TY  - JOUR
AU  - Jelovac, Marina
AU  - Kotur, Nikola
AU  - Ristivojević, Bojan
AU  - Pavlović, Djordje
AU  - Spasovski, Vesna
AU  - Damjanov, Nemanja
AU  - Pavlović, Sonja
AU  - Zukić, Branka
PY  - 2023
UR  - https://www.mdpi.com/1422-0067/24/10/8538
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1859
AB  - Systemic sclerosis (SSc) is a rare connective tissue disorder with highest morbidity and mortality among rheumatologic diseases. Disease progression is highly heterogeneous between patients, implying a strong need for individualization of therapy. Four pharmacogenetic variants, namely TPMT rs1800460, TPMT rs1142345, MTHFR rs1801133 and SLCO1B1 rs4149056 were tested for association with severe disease outcomes in 102 patients with SSc from Serbia treated either with immunosuppressants azathioprine (AZA) and methotrexate (MTX) or with other types of medications. Genotyping was performed using PCR-RFLP and direct Sanger sequencing. R software was used for statistical analysis and development of polygenic risk score (PRS) model. Association was found between MTHFR rs1801133 and higher risk for elevated systolic pressure in all patients except those prescribed with MTX, and higher risk for kidney insufficiency in patients prescribed with other types of drugs. In patients treated with MTX, variant SLCO1B1 rs4149056 was protective against kidney insufficiency. For patients receiving MTX a trend was shown for having a higher PRS rank and elevated systolic pressure. Our results open a door wide for more extensive research on pharmacogenomics markers in patients with SSc. Altogether, pharmacogenomics markers could predict the outcome of patients with SSc and help in prevention of adverse drug reactions.
T2  - International Journal of Molecular Sciences
T2  - International Journal of Molecular Sciences
T1  - Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?
IS  - 10
SP  - 8538
VL  - 24
DO  - 10.3390/ijms24108538
ER  - 

@article{
author = "Jelovac, Marina and Kotur, Nikola and Ristivojević, Bojan and Pavlović, Djordje and Spasovski, Vesna and Damjanov, Nemanja and Pavlović, Sonja and Zukić, Branka",
year = "2023",
abstract = "Systemic sclerosis (SSc) is a rare connective tissue disorder with highest morbidity and mortality among rheumatologic diseases. Disease progression is highly heterogeneous between patients, implying a strong need for individualization of therapy. Four pharmacogenetic variants, namely TPMT rs1800460, TPMT rs1142345, MTHFR rs1801133 and SLCO1B1 rs4149056 were tested for association with severe disease outcomes in 102 patients with SSc from Serbia treated either with immunosuppressants azathioprine (AZA) and methotrexate (MTX) or with other types of medications. Genotyping was performed using PCR-RFLP and direct Sanger sequencing. R software was used for statistical analysis and development of polygenic risk score (PRS) model. Association was found between MTHFR rs1801133 and higher risk for elevated systolic pressure in all patients except those prescribed with MTX, and higher risk for kidney insufficiency in patients prescribed with other types of drugs. In patients treated with MTX, variant SLCO1B1 rs4149056 was protective against kidney insufficiency. For patients receiving MTX a trend was shown for having a higher PRS rank and elevated systolic pressure. Our results open a door wide for more extensive research on pharmacogenomics markers in patients with SSc. Altogether, pharmacogenomics markers could predict the outcome of patients with SSc and help in prevention of adverse drug reactions.",
journal = "International Journal of Molecular Sciences, International Journal of Molecular Sciences",
title = "Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?",
number = "10",
pages = "8538",
volume = "24",
doi = "10.3390/ijms24108538"
}

Jelovac, M., Kotur, N., Ristivojević, B., Pavlović, D., Spasovski, V., Damjanov, N., Pavlović, S.,& Zukić, B.. (2023). Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?. in International Journal of Molecular Sciences, 24(10), 8538.
https://doi.org/10.3390/ijms24108538

Jelovac M, Kotur N, Ristivojević B, Pavlović D, Spasovski V, Damjanov N, Pavlović S, Zukić B. Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?. in International Journal of Molecular Sciences. 2023;24(10):8538.
doi:10.3390/ijms24108538 .

Jelovac, Marina, Kotur, Nikola, Ristivojević, Bojan, Pavlović, Djordje, Spasovski, Vesna, Damjanov, Nemanja, Pavlović, Sonja, Zukić, Branka, "Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?" in International Journal of Molecular Sciences, 24, no. 10 (2023):8538,
https://doi.org/10.3390/ijms24108538 . .

TY  - JOUR
AU  - Jovanović, Aleksa
AU  - Tošić, Nataša
AU  - Marjanović, Irena
AU  - Komazec, Jovana
AU  - Zukić, Branka
AU  - Nikitović, Marina
AU  - Ilić, Rosanda
AU  - Grujičić, Danica
AU  - Janić, Dragana
AU  - Pavlović, Sonja
PY  - 2023
UR  - https://www.mdpi.com/1422-0067/24/24/17387
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2279
AB  - Central nervous system (CNS) tumors comprise around 20% of childhood malignancies. Germline variants in cancer predisposition genes (CPGs) are found in approximately 10% of pediatric patients with CNS tumors. This study aimed to characterize variants in CPGs in pediatric patients with CNS tumors and correlate these findings with clinically relevant data. Genomic DNA was isolated from the peripheral blood of 51 pediatric patients and further analyzed by the next-generation sequencing approach. Bioinformatic analysis was done using an “in-house” gene list panel, which included 144 genes related to pediatric brain tumors, and the gene list panel Neoplasm (HP:0002664). Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2, ELP1, MLH1, MSH2, NF1, NF2 and TP53. This study represents the first comprehensive evaluation of germline variants in pediatric patients with CNS tumors in the Western Balkans region. Our results indicate the necessity of genomic research to reveal the genetic basis of pediatric CNS tumors, as well as to define targets for the application and development of innovative therapeutics that form the basis of the upcoming era of personalized medicine.
T2  - International Journal of Molecular Sciences
T1  - Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors
IS  - 24
SP  - 17387
VL  - 24
DO  - 10.3390/ijms242417387
ER  - 

@article{
author = "Jovanović, Aleksa and Tošić, Nataša and Marjanović, Irena and Komazec, Jovana and Zukić, Branka and Nikitović, Marina and Ilić, Rosanda and Grujičić, Danica and Janić, Dragana and Pavlović, Sonja",
year = "2023",
abstract = "Central nervous system (CNS) tumors comprise around 20% of childhood malignancies. Germline variants in cancer predisposition genes (CPGs) are found in approximately 10% of pediatric patients with CNS tumors. This study aimed to characterize variants in CPGs in pediatric patients with CNS tumors and correlate these findings with clinically relevant data. Genomic DNA was isolated from the peripheral blood of 51 pediatric patients and further analyzed by the next-generation sequencing approach. Bioinformatic analysis was done using an “in-house” gene list panel, which included 144 genes related to pediatric brain tumors, and the gene list panel Neoplasm (HP:0002664). Our study found that 27% of pediatric patients with CNS tumors have a germline variant in some of the known CPGs, like ALK, APC, CHEK2, ELP1, MLH1, MSH2, NF1, NF2 and TP53. This study represents the first comprehensive evaluation of germline variants in pediatric patients with CNS tumors in the Western Balkans region. Our results indicate the necessity of genomic research to reveal the genetic basis of pediatric CNS tumors, as well as to define targets for the application and development of innovative therapeutics that form the basis of the upcoming era of personalized medicine.",
journal = "International Journal of Molecular Sciences",
title = "Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors",
number = "24",
pages = "17387",
volume = "24",
doi = "10.3390/ijms242417387"
}

Jovanović, A., Tošić, N., Marjanović, I., Komazec, J., Zukić, B., Nikitović, M., Ilić, R., Grujičić, D., Janić, D.,& Pavlović, S.. (2023). Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors. in International Journal of Molecular Sciences, 24(24), 17387.
https://doi.org/10.3390/ijms242417387

Jovanović A, Tošić N, Marjanović I, Komazec J, Zukić B, Nikitović M, Ilić R, Grujičić D, Janić D, Pavlović S. Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors. in International Journal of Molecular Sciences. 2023;24(24):17387.
doi:10.3390/ijms242417387 .

Jovanović, Aleksa, Tošić, Nataša, Marjanović, Irena, Komazec, Jovana, Zukić, Branka, Nikitović, Marina, Ilić, Rosanda, Grujičić, Danica, Janić, Dragana, Pavlović, Sonja, "Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors" in International Journal of Molecular Sciences, 24, no. 24 (2023):17387,
https://doi.org/10.3390/ijms242417387 . .

TY  - CONF
AU  - Zečević, Marko
AU  - Kotur, Nikola
AU  - Ristivojević, Bojan
AU  - Gašić, Vladimir
AU  - Zukić, Branka
AU  - Pavlović, Sonja
AU  - Stanković, Biljana
PY  - 2023
UR  - https://belbi.bg.ac.rs/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2029
AB  - Host genetics, an important contributor to the COVID-19 clinical susceptibility and severity,
currently is the focus of multiple genome-wide association studies (GWAS) in populations
affected by the pandemic. This is the first study from Serbia that performed a GWAS of
COVID-19 outcomes to identify genetic risk markers of disease severity. A group of 128
hospitalized COVID-19 patients from the Serbian population was enrolled in the study.
We conducted a GWAS comparing (1) patients with pneumonia (n = 80) against patients
without pneumonia (n = 48), and (2) severe (n = 34) against mild disease (n = 48) patients,
using a genotyping array followed by imputation of missing genotypes. We have detected
a significant signal associated with COVID-19 related pneumonia at locus 13q21.33, with
a peak residing upstream of the gene KLHL1 (p = 1.91 × 10−8). Our study also replicated
a previously reported COVID-19 risk locus at 3p21.31, identifying lead variants in SACM1L
and LZTFL1 genes suggestively associated with pneumonia (p = 7.54 × 10−6) and
severe COVID-19 (p = 6.88 × 10−7), respectively. Suggestive association with COVID-19
pneumonia has also been observed at chromosomes 5p15.33 (IRX, NDUFS6,MRPL36, p
= 2.81 × 10−6), 5q11.2 (ESM1, p = 6.59 × 10−6), and 9p23 (TYRP1,LURAP1L, p = 8.69 ×
10−6). The genes located in or near the risk loci are expressed in neural or lung tissues, and
have been previously associated with respiratory diseases such as asthma and COVID-19
or reported as differentially expressed in COVID-19 gene expression profiling studies.
Our results revealed novel risk loci for pneumonia and severe COVID-19 disease which
could contribute to a better understanding of the COVID-19 host genetics in different
populations.
PB  - Belgrade : Institute of molecular genetics and genetic engineering
C3  - 4th Belgrade Bioinformatics Conference
T1  - Genome-wide association analysis for severe COVID-19 in Serbian population
EP  - 84
SP  - 84
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2029
ER  - 

@conference{
author = "Zečević, Marko and Kotur, Nikola and Ristivojević, Bojan and Gašić, Vladimir and Zukić, Branka and Pavlović, Sonja and Stanković, Biljana",
year = "2023",
abstract = "Host genetics, an important contributor to the COVID-19 clinical susceptibility and severity,
currently is the focus of multiple genome-wide association studies (GWAS) in populations
affected by the pandemic. This is the first study from Serbia that performed a GWAS of
COVID-19 outcomes to identify genetic risk markers of disease severity. A group of 128
hospitalized COVID-19 patients from the Serbian population was enrolled in the study.
We conducted a GWAS comparing (1) patients with pneumonia (n = 80) against patients
without pneumonia (n = 48), and (2) severe (n = 34) against mild disease (n = 48) patients,
using a genotyping array followed by imputation of missing genotypes. We have detected
a significant signal associated with COVID-19 related pneumonia at locus 13q21.33, with
a peak residing upstream of the gene KLHL1 (p = 1.91 × 10−8). Our study also replicated
a previously reported COVID-19 risk locus at 3p21.31, identifying lead variants in SACM1L
and LZTFL1 genes suggestively associated with pneumonia (p = 7.54 × 10−6) and
severe COVID-19 (p = 6.88 × 10−7), respectively. Suggestive association with COVID-19
pneumonia has also been observed at chromosomes 5p15.33 (IRX, NDUFS6,MRPL36, p
= 2.81 × 10−6), 5q11.2 (ESM1, p = 6.59 × 10−6), and 9p23 (TYRP1,LURAP1L, p = 8.69 ×
10−6). The genes located in or near the risk loci are expressed in neural or lung tissues, and
have been previously associated with respiratory diseases such as asthma and COVID-19
or reported as differentially expressed in COVID-19 gene expression profiling studies.
Our results revealed novel risk loci for pneumonia and severe COVID-19 disease which
could contribute to a better understanding of the COVID-19 host genetics in different
populations.",
publisher = "Belgrade : Institute of molecular genetics and genetic engineering",
journal = "4th Belgrade Bioinformatics Conference",
title = "Genome-wide association analysis for severe COVID-19 in Serbian population",
pages = "84-84",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2029"
}

Zečević, M., Kotur, N., Ristivojević, B., Gašić, V., Zukić, B., Pavlović, S.,& Stanković, B.. (2023). Genome-wide association analysis for severe COVID-19 in Serbian population. in 4th Belgrade Bioinformatics Conference
Belgrade : Institute of molecular genetics and genetic engineering., 4, 84-84.
https://hdl.handle.net/21.15107/rcub_imagine_2029

Zečević M, Kotur N, Ristivojević B, Gašić V, Zukić B, Pavlović S, Stanković B. Genome-wide association analysis for severe COVID-19 in Serbian population. in 4th Belgrade Bioinformatics Conference. 2023;4:84-84.
https://hdl.handle.net/21.15107/rcub_imagine_2029 .

Zečević, Marko, Kotur, Nikola, Ristivojević, Bojan, Gašić, Vladimir, Zukić, Branka, Pavlović, Sonja, Stanković, Biljana, "Genome-wide association analysis for severe COVID-19 in Serbian population" in 4th Belgrade Bioinformatics Conference, 4 (2023):84-84,
https://hdl.handle.net/21.15107/rcub_imagine_2029 .

TY  - CONF
AU  - Ristivojević, Bojan
AU  - Kotur, Nikola
AU  - Tošić, Nataša
AU  - Stanković, Biljana
AU  - Gašić, Vladimir
AU  - Pavlović, Đorđe
AU  - Jelovac, Marina
AU  - Milošević, Goran
AU  - Pavlović, Sonja
AU  - Zukić, Branka
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2128
AB  - Introduction: The NUDT15 is new pharmacogene of importance for 6-mercaptopurine therapy, given to
children with acute lymphoblastic leukemia (ALL). The association ofside effectsin children with variants
in NUDT15 are well established in Asian populations, yet the relevance ofthis pharmacogene in European
populationsremainslargely unexplored. The aim of thisstudy wasto identify pharmacogenetic variants
in coding and neighbouring regions of NUDT15 gene and analyse if the expression levels of NUDT15 can
predict the occurence of side effects of 6-mercaptopurine during the maintenance therapy in children
with ALL of Serbian origin.
Methods: The genotyping of coding and neighbouring regions of NUDT15 gene was performed using
PCR and Sangersequencing based technology in 48 children with ALL. NUDT15 expression was analyzed
in mononuclear cells of 24 ALL patients at diagnosis and 6 healthy controls by qRT-PCR, and association
with surogate markers was assessed using adequate statistical methodology.
Results: The genotypig revealed the presence of 5 variantsin NUDT15 (NUDT15(NM_018283.4):c.36A>C,
NUDT15(NM_018283.4):c.158+117C>T,NUDT15(NM_018283.4):c.158+174G>A,NUDT15(NM_018283.4):c.159-
91G>A,NUDT15(NM_018283.4):c.*7G>A), none of them with effects on the expression or the function of
NUDT15 protein. There was no statistically significant association between the expression of NUDT15 at
diagnosis and the surogate markers of side effects (number of episodes of leukopenia (p=0.821), number of weeks without therapy (p=0.507), number of weeks with lower dose (p=0.434), average doses
(p=0.374)) of 6-mercaptopurine during the maintenance therapy.
Conclusion: Presently, NUDT15 cannot be used as a pharmacogene in predicting the toxicity of 6-mercaptopurine terapy in children with ALL in Serbia.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - NUDT15 as potential marker for pharmacogenetic-guided 6-mercaptopurine therapy in children with acute lymphoblastic leukemia in Serbia
EP  - 81
SP  - 81
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2128
ER  - 

@conference{
author = "Ristivojević, Bojan and Kotur, Nikola and Tošić, Nataša and Stanković, Biljana and Gašić, Vladimir and Pavlović, Đorđe and Jelovac, Marina and Milošević, Goran and Pavlović, Sonja and Zukić, Branka",
year = "2023",
abstract = "Introduction: The NUDT15 is new pharmacogene of importance for 6-mercaptopurine therapy, given to
children with acute lymphoblastic leukemia (ALL). The association ofside effectsin children with variants
in NUDT15 are well established in Asian populations, yet the relevance ofthis pharmacogene in European
populationsremainslargely unexplored. The aim of thisstudy wasto identify pharmacogenetic variants
in coding and neighbouring regions of NUDT15 gene and analyse if the expression levels of NUDT15 can
predict the occurence of side effects of 6-mercaptopurine during the maintenance therapy in children
with ALL of Serbian origin.
Methods: The genotyping of coding and neighbouring regions of NUDT15 gene was performed using
PCR and Sangersequencing based technology in 48 children with ALL. NUDT15 expression was analyzed
in mononuclear cells of 24 ALL patients at diagnosis and 6 healthy controls by qRT-PCR, and association
with surogate markers was assessed using adequate statistical methodology.
Results: The genotypig revealed the presence of 5 variantsin NUDT15 (NUDT15(NM_018283.4):c.36A>C,
NUDT15(NM_018283.4):c.158+117C>T,NUDT15(NM_018283.4):c.158+174G>A,NUDT15(NM_018283.4):c.159-
91G>A,NUDT15(NM_018283.4):c.*7G>A), none of them with effects on the expression or the function of
NUDT15 protein. There was no statistically significant association between the expression of NUDT15 at
diagnosis and the surogate markers of side effects (number of episodes of leukopenia (p=0.821), number of weeks without therapy (p=0.507), number of weeks with lower dose (p=0.434), average doses
(p=0.374)) of 6-mercaptopurine during the maintenance therapy.
Conclusion: Presently, NUDT15 cannot be used as a pharmacogene in predicting the toxicity of 6-mercaptopurine terapy in children with ALL in Serbia.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "NUDT15 as potential marker for pharmacogenetic-guided 6-mercaptopurine therapy in children with acute lymphoblastic leukemia in Serbia",
pages = "81-81",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2128"
}

Ristivojević, B., Kotur, N., Tošić, N., Stanković, B., Gašić, V., Pavlović, Đ., Jelovac, M., Milošević, G., Pavlović, S.,& Zukić, B.. (2023). NUDT15 as potential marker for pharmacogenetic-guided 6-mercaptopurine therapy in children with acute lymphoblastic leukemia in Serbia. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 81-81.
https://hdl.handle.net/21.15107/rcub_imagine_2128

Ristivojević B, Kotur N, Tošić N, Stanković B, Gašić V, Pavlović Đ, Jelovac M, Milošević G, Pavlović S, Zukić B. NUDT15 as potential marker for pharmacogenetic-guided 6-mercaptopurine therapy in children with acute lymphoblastic leukemia in Serbia. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:81-81.
https://hdl.handle.net/21.15107/rcub_imagine_2128 .

Ristivojević, Bojan, Kotur, Nikola, Tošić, Nataša, Stanković, Biljana, Gašić, Vladimir, Pavlović, Đorđe, Jelovac, Marina, Milošević, Goran, Pavlović, Sonja, Zukić, Branka, "NUDT15 as potential marker for pharmacogenetic-guided 6-mercaptopurine therapy in children with acute lymphoblastic leukemia in Serbia" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):81-81,
https://hdl.handle.net/21.15107/rcub_imagine_2128 .

TY  - CONF
AU  - Đorđe, Pavlović
AU  - Tošić, Nataša
AU  - Zukić, Branka
AU  - Pravić, Zlatko
AU  - Suvajdžić Vuković, Nada
AU  - Pavlović, Sonja
AU  - Gašić, Vladimir
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2127
AB  - Introduction: Acute myeloid leukemia (AML) is a heterogeneous malignant disease, that accounts for
80% of all acute leukemias in adults. Imprecise risk stratification and lack of personalized treatment creates a constant need to find new prognostic markers and targets for innovative therapeutics. Recently,
thissearch has pointed towards non-coding RNAs(ncRNA). Numerousstudies have shown dysregulation
of lncRNA GAS5 in cancers, but it was poorly investigated in AML. Since GAS5 actslike a molecularsponge
for miR-222, co-expression profiles of these non-coding RNAs could be novel prognostic markersin AML.
Methods: GAS5 expression levels were analysed in 94 AML patients and 14 healthy controls using RealTime PCR and miR-222 expression levels were analysed in a subgroup of 39 patients with normal karyotype (AML-NK). ROC curve analyses were used to find a cut-off value between GAS5high and GAS5low,
while the median value was used for distinguishing between miR-222high and miR-222low.
Results: We showed that GAS5 expression in AML patients was lower compared to healthy controls.
Lower GAS5 expression on diagnosis was related to an adverse prognosis. The disease-free survival and
the overallsurvival were lower in the GAS5low group butsurvival analysisfailed to confirm thisfinding. In
the AML-NK group patients had higher expression of miR-222 compared to healthy controls. A synergistic
effect of GAS5low/miR-222high status on disease prognosis was not established.
Conclusion:Our findingsindicate the potential prognostic significance of GAS5 expression and the need
for further investigation of these two non-coding RNAs and their potential roles in leukemogenesis.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Expression profiles of long non-coding RNA gas5 and microrna-222 in younger AML patients
EP  - 72
SP  - 72
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2127
ER  - 

@conference{
author = "Đorđe, Pavlović and Tošić, Nataša and Zukić, Branka and Pravić, Zlatko and Suvajdžić Vuković, Nada and Pavlović, Sonja and Gašić, Vladimir",
year = "2023",
abstract = "Introduction: Acute myeloid leukemia (AML) is a heterogeneous malignant disease, that accounts for
80% of all acute leukemias in adults. Imprecise risk stratification and lack of personalized treatment creates a constant need to find new prognostic markers and targets for innovative therapeutics. Recently,
thissearch has pointed towards non-coding RNAs(ncRNA). Numerousstudies have shown dysregulation
of lncRNA GAS5 in cancers, but it was poorly investigated in AML. Since GAS5 actslike a molecularsponge
for miR-222, co-expression profiles of these non-coding RNAs could be novel prognostic markersin AML.
Methods: GAS5 expression levels were analysed in 94 AML patients and 14 healthy controls using RealTime PCR and miR-222 expression levels were analysed in a subgroup of 39 patients with normal karyotype (AML-NK). ROC curve analyses were used to find a cut-off value between GAS5high and GAS5low,
while the median value was used for distinguishing between miR-222high and miR-222low.
Results: We showed that GAS5 expression in AML patients was lower compared to healthy controls.
Lower GAS5 expression on diagnosis was related to an adverse prognosis. The disease-free survival and
the overallsurvival were lower in the GAS5low group butsurvival analysisfailed to confirm thisfinding. In
the AML-NK group patients had higher expression of miR-222 compared to healthy controls. A synergistic
effect of GAS5low/miR-222high status on disease prognosis was not established.
Conclusion:Our findingsindicate the potential prognostic significance of GAS5 expression and the need
for further investigation of these two non-coding RNAs and their potential roles in leukemogenesis.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Expression profiles of long non-coding RNA gas5 and microrna-222 in younger AML patients",
pages = "72-72",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2127"
}

Đorđe, P., Tošić, N., Zukić, B., Pravić, Z., Suvajdžić Vuković, N., Pavlović, S.,& Gašić, V.. (2023). Expression profiles of long non-coding RNA gas5 and microrna-222 in younger AML patients. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 72-72.
https://hdl.handle.net/21.15107/rcub_imagine_2127

Đorđe P, Tošić N, Zukić B, Pravić Z, Suvajdžić Vuković N, Pavlović S, Gašić V. Expression profiles of long non-coding RNA gas5 and microrna-222 in younger AML patients. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:72-72.
https://hdl.handle.net/21.15107/rcub_imagine_2127 .

Đorđe, Pavlović, Tošić, Nataša, Zukić, Branka, Pravić, Zlatko, Suvajdžić Vuković, Nada, Pavlović, Sonja, Gašić, Vladimir, "Expression profiles of long non-coding RNA gas5 and microrna-222 in younger AML patients" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):72-72,
https://hdl.handle.net/21.15107/rcub_imagine_2127 .

TY  - CONF
AU  - Gašić, Vladimir
AU  - Kotur, Nikola
AU  - Stanković, Biljana
AU  - Pavlović, Đorđe
AU  - Jelovac, Marina
AU  - Perić, Jelena
AU  - Ristivojević, Bojan
AU  - Pavlović, Sonja
AU  - Zukić, Branka
PY  - 2023
UR  - https://belbi.bg.ac.rs/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2040
AB  - Acute lymphoblastic leukemia (ALL) is the most common childhood neoplasm. Side
effects of therapy occur in 75% of patients and 1-3% of patients have a lethal outcome due
to treatment. More efficient treatment of pediatric ALL has been developed by avoiding
drug adverse effects included in the treatment protocols. Therefore, implementation of
pharmacogenomics is paramount in pediatric ALL treatment. Next generation sequencing
(NGS) contributed to discovery of novel genetic markers, potential candidates for targeted
therapy and predictors of efficacy and toxicity of drugs.
We aimed to discover novel potential pharmacogenomic markers in pediatric ALL.
DNA samples from bone marrow of 17 pediatric ALL patients were analyzed using
the platform TruSeq Amplicon – Cancer Panel (Ilumina) for somatic mutations in 48
oncogenes. DNA samples from blood of 100 individuals, using the platform TruSightOne
(Ilumina), were analyzed for germinative mutations. An in-house virtual panel for GC
response markers was designed. Predicting the effects of novel variants was performed
using the SIFT, PolyPhen-2 and PROVEAN software tools. For protein structure stability
and modeling we used STRUM method and i-TASSER server.
In the NGS study of somatic mutations in pediatric ALL, 9 novel variants have been
identified. Bioinformatic analysis has shown that STK11 c.1023G>T and ERBB2 c.2341C>T
possess potential as pharmacogenomic markers, therefore, they are candidates for
molecular targeted therapy. In the exome sequencing study, according to the prediction
algorithms, 3 new potential markers in pharmacogenes related to GC response have been
identified, ABCB1 c.947A>G, NCOA3 rs138733364 and TBX21 rs14059812.
Using NGS analysis and prediction algorithms, we have detected 2 novel somatic mutations,
candidates for targeted molecular therapy, as well as 3 novel germinative variants,
potential pharmacogenomic markers of GC response in pediatric ALL. Pharmacogenomic
profiling of each pediatric ALL patient is indispensable for new therapy approaches and it
could lead to better outcomes.
PB  - Belgrade : Institute of molecular genetics and genetic engineering
C3  - 4th Belgrade Bioinformatics Conference
T1  - In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment
EP  - 95
SP  - 95
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2040
ER  - 

@conference{
author = "Gašić, Vladimir and Kotur, Nikola and Stanković, Biljana and Pavlović, Đorđe and Jelovac, Marina and Perić, Jelena and Ristivojević, Bojan and Pavlović, Sonja and Zukić, Branka",
year = "2023",
abstract = "Acute lymphoblastic leukemia (ALL) is the most common childhood neoplasm. Side
effects of therapy occur in 75% of patients and 1-3% of patients have a lethal outcome due
to treatment. More efficient treatment of pediatric ALL has been developed by avoiding
drug adverse effects included in the treatment protocols. Therefore, implementation of
pharmacogenomics is paramount in pediatric ALL treatment. Next generation sequencing
(NGS) contributed to discovery of novel genetic markers, potential candidates for targeted
therapy and predictors of efficacy and toxicity of drugs.
We aimed to discover novel potential pharmacogenomic markers in pediatric ALL.
DNA samples from bone marrow of 17 pediatric ALL patients were analyzed using
the platform TruSeq Amplicon – Cancer Panel (Ilumina) for somatic mutations in 48
oncogenes. DNA samples from blood of 100 individuals, using the platform TruSightOne
(Ilumina), were analyzed for germinative mutations. An in-house virtual panel for GC
response markers was designed. Predicting the effects of novel variants was performed
using the SIFT, PolyPhen-2 and PROVEAN software tools. For protein structure stability
and modeling we used STRUM method and i-TASSER server.
In the NGS study of somatic mutations in pediatric ALL, 9 novel variants have been
identified. Bioinformatic analysis has shown that STK11 c.1023G>T and ERBB2 c.2341C>T
possess potential as pharmacogenomic markers, therefore, they are candidates for
molecular targeted therapy. In the exome sequencing study, according to the prediction
algorithms, 3 new potential markers in pharmacogenes related to GC response have been
identified, ABCB1 c.947A>G, NCOA3 rs138733364 and TBX21 rs14059812.
Using NGS analysis and prediction algorithms, we have detected 2 novel somatic mutations,
candidates for targeted molecular therapy, as well as 3 novel germinative variants,
potential pharmacogenomic markers of GC response in pediatric ALL. Pharmacogenomic
profiling of each pediatric ALL patient is indispensable for new therapy approaches and it
could lead to better outcomes.",
publisher = "Belgrade : Institute of molecular genetics and genetic engineering",
journal = "4th Belgrade Bioinformatics Conference",
title = "In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment",
pages = "95-95",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2040"
}

Gašić, V., Kotur, N., Stanković, B., Pavlović, Đ., Jelovac, M., Perić, J., Ristivojević, B., Pavlović, S.,& Zukić, B.. (2023). In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment. in 4th Belgrade Bioinformatics Conference
Belgrade : Institute of molecular genetics and genetic engineering., 4, 95-95.
https://hdl.handle.net/21.15107/rcub_imagine_2040

Gašić V, Kotur N, Stanković B, Pavlović Đ, Jelovac M, Perić J, Ristivojević B, Pavlović S, Zukić B. In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment. in 4th Belgrade Bioinformatics Conference. 2023;4:95-95.
https://hdl.handle.net/21.15107/rcub_imagine_2040 .

Gašić, Vladimir, Kotur, Nikola, Stanković, Biljana, Pavlović, Đorđe, Jelovac, Marina, Perić, Jelena, Ristivojević, Bojan, Pavlović, Sonja, Zukić, Branka, "In Silico analysis and prediction of novel pharmacogenomic markers of pediatric ALL treatment" in 4th Belgrade Bioinformatics Conference, 4 (2023):95-95,
https://hdl.handle.net/21.15107/rcub_imagine_2040 .

TY  - CONF
AU  - Kotur, Nikola
AU  - Skakić, Anita
AU  - Klaassen, Kristel
AU  - Gašić, Vladimir
AU  - Jelovac, Marina
AU  - Ristivojević, Bojan
AU  - Zukić, Branka
AU  - Pavlović, Sonja
AU  - Stanković, Biljana
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1904
AB  - COVID-19 pandemic has proved to be an unrelenting health threat for more than a year now. The
emerging amount of data indicates that vitamin D could be important for clinical presentation of
COVID-19. Here, we investigated association of genetic variants related to the altered level and
bioavailability of vitamin D with clinical severity of COVID-19. We analyzed variants in genes
significant for the status of vitamin D (DHCR7/NADSYN1 rs12785878, GC rs2282679, and CYP2R1
rs10741657), and vitamin D effect (VDR rs2228570) in 120 Serbian adult and pediatric COVID-19
patients using allelic discrimination. Furthermore, we carried out comparative population genetic
analysis among European and other worldwide populations to investigate variation in allelic
frequencies of selected variants. The results showed that DHCR7/NADSYN rs12785878 and CYP2R1
rs10741657 variants were associated with severe COVID-19 in adults (p = 0.03, p = 0.017,
respectively); carriers of DHCR7/NADSYN TG+GG and CYP2R1 GG genotypes had 0.21 and 5.9 the
odds for developing severe disease, OR 0.21 (0.05–0.9) and OR 5.9 (1.4–25.2), respectively. There
were no associations between selected genetic variants and disease severity in pediatric patients.
Comparative population genetic analysis revealed that Serbian population had the lowest frequency of
CYP2R1 rs10741657 G allele compared to other non-Finish Europeans (0.58 compared to 0.69 and
0.66 in Spanish and Italian population, respectively), suggesting that other populations should also
investigate the relationship of CYP2R1 variant and the COVID-19 disease course. The results of the
study indicated that vitamin D related genetic variants were implicated in severe COVID-19 in adults.
This could direct prevention strategies based on population specific nutrigenetic profiles.
PB  - Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo
C3  - Genetics & Applications
T1  - Covid-19 disease severity associated with vitamin d related genetic Variants
IS  - 2 (Special edition
SP  - 144
VL  - 7
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1904
ER  - 

@conference{
author = "Kotur, Nikola and Skakić, Anita and Klaassen, Kristel and Gašić, Vladimir and Jelovac, Marina and Ristivojević, Bojan and Zukić, Branka and Pavlović, Sonja and Stanković, Biljana",
year = "2023",
abstract = "COVID-19 pandemic has proved to be an unrelenting health threat for more than a year now. The
emerging amount of data indicates that vitamin D could be important for clinical presentation of
COVID-19. Here, we investigated association of genetic variants related to the altered level and
bioavailability of vitamin D with clinical severity of COVID-19. We analyzed variants in genes
significant for the status of vitamin D (DHCR7/NADSYN1 rs12785878, GC rs2282679, and CYP2R1
rs10741657), and vitamin D effect (VDR rs2228570) in 120 Serbian adult and pediatric COVID-19
patients using allelic discrimination. Furthermore, we carried out comparative population genetic
analysis among European and other worldwide populations to investigate variation in allelic
frequencies of selected variants. The results showed that DHCR7/NADSYN rs12785878 and CYP2R1
rs10741657 variants were associated with severe COVID-19 in adults (p = 0.03, p = 0.017,
respectively); carriers of DHCR7/NADSYN TG+GG and CYP2R1 GG genotypes had 0.21 and 5.9 the
odds for developing severe disease, OR 0.21 (0.05–0.9) and OR 5.9 (1.4–25.2), respectively. There
were no associations between selected genetic variants and disease severity in pediatric patients.
Comparative population genetic analysis revealed that Serbian population had the lowest frequency of
CYP2R1 rs10741657 G allele compared to other non-Finish Europeans (0.58 compared to 0.69 and
0.66 in Spanish and Italian population, respectively), suggesting that other populations should also
investigate the relationship of CYP2R1 variant and the COVID-19 disease course. The results of the
study indicated that vitamin D related genetic variants were implicated in severe COVID-19 in adults.
This could direct prevention strategies based on population specific nutrigenetic profiles.",
publisher = "Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo",
journal = "Genetics & Applications",
title = "Covid-19 disease severity associated with vitamin d related genetic Variants",
number = "2 (Special edition",
pages = "144",
volume = "7",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1904"
}

Kotur, N., Skakić, A., Klaassen, K., Gašić, V., Jelovac, M., Ristivojević, B., Zukić, B., Pavlović, S.,& Stanković, B.. (2023). Covid-19 disease severity associated with vitamin d related genetic Variants. in Genetics & Applications
Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo., 7(2 (Special edition), 144.
https://hdl.handle.net/21.15107/rcub_imagine_1904

Kotur N, Skakić A, Klaassen K, Gašić V, Jelovac M, Ristivojević B, Zukić B, Pavlović S, Stanković B. Covid-19 disease severity associated with vitamin d related genetic Variants. in Genetics & Applications. 2023;7(2 (Special edition):144.
https://hdl.handle.net/21.15107/rcub_imagine_1904 .

Kotur, Nikola, Skakić, Anita, Klaassen, Kristel, Gašić, Vladimir, Jelovac, Marina, Ristivojević, Bojan, Zukić, Branka, Pavlović, Sonja, Stanković, Biljana, "Covid-19 disease severity associated with vitamin d related genetic Variants" in Genetics & Applications, 7, no. 2 (Special edition (2023):144,
https://hdl.handle.net/21.15107/rcub_imagine_1904 .

TY  - CONF
AU  - Drakulić, Danijela
AU  - Rakonjac, Marijana
AU  - Cuturilo, Goran
AU  - Kovačević-Grujičić, Nataša
AU  - Kušić-Tišma, Jelena
AU  - Morić, Ivana
AU  - Zukić, Branka
AU  - Stevanović, Milena
PY  - 2023
UR  - https://belbi.bg.ac.rs/
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2036
AB  - 22q11.2 deletion syndrome (22q11.2DS is caused by 22q11.2 microdeletion, one of
the strongest known risk factors for development of neurodevelopmental disorders.
About 70% patients with 22q11.2DS have speech and language impairments. In the
literature, there is no data about articulatory characteristics of phonemes of children
with 22q11.2DS, monolingual native speakers of South Slavic languages. Here we, by
applying Global Articulation Test, analyzed articulatory characteristics of phonemes of
children with 22q11.2DS, monolingual native speakers of the Serbian language (group
E1), children with a phenotype resembling 22q11.2DS but without the microdeletion
(group E2), children with non-syndromic congenital heart malformations (since children
with these malformations may exhibit a speech and language impairments) (group
E3) and their peers with typical speech-sound development (group C). Results of PCA
indicated that the groups can be distinguished based on the pronunciation of phonemes,
and that the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩”
contributes the most to the variability between the groups. Results of AHP revealed that
the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩” was
rated the worst in the group E1. In conclusion, obtained results indicate that the presence
of 22q11.2 microdeletion influences articulation skills of carriers.
PB  - Belgrade : Institute of molecular genetics and genetic engineering
C3  - 4th Belgrade Bioinformatics Conference
T1  - Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome
EP  - 91
SP  - 91
VL  - 4
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2036
ER  - 

@conference{
author = "Drakulić, Danijela and Rakonjac, Marijana and Cuturilo, Goran and Kovačević-Grujičić, Nataša and Kušić-Tišma, Jelena and Morić, Ivana and Zukić, Branka and Stevanović, Milena",
year = "2023",
abstract = "22q11.2 deletion syndrome (22q11.2DS is caused by 22q11.2 microdeletion, one of
the strongest known risk factors for development of neurodevelopmental disorders.
About 70% patients with 22q11.2DS have speech and language impairments. In the
literature, there is no data about articulatory characteristics of phonemes of children
with 22q11.2DS, monolingual native speakers of South Slavic languages. Here we, by
applying Global Articulation Test, analyzed articulatory characteristics of phonemes of
children with 22q11.2DS, monolingual native speakers of the Serbian language (group
E1), children with a phenotype resembling 22q11.2DS but without the microdeletion
(group E2), children with non-syndromic congenital heart malformations (since children
with these malformations may exhibit a speech and language impairments) (group
E3) and their peers with typical speech-sound development (group C). Results of PCA
indicated that the groups can be distinguished based on the pronunciation of phonemes,
and that the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩”
contributes the most to the variability between the groups. Results of AHP revealed that
the pronunciation of the phonemes “Č ⟨tʃ⟩”, “Dž ⟨ʤ⟩”, “Š ⟨∫⟩”, “Ž ⟨ʒ⟩”, “R”, and “Lj ⟨ʎ⟩” was
rated the worst in the group E1. In conclusion, obtained results indicate that the presence
of 22q11.2 microdeletion influences articulation skills of carriers.",
publisher = "Belgrade : Institute of molecular genetics and genetic engineering",
journal = "4th Belgrade Bioinformatics Conference",
title = "Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome",
pages = "91-91",
volume = "4",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2036"
}

Drakulić, D., Rakonjac, M., Cuturilo, G., Kovačević-Grujičić, N., Kušić-Tišma, J., Morić, I., Zukić, B.,& Stevanović, M.. (2023). Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome. in 4th Belgrade Bioinformatics Conference
Belgrade : Institute of molecular genetics and genetic engineering., 4, 91-91.
https://hdl.handle.net/21.15107/rcub_imagine_2036

Drakulić D, Rakonjac M, Cuturilo G, Kovačević-Grujičić N, Kušić-Tišma J, Morić I, Zukić B, Stevanović M. Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome. in 4th Belgrade Bioinformatics Conference. 2023;4:91-91.
https://hdl.handle.net/21.15107/rcub_imagine_2036 .

Drakulić, Danijela, Rakonjac, Marijana, Cuturilo, Goran, Kovačević-Grujičić, Nataša, Kušić-Tišma, Jelena, Morić, Ivana, Zukić, Branka, Stevanović, Milena, "Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion Syndrome" in 4th Belgrade Bioinformatics Conference, 4 (2023):91-91,
https://hdl.handle.net/21.15107/rcub_imagine_2036 .

TY  - CONF
AU  - Zukić, Branka
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1898
AB  - Personalized medicine is focused on research disciplines which contribute to the individualization of
therapy, like pharmacogenomics and pharmacotranscriptomics. Acute lymphoblastic leukemia (ALL) is
the most common malignancy of childhood. It is one of the pediatric malignancies with the highest cure
rate, but still a lethal outcome due to therapy accounts for 1- 3% of deaths. Further improvement of
treatment protocols is needed through implementation of pharmacogenomics and
pharmacotranscriptomics. Emerging high-throughput technologies, microarrays and next-generation
sequencing, have provided an enormous amount of molecular data with potential to be implemented in
childhood ALL treatment protocols. In the current review, we summarized the contribution of these
novel technologies to pharmacogenomics and pharmacotranscriptomics of childhood ALL. We have
presented data on molecular markers responsible for efficacy, side effects and toxicity of the drugs
commonly used for childhood ALL treatment, i.e., glucocorticoid drugs, vincristine, asparaginase,
anthracyclines, thiopurines and methotrexate. Big data was generated using high-throughput
technologies, but their implementation in clinical practice is poor. Research efforts have to be focused
on data analysis and designing prediction model using machine learning algorithms. Bioinformatics
tools and implementation of artificial intelligence are expected to open the door wide for personalized
medicine in clinical practice of childhood ALL.
PB  - Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo
C3  - Genetics & Applications
T1  - Pharmacogenomics and pharmacotranscriptomics of acute leukemia in children: a path to personalized medicine
IS  - 2 (Special edition)
SP  - 93
VL  - 7
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1898
ER  - 

@conference{
author = "Zukić, Branka",
year = "2023",
abstract = "Personalized medicine is focused on research disciplines which contribute to the individualization of
therapy, like pharmacogenomics and pharmacotranscriptomics. Acute lymphoblastic leukemia (ALL) is
the most common malignancy of childhood. It is one of the pediatric malignancies with the highest cure
rate, but still a lethal outcome due to therapy accounts for 1- 3% of deaths. Further improvement of
treatment protocols is needed through implementation of pharmacogenomics and
pharmacotranscriptomics. Emerging high-throughput technologies, microarrays and next-generation
sequencing, have provided an enormous amount of molecular data with potential to be implemented in
childhood ALL treatment protocols. In the current review, we summarized the contribution of these
novel technologies to pharmacogenomics and pharmacotranscriptomics of childhood ALL. We have
presented data on molecular markers responsible for efficacy, side effects and toxicity of the drugs
commonly used for childhood ALL treatment, i.e., glucocorticoid drugs, vincristine, asparaginase,
anthracyclines, thiopurines and methotrexate. Big data was generated using high-throughput
technologies, but their implementation in clinical practice is poor. Research efforts have to be focused
on data analysis and designing prediction model using machine learning algorithms. Bioinformatics
tools and implementation of artificial intelligence are expected to open the door wide for personalized
medicine in clinical practice of childhood ALL.",
publisher = "Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo",
journal = "Genetics & Applications",
title = "Pharmacogenomics and pharmacotranscriptomics of acute leukemia in children: a path to personalized medicine",
number = "2 (Special edition)",
pages = "93",
volume = "7",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1898"
}

Zukić, B.. (2023). Pharmacogenomics and pharmacotranscriptomics of acute leukemia in children: a path to personalized medicine. in Genetics & Applications
Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo., 7(2 (Special edition)), 93.
https://hdl.handle.net/21.15107/rcub_imagine_1898

Zukić B. Pharmacogenomics and pharmacotranscriptomics of acute leukemia in children: a path to personalized medicine. in Genetics & Applications. 2023;7(2 (Special edition)):93.
https://hdl.handle.net/21.15107/rcub_imagine_1898 .

Zukić, Branka, "Pharmacogenomics and pharmacotranscriptomics of acute leukemia in children: a path to personalized medicine" in Genetics & Applications, 7, no. 2 (Special edition) (2023):93,
https://hdl.handle.net/21.15107/rcub_imagine_1898 .

TY  - CONF
AU  - Jelovac, Marina
AU  - Kotur, Nikola
AU  - Ristivojević, Bojan
AU  - Pavlović, Đorđe
AU  - Spasovski, Vesna
AU  - Damjanov, Nemanja
AU  - Pavlović, Sonja
AU  - Zukić, Branka
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2119
AB  - Introduction: Systemic sclerosis(SSc) is a rare autoimmune disorder that affects connective tissues and
hasthe highest morbidity and mortality among rheumatologic diseases. Clinical presentations as well as
disease progression are highly heterogeneous between patients, implying a strong need for individualization of therapy.
Methods: Four pharmacogenetic variants, namely TPMT rs1800460, TPMT rs1142345, MTHFR rs1801133
and SLCO1B1 rs4149056 were tested for association with severe disease outcomes in 102 patients with
SSc from Serbia treated either with immunosuppressants azathioprine (AZA) and methotrexate (MTX) or
with other types of medications. Genotyping was performed using PCR-RFLP and direct Sanger sequencing. R software was used for statistical analysis and development of polygenic risk score (PRS)
model.
Results: Association wasfound between MTHFR rs1801133 and higher risk for elevated systolic pressure
in all patients except those prescribed with MTX, and higher risk for kidney insufficiency in patients prescribed with other types of drugs. In patients treated with MTX, variant SLCO1B1 rs4149056 was protective against kidney insufficiency. For patients receiving MTX a trend was shown for having a higher PRS
rank and elevated systolic pressure.
Conclusion: Our results open a door wide for more extensive research on pharmacogenomics markers
in patients with SSc. Altogether, pharmacogenomics markers could predict the outcome of patients with
SSc and help in prevention of adverse drug reactions
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Can pharmacogenetic variants in TPMT, MTHFR and SLCO1B1 genes be used as potential markers of outcome prediction in systemic sclerosis patients?
EP  - 64
SP  - 64
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2119
ER  - 

@conference{
author = "Jelovac, Marina and Kotur, Nikola and Ristivojević, Bojan and Pavlović, Đorđe and Spasovski, Vesna and Damjanov, Nemanja and Pavlović, Sonja and Zukić, Branka",
year = "2023",
abstract = "Introduction: Systemic sclerosis(SSc) is a rare autoimmune disorder that affects connective tissues and
hasthe highest morbidity and mortality among rheumatologic diseases. Clinical presentations as well as
disease progression are highly heterogeneous between patients, implying a strong need for individualization of therapy.
Methods: Four pharmacogenetic variants, namely TPMT rs1800460, TPMT rs1142345, MTHFR rs1801133
and SLCO1B1 rs4149056 were tested for association with severe disease outcomes in 102 patients with
SSc from Serbia treated either with immunosuppressants azathioprine (AZA) and methotrexate (MTX) or
with other types of medications. Genotyping was performed using PCR-RFLP and direct Sanger sequencing. R software was used for statistical analysis and development of polygenic risk score (PRS)
model.
Results: Association wasfound between MTHFR rs1801133 and higher risk for elevated systolic pressure
in all patients except those prescribed with MTX, and higher risk for kidney insufficiency in patients prescribed with other types of drugs. In patients treated with MTX, variant SLCO1B1 rs4149056 was protective against kidney insufficiency. For patients receiving MTX a trend was shown for having a higher PRS
rank and elevated systolic pressure.
Conclusion: Our results open a door wide for more extensive research on pharmacogenomics markers
in patients with SSc. Altogether, pharmacogenomics markers could predict the outcome of patients with
SSc and help in prevention of adverse drug reactions",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Can pharmacogenetic variants in TPMT, MTHFR and SLCO1B1 genes be used as potential markers of outcome prediction in systemic sclerosis patients?",
pages = "64-64",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2119"
}

Jelovac, M., Kotur, N., Ristivojević, B., Pavlović, Đ., Spasovski, V., Damjanov, N., Pavlović, S.,& Zukić, B.. (2023). Can pharmacogenetic variants in TPMT, MTHFR and SLCO1B1 genes be used as potential markers of outcome prediction in systemic sclerosis patients?. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 64-64.
https://hdl.handle.net/21.15107/rcub_imagine_2119

Jelovac M, Kotur N, Ristivojević B, Pavlović Đ, Spasovski V, Damjanov N, Pavlović S, Zukić B. Can pharmacogenetic variants in TPMT, MTHFR and SLCO1B1 genes be used as potential markers of outcome prediction in systemic sclerosis patients?. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:64-64.
https://hdl.handle.net/21.15107/rcub_imagine_2119 .

Jelovac, Marina, Kotur, Nikola, Ristivojević, Bojan, Pavlović, Đorđe, Spasovski, Vesna, Damjanov, Nemanja, Pavlović, Sonja, Zukić, Branka, "Can pharmacogenetic variants in TPMT, MTHFR and SLCO1B1 genes be used as potential markers of outcome prediction in systemic sclerosis patients?" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):64-64,
https://hdl.handle.net/21.15107/rcub_imagine_2119 .

TY  - CONF
AU  - Zukić, Branka
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2109
AB  - Introduction: The clinical picture and the course of the disease in COVID-19 patients, caused by coronavirus SARS-CoV-2, vary from asymptomatic to fatal outcome. As the same agent cause the disease, the
individual genomic profile of the patient could contribute to better understanding of this phenomenon.
The current knowledge about genetic markers responsible for a wide range of clinical pictures, as well
as possible application of individualized treatment, will be presented.
Methods: Variantsin genesresponsible for predisposition and response to SARS-CoV-2 infection, pharmacogenetic variantsrelated to drugs used in the treatment of COVID-19, nutrigenetic markersin genes
relevant for the metabolism of the micronutrients(vitamin D,selenium and zinc) were investigated using
GWAS, PCR and sequencing. Genotype data were extracted from database previously obtained using
TruSight One Gene Panel (Illumina).
Results: Eleven pharmacogenomics markers in 7 pharmacogenes relevant for COVID-19 treatment and
10 variants affecting the structure and/or function of proteinsimportant forsusceptibility and resistance
to SARS-CoV-2 infection were identified. Several variants in genes related to micronutrients were associated with severe COVID-19. Moreover, GWAS detected a significant genetic signal associated with
COVID-19 related pneumonia.
Conclusion: Multidisciplinary approach, modern sequencing technologies, comprehensive studies with
well-characterized patients’groups, as well as the design of robust bioinformatics tools, enable identification of novel human genetic markers associated with COVID-19. Newly gained knowledge will empower the development of the targeted therapy, as well as the implementation of
nutrigenomics/pharmacogenomics, leading to the application of precision medicine in the treatment of
COVID-19 patients.
PB  - Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade
C3  - CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
T1  - Precision medicine and COVID-19: Importance of host genome profiling
EP  - 30
SP  - 30
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2109
ER  - 

@conference{
author = "Zukić, Branka",
year = "2023",
abstract = "Introduction: The clinical picture and the course of the disease in COVID-19 patients, caused by coronavirus SARS-CoV-2, vary from asymptomatic to fatal outcome. As the same agent cause the disease, the
individual genomic profile of the patient could contribute to better understanding of this phenomenon.
The current knowledge about genetic markers responsible for a wide range of clinical pictures, as well
as possible application of individualized treatment, will be presented.
Methods: Variantsin genesresponsible for predisposition and response to SARS-CoV-2 infection, pharmacogenetic variantsrelated to drugs used in the treatment of COVID-19, nutrigenetic markersin genes
relevant for the metabolism of the micronutrients(vitamin D,selenium and zinc) were investigated using
GWAS, PCR and sequencing. Genotype data were extracted from database previously obtained using
TruSight One Gene Panel (Illumina).
Results: Eleven pharmacogenomics markers in 7 pharmacogenes relevant for COVID-19 treatment and
10 variants affecting the structure and/or function of proteinsimportant forsusceptibility and resistance
to SARS-CoV-2 infection were identified. Several variants in genes related to micronutrients were associated with severe COVID-19. Moreover, GWAS detected a significant genetic signal associated with
COVID-19 related pneumonia.
Conclusion: Multidisciplinary approach, modern sequencing technologies, comprehensive studies with
well-characterized patients’groups, as well as the design of robust bioinformatics tools, enable identification of novel human genetic markers associated with COVID-19. Newly gained knowledge will empower the development of the targeted therapy, as well as the implementation of
nutrigenomics/pharmacogenomics, leading to the application of precision medicine in the treatment of
COVID-19 patients.",
publisher = "Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade",
journal = "CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia",
title = "Precision medicine and COVID-19: Importance of host genome profiling",
pages = "30-30",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2109"
}

Zukić, B.. (2023). Precision medicine and COVID-19: Importance of host genome profiling. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia
Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade., 30-30.
https://hdl.handle.net/21.15107/rcub_imagine_2109

Zukić B. Precision medicine and COVID-19: Importance of host genome profiling. in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia. 2023;:30-30.
https://hdl.handle.net/21.15107/rcub_imagine_2109 .

Zukić, Branka, "Precision medicine and COVID-19: Importance of host genome profiling" in CoMBoS2 – the Second Congress of Molecular Biologists of Serbia, Abstract Book – Trends in Molecular Biology, Special issue 06-08 October 2023, Belgrade, Serbia (2023):30-30,
https://hdl.handle.net/21.15107/rcub_imagine_2109 .

TY  - CONF
AU  - Ristivojević, Bojan
AU  - Kotur, Nikola
AU  - Stanković, Biljana
AU  - Gašić, Vladimir
AU  - Pavlović, Đorđe
AU  - Jelovac, Marina
AU  - Pavlović, Sonja
AU  - Zukić, Branka
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1902
AB  - Vincristine (VCR) is one of the key drugs in current treatment protocols for pediatric acute
lymphoblastic leukemia (ALL). By destabilization of microtubules, VCR arrests cells in metaphase,
inducing apoptosis of malignant cells. VCR also causes axonal degradation and impairment of axonal
transport, which leads to vincristine-induced peripheral neuropathy (VIPN). The aim of this study was
to determine if the selected genetic variants are associated with the development of VIPN in ALL
children treated with VCR in Serbia. This study also aimed to discover candidate pharmacogenomic
markers of VIPN in Serbian population. PCR and sequencing-based methodology was used to detect
variants in following genes: CYP3А5 (rs776746), CEP72 (rs924607), ACTG1 (rs1135989), MIR3117
(rs12402181) and MIR4481 (rs7896283). Statistical analyses were performed for investigation of their
association with VIPN in 56 pediatric ALL patients. Population VCR pharmacogenomics analysis of 17
pharmacogenes from in-house next-generation sequencing data was also done. Data on allele frequency
distribution for European population were extracted from public databases. During the treatment,
17.86% of patients developed VIPN. Association analyses have shown that none of the investigated
genetic variants contributed to the occurrence of VIPN in our study group. Population
pharmacogenomics study didn’t reveal valid candidate pharmacovariants for the occurrence of VIPN.
Our results suggested that pre-emptive pharmacogenetic testing for VCR is not applicable. More
comprehensive approaches are needed to identify panel of genes that could explain the VIPN
development after VCR administration in ALL patients. Utilizing better designed GWAS studies and
more robust artificial intelligence-based tools would provide a panel of pharmacogenes for pre-emptive
tests of VIPN to individualize therapy for ALL in children.
PB  - Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo
C3  - Genetics & Applications
T1  - The pharmacogenomics of vincristine-induced peripheral neuropathy in pediatric acute lymphoblastic leukemia patients in Serbia
IS  - 2 (Special edition)
SP  - 109
VL  - 7
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1902
ER  - 

@conference{
author = "Ristivojević, Bojan and Kotur, Nikola and Stanković, Biljana and Gašić, Vladimir and Pavlović, Đorđe and Jelovac, Marina and Pavlović, Sonja and Zukić, Branka",
year = "2023",
abstract = "Vincristine (VCR) is one of the key drugs in current treatment protocols for pediatric acute
lymphoblastic leukemia (ALL). By destabilization of microtubules, VCR arrests cells in metaphase,
inducing apoptosis of malignant cells. VCR also causes axonal degradation and impairment of axonal
transport, which leads to vincristine-induced peripheral neuropathy (VIPN). The aim of this study was
to determine if the selected genetic variants are associated with the development of VIPN in ALL
children treated with VCR in Serbia. This study also aimed to discover candidate pharmacogenomic
markers of VIPN in Serbian population. PCR and sequencing-based methodology was used to detect
variants in following genes: CYP3А5 (rs776746), CEP72 (rs924607), ACTG1 (rs1135989), MIR3117
(rs12402181) and MIR4481 (rs7896283). Statistical analyses were performed for investigation of their
association with VIPN in 56 pediatric ALL patients. Population VCR pharmacogenomics analysis of 17
pharmacogenes from in-house next-generation sequencing data was also done. Data on allele frequency
distribution for European population were extracted from public databases. During the treatment,
17.86% of patients developed VIPN. Association analyses have shown that none of the investigated
genetic variants contributed to the occurrence of VIPN in our study group. Population
pharmacogenomics study didn’t reveal valid candidate pharmacovariants for the occurrence of VIPN.
Our results suggested that pre-emptive pharmacogenetic testing for VCR is not applicable. More
comprehensive approaches are needed to identify panel of genes that could explain the VIPN
development after VCR administration in ALL patients. Utilizing better designed GWAS studies and
more robust artificial intelligence-based tools would provide a panel of pharmacogenes for pre-emptive
tests of VIPN to individualize therapy for ALL in children.",
publisher = "Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo",
journal = "Genetics & Applications",
title = "The pharmacogenomics of vincristine-induced peripheral neuropathy in pediatric acute lymphoblastic leukemia patients in Serbia",
number = "2 (Special edition)",
pages = "109",
volume = "7",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1902"
}

Ristivojević, B., Kotur, N., Stanković, B., Gašić, V., Pavlović, Đ., Jelovac, M., Pavlović, S.,& Zukić, B.. (2023). The pharmacogenomics of vincristine-induced peripheral neuropathy in pediatric acute lymphoblastic leukemia patients in Serbia. in Genetics & Applications
Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo., 7(2 (Special edition)), 109.
https://hdl.handle.net/21.15107/rcub_imagine_1902

Ristivojević B, Kotur N, Stanković B, Gašić V, Pavlović Đ, Jelovac M, Pavlović S, Zukić B. The pharmacogenomics of vincristine-induced peripheral neuropathy in pediatric acute lymphoblastic leukemia patients in Serbia. in Genetics & Applications. 2023;7(2 (Special edition)):109.
https://hdl.handle.net/21.15107/rcub_imagine_1902 .

Ristivojević, Bojan, Kotur, Nikola, Stanković, Biljana, Gašić, Vladimir, Pavlović, Đorđe, Jelovac, Marina, Pavlović, Sonja, Zukić, Branka, "The pharmacogenomics of vincristine-induced peripheral neuropathy in pediatric acute lymphoblastic leukemia patients in Serbia" in Genetics & Applications, 7, no. 2 (Special edition) (2023):109,
https://hdl.handle.net/21.15107/rcub_imagine_1902 .

TY  - CONF
AU  - Pavlović, Đorđe
AU  - Tošić, Nataša
AU  - Zukić, Branka
AU  - Pravdić, Zlatko
AU  - Suvajdžić Vuković, Nada
AU  - Pavlović, Sonja
AU  - Gašić, Vladimir
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1742
AB  - Akutna mijeloidna leukemija (AML) je heterogeno maligno oboljenje kako na
kliničkom tako i na genetičkom nivou. AML ima lošu prognozu, i zato postoji
konstantna potreba za novim prognostičkim markerima, kao i markerima koji
mogu biti mete za inovativne terapeutike. U skorije vreme potraga za novim
biomarkerima je naučnicima skrenula pažnju ka nekodirajućim RNK, naročito
dugim nekodirajućim RNK (dnkRNK) i mikroRNK (miRNK). U ovom radu ispitali
smo nivo ekspresije „growth arrest-specific transcript 5“ (GAS5) dnkRNK kod 94
mlađih osoba obolelih od AML, kao i nivo ekspresije miR-222 u grupi od 39
osoba obolelih od AML sa normalnim kariotipom (AML-NK), u cilju da
ispitamo njihov prognostički potencijal. Naši rezultati su pokazali da je nivo
ekspresije GAS5 kod obolelih od AML niži u poređenju sa zdravim kontrolama, i
češći je u grupi sa nepovoljnom prognozom. U AML-NK grupi pacijenti su imali
povišenu ekspresiju miR-222 u poređenju sa zdravim kontrolama. Sinergistički
efekat „GAS5low/miR-222 high“ nije utvrđen. Ovo je prva studija koja je ispitala
interakciju ekspresije GAS5 i miR-222 kod obolelih od AML. Naši rezultati
indikuju potrebu za daljim ispitivanjem ove dve nekodirajuće RNK i njihove
potencijalne uloge u leukemogenezi i prognostici AML pacijenata.
AB  - Акутна мијелоидна леукемија (АМЛ) је хетерогено малигно обољење како на
клиничком тако и на генетичком нивоу. АМЛ има лошу прогнозу, и зато постоји
константна потреба за новим прогностичким маркерима, као и маркерима који
могу бити мете за иновативне терапеутике. У скорије време потрага за новим
биомаркерима је научницима скренула пажњу ка некодирајућим РНК, нарочито
дугим некодирајућим РНК (днкРНК) и микроРНК (миРНК). У овом раду испитали
смо ниво експресије „growth arrest-specific transcript 5“ (GAS5) днкРНК код 94
млађих особа оболелих од АМЛ, као и ниво експресије miR-222 у групи од 39
особа оболелих од АМЛ са нормалним кариотипом (АМЛ-НК), у циљу да
испитамо њихов прогностички потенцијал. Наши резултати су показали да је ниво
експресије GAS5 код оболелих од АМЛ нижи у поређењу са здравим контролама, и
чешћи је у групи са неповољном прогнозом. У АМЛ-НК групи пацијенти су имали
повишену експресију miR-222 у поређењу са здравим контролама. Синергистички
ефекат „GAS5low/miR-222 high“ није утврђен. Ово је прва студија која је испитала
интеракцију експресије GAS5 и miR-222 код оболелих од АМЛ. Наши резултати
индикују потребу за даљим испитивањем ове две некодирајуће РНК и њихове
потенцијалне улоге у леукемогенези и прогностици АМЛ пацијената.
PB  - Beograd : Srpsko biološko društvo
C3  - Treći kongres biologa Srbije
T1  - Ekspresioni obrazac duge nekodirajuće RNK GAS5 i mikroRNK- 222 kod mlađih pacijenata obolelih od AML
T1  - Експресиони образац дуге некодирајуће РНК GAS5 и микроРНК- 222 код млађих пацијената оболелих од АМЛ
SP  - 302
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1742
ER  - 

@conference{
author = "Pavlović, Đorđe and Tošić, Nataša and Zukić, Branka and Pravdić, Zlatko and Suvajdžić Vuković, Nada and Pavlović, Sonja and Gašić, Vladimir",
year = "2022",
abstract = "Akutna mijeloidna leukemija (AML) je heterogeno maligno oboljenje kako na
kliničkom tako i na genetičkom nivou. AML ima lošu prognozu, i zato postoji
konstantna potreba za novim prognostičkim markerima, kao i markerima koji
mogu biti mete za inovativne terapeutike. U skorije vreme potraga za novim
biomarkerima je naučnicima skrenula pažnju ka nekodirajućim RNK, naročito
dugim nekodirajućim RNK (dnkRNK) i mikroRNK (miRNK). U ovom radu ispitali
smo nivo ekspresije „growth arrest-specific transcript 5“ (GAS5) dnkRNK kod 94
mlađih osoba obolelih od AML, kao i nivo ekspresije miR-222 u grupi od 39
osoba obolelih od AML sa normalnim kariotipom (AML-NK), u cilju da
ispitamo njihov prognostički potencijal. Naši rezultati su pokazali da je nivo
ekspresije GAS5 kod obolelih od AML niži u poređenju sa zdravim kontrolama, i
češći je u grupi sa nepovoljnom prognozom. U AML-NK grupi pacijenti su imali
povišenu ekspresiju miR-222 u poređenju sa zdravim kontrolama. Sinergistički
efekat „GAS5low/miR-222 high“ nije utvrđen. Ovo je prva studija koja je ispitala
interakciju ekspresije GAS5 i miR-222 kod obolelih od AML. Naši rezultati
indikuju potrebu za daljim ispitivanjem ove dve nekodirajuće RNK i njihove
potencijalne uloge u leukemogenezi i prognostici AML pacijenata., Акутна мијелоидна леукемија (АМЛ) је хетерогено малигно обољење како на
клиничком тако и на генетичком нивоу. АМЛ има лошу прогнозу, и зато постоји
константна потреба за новим прогностичким маркерима, као и маркерима који
могу бити мете за иновативне терапеутике. У скорије време потрага за новим
биомаркерима је научницима скренула пажњу ка некодирајућим РНК, нарочито
дугим некодирајућим РНК (днкРНК) и микроРНК (миРНК). У овом раду испитали
смо ниво експресије „growth arrest-specific transcript 5“ (GAS5) днкРНК код 94
млађих особа оболелих од АМЛ, као и ниво експресије miR-222 у групи од 39
особа оболелих од АМЛ са нормалним кариотипом (АМЛ-НК), у циљу да
испитамо њихов прогностички потенцијал. Наши резултати су показали да је ниво
експресије GAS5 код оболелих од АМЛ нижи у поређењу са здравим контролама, и
чешћи је у групи са неповољном прогнозом. У АМЛ-НК групи пацијенти су имали
повишену експресију miR-222 у поређењу са здравим контролама. Синергистички
ефекат „GAS5low/miR-222 high“ није утврђен. Ово је прва студија која је испитала
интеракцију експресије GAS5 и miR-222 код оболелих од АМЛ. Наши резултати
индикују потребу за даљим испитивањем ове две некодирајуће РНК и њихове
потенцијалне улоге у леукемогенези и прогностици АМЛ пацијената.",
publisher = "Beograd : Srpsko biološko društvo",
journal = "Treći kongres biologa Srbije",
title = "Ekspresioni obrazac duge nekodirajuće RNK GAS5 i mikroRNK- 222 kod mlađih pacijenata obolelih od AML, Експресиони образац дуге некодирајуће РНК GAS5 и микроРНК- 222 код млађих пацијената оболелих од АМЛ",
pages = "302",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1742"
}

Pavlović, Đ., Tošić, N., Zukić, B., Pravdić, Z., Suvajdžić Vuković, N., Pavlović, S.,& Gašić, V.. (2022). Ekspresioni obrazac duge nekodirajuće RNK GAS5 i mikroRNK- 222 kod mlađih pacijenata obolelih od AML. in Treći kongres biologa Srbije
Beograd : Srpsko biološko društvo., 302.
https://hdl.handle.net/21.15107/rcub_imagine_1742

Pavlović Đ, Tošić N, Zukić B, Pravdić Z, Suvajdžić Vuković N, Pavlović S, Gašić V. Ekspresioni obrazac duge nekodirajuće RNK GAS5 i mikroRNK- 222 kod mlađih pacijenata obolelih od AML. in Treći kongres biologa Srbije. 2022;:302.
https://hdl.handle.net/21.15107/rcub_imagine_1742 .

Pavlović, Đorđe, Tošić, Nataša, Zukić, Branka, Pravdić, Zlatko, Suvajdžić Vuković, Nada, Pavlović, Sonja, Gašić, Vladimir, "Ekspresioni obrazac duge nekodirajuće RNK GAS5 i mikroRNK- 222 kod mlađih pacijenata obolelih od AML" in Treći kongres biologa Srbije (2022):302,
https://hdl.handle.net/21.15107/rcub_imagine_1742 .

TY  - JOUR
AU  - Gašić, Vladimir
AU  - Karan-Đurašević, Teodora
AU  - Pavlović, Đorđe
AU  - Zukić, Branka
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1660
AB  - Leukemia is a heterogenous group of hematological malignancies categorized in four main types (acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML) and chronic lymphocytic leukemia (CLL). Several cytogenetic and molecular markers have become a part of routine analysis for leukemia patients. These markers have been used in diagnosis, risk-stratification and targeted therapy application. Recent studies have indicated that numerous regulatory RNAs, such as long non-coding RNAs (lncRNAs), have a role in tumor initiation and progression. When it comes to leukemia, data for lncRNA involvement in its etiology, progression, diagnosis, treatment and prognosis is limited. The aim of this review is to summarize research data on lncRNAs in different types of leukemia, on their expression pattern, their role in leukemic transformation and disease progression. The usefulness of this information in the clinical setting, i.e., for diagnostic and prognostic purposes, will be emphasized. Finally, how particular lncRNAs could be used as potential targets for the application of targeted therapy will be considered.
T2  - Life
T2  - Life
T1  - Diagnostic and Therapeutic Implications of Long Non-Coding RNAs in Leukemia
IS  - 11
SP  - 1770
VL  - 12
DO  - 10.3390/life12111770
ER  - 

@article{
author = "Gašić, Vladimir and Karan-Đurašević, Teodora and Pavlović, Đorđe and Zukić, Branka and Pavlović, Sonja and Tošić, Nataša",
year = "2022",
abstract = "Leukemia is a heterogenous group of hematological malignancies categorized in four main types (acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), chronic myeloid leukemia (CML) and chronic lymphocytic leukemia (CLL). Several cytogenetic and molecular markers have become a part of routine analysis for leukemia patients. These markers have been used in diagnosis, risk-stratification and targeted therapy application. Recent studies have indicated that numerous regulatory RNAs, such as long non-coding RNAs (lncRNAs), have a role in tumor initiation and progression. When it comes to leukemia, data for lncRNA involvement in its etiology, progression, diagnosis, treatment and prognosis is limited. The aim of this review is to summarize research data on lncRNAs in different types of leukemia, on their expression pattern, their role in leukemic transformation and disease progression. The usefulness of this information in the clinical setting, i.e., for diagnostic and prognostic purposes, will be emphasized. Finally, how particular lncRNAs could be used as potential targets for the application of targeted therapy will be considered.",
journal = "Life, Life",
title = "Diagnostic and Therapeutic Implications of Long Non-Coding RNAs in Leukemia",
number = "11",
pages = "1770",
volume = "12",
doi = "10.3390/life12111770"
}

Gašić, V., Karan-Đurašević, T., Pavlović, Đ., Zukić, B., Pavlović, S.,& Tošić, N.. (2022). Diagnostic and Therapeutic Implications of Long Non-Coding RNAs in Leukemia. in Life, 12(11), 1770.
https://doi.org/10.3390/life12111770

Gašić V, Karan-Đurašević T, Pavlović Đ, Zukić B, Pavlović S, Tošić N. Diagnostic and Therapeutic Implications of Long Non-Coding RNAs in Leukemia. in Life. 2022;12(11):1770.
doi:10.3390/life12111770 .

Gašić, Vladimir, Karan-Đurašević, Teodora, Pavlović, Đorđe, Zukić, Branka, Pavlović, Sonja, Tošić, Nataša, "Diagnostic and Therapeutic Implications of Long Non-Coding RNAs in Leukemia" in Life, 12, no. 11 (2022):1770,
https://doi.org/10.3390/life12111770 . .

TY  - JOUR
AU  - Zecević, Marko
AU  - Kotur, Nikola
AU  - Ristivojević, Bojan
AU  - Gašić, Vladimir
AU  - Skodrić-Trifunović, Vesna
AU  - Stjepanović, Mihailo
AU  - Stevanović, Goran
AU  - Lavadinović, Lidija
AU  - Zukić, Branka
AU  - Pavlović, Sonja
AU  - Stanković, Biljana
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1515
AB  - Host genetics, an important contributor to the COVID-19 clinical susceptibility and severity, currently is the focus of multiple genome-wide association studies (GWAS) in populations affected by the pandemic. This is the first study from Serbia that performed a GWAS of COVID-19 outcomes to identify genetic risk markers of disease severity. A group of 128 hospitalized COVID-19 patients from the Serbian population was enrolled in the study. We conducted a GWAS comparing (1) patients with pneumonia (n = 80) against patients without pneumonia (n = 48), and (2) severe (n = 34) against mild disease (n = 48) patients, using a genotyping array followed by imputation of missing genotypes. We have detected a significant signal associated with COVID-19 related pneumonia at locus 13q21.33, with a peak residing upstream of the gene KLHL1 (p = 1.91 x 10(-8)). Our study also replicated a previously reported COVID-19 risk locus at 3p21.31, identifying lead variants in SACM1L and LZTFL1 genes suggestively associated with pneumonia (p = 7.54 x 10(-6)) and severe COVID-19 (p = 6.88 x 10(-7)), respectively. Suggestive association with COVID-19 pneumonia has also been observed at chromosomes 5p15.33 (IRX, NDUFS6, MRPL36, p = 2.81 x 10(-6)), 5q11.2 (ESM1, p = 6.59 x 10(-6)), and 9p23 (TYRP1, LURAP1L, p = 8.69 x 10(-6)). The genes located in or near the risk loci are expressed in neural or lung tissues, and have been previously associated with respiratory diseases such as asthma and COVID-19 or reported as differentially expressed in COVID-19 gene expression profiling studies. Our results revealed novel risk loci for pneumonia and severe COVID-19 disease which could contribute to a better understanding of the COVID-19 host genetics in different populations.
PB  - Frontiers Media Sa, Lausanne
T2  - Frontiers in Genetics
T1  - Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population
VL  - 13
DO  - 10.3389/fgene.2022.911010
ER  - 

@article{
author = "Zecević, Marko and Kotur, Nikola and Ristivojević, Bojan and Gašić, Vladimir and Skodrić-Trifunović, Vesna and Stjepanović, Mihailo and Stevanović, Goran and Lavadinović, Lidija and Zukić, Branka and Pavlović, Sonja and Stanković, Biljana",
year = "2022",
abstract = "Host genetics, an important contributor to the COVID-19 clinical susceptibility and severity, currently is the focus of multiple genome-wide association studies (GWAS) in populations affected by the pandemic. This is the first study from Serbia that performed a GWAS of COVID-19 outcomes to identify genetic risk markers of disease severity. A group of 128 hospitalized COVID-19 patients from the Serbian population was enrolled in the study. We conducted a GWAS comparing (1) patients with pneumonia (n = 80) against patients without pneumonia (n = 48), and (2) severe (n = 34) against mild disease (n = 48) patients, using a genotyping array followed by imputation of missing genotypes. We have detected a significant signal associated with COVID-19 related pneumonia at locus 13q21.33, with a peak residing upstream of the gene KLHL1 (p = 1.91 x 10(-8)). Our study also replicated a previously reported COVID-19 risk locus at 3p21.31, identifying lead variants in SACM1L and LZTFL1 genes suggestively associated with pneumonia (p = 7.54 x 10(-6)) and severe COVID-19 (p = 6.88 x 10(-7)), respectively. Suggestive association with COVID-19 pneumonia has also been observed at chromosomes 5p15.33 (IRX, NDUFS6, MRPL36, p = 2.81 x 10(-6)), 5q11.2 (ESM1, p = 6.59 x 10(-6)), and 9p23 (TYRP1, LURAP1L, p = 8.69 x 10(-6)). The genes located in or near the risk loci are expressed in neural or lung tissues, and have been previously associated with respiratory diseases such as asthma and COVID-19 or reported as differentially expressed in COVID-19 gene expression profiling studies. Our results revealed novel risk loci for pneumonia and severe COVID-19 disease which could contribute to a better understanding of the COVID-19 host genetics in different populations.",
publisher = "Frontiers Media Sa, Lausanne",
journal = "Frontiers in Genetics",
title = "Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population",
volume = "13",
doi = "10.3389/fgene.2022.911010"
}

Zecević, M., Kotur, N., Ristivojević, B., Gašić, V., Skodrić-Trifunović, V., Stjepanović, M., Stevanović, G., Lavadinović, L., Zukić, B., Pavlović, S.,& Stanković, B.. (2022). Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population. in Frontiers in Genetics
Frontiers Media Sa, Lausanne., 13.
https://doi.org/10.3389/fgene.2022.911010

Zecević M, Kotur N, Ristivojević B, Gašić V, Skodrić-Trifunović V, Stjepanović M, Stevanović G, Lavadinović L, Zukić B, Pavlović S, Stanković B. Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population. in Frontiers in Genetics. 2022;13.
doi:10.3389/fgene.2022.911010 .

Zecević, Marko, Kotur, Nikola, Ristivojević, Bojan, Gašić, Vladimir, Skodrić-Trifunović, Vesna, Stjepanović, Mihailo, Stevanović, Goran, Lavadinović, Lidija, Zukić, Branka, Pavlović, Sonja, Stanković, Biljana, "Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population" in Frontiers in Genetics, 13 (2022),
https://doi.org/10.3389/fgene.2022.911010 . .

TY  - JOUR
AU  - Ristivojević, Bojan
AU  - Kotur, Nikola
AU  - Stanković, Biljana
AU  - Gašić, Vladimir
AU  - Lazić, Jelena
AU  - Pavlović, Sonja
AU  - Zukić, Branka
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1569
AB  - Uvod/Cilj Vinkristin je jedan od ključnih lekova u protokolima lečenja dečje akutne limfoblastne leukemije (ALL). Vinkristin dovodi do destabilizacije mikrotubula, čime se ćelija zaustavlja u metafazi i indukuje apoptoza. Takođe dovodi do degradacije aksona i poremećaja aksonskog transporta, uzrokujući vinkristinom indukovanu perifernu neuropatiju (VIPN). Cilj ove studije bio je da istraži povezanost pet varijanti u farmakogenima uključenim u metabolizam vinkristina kod dece obolele od ALL koja su razvila VIPN, u Srbiji. Takođe, cilj nam je bio da otkrijemo kandidate za nove farmakogenomske markere VIPN-a u srpskoj populaciji. Metode Detekcija varijanti gena CYP3A5, CEP72, ACTG1, MIR3117 i MIR4481 izvedena je metodologijom zasnovanom na PCR-u i sekvenciranju. Statističkim metodama je ispitana njihova asocijacija sa VIPN-om kod 56 pedijatrijskih bolesnika obolelih od ALL. Urađena je i populaciona vinkristin farmakogenomska analiza 17 farmakogena iz postojećih podataka dobijenih sekvenciranjem nove generacije u srpskoj populaciji. Podaci o distribuciji frekvencija alela za evropsko stanovništvo preuzeti su iz javnih baza podataka. Rezultati Tokom lečenja, 17,86% bolesnika je razvilo VIPN. Asocijativne analize pokazale su da nijedna genetička varijanta nije bila povezana sa VIPN-om u našoj studiji. Naše populaciono farmakogenomsko istraživanje nije otkrilo validne farmakovarijante za VIPN. Naši rezultati ne preporučuju preventivno farmakogenetičko ispitivanje vinkristina u Srbiji. Zaključak Potreban je sveobuhvatniji pristup kako bi se identifikovao panel gena kojim bi se mogao objasniti razvoj VIPN-a posle primene vinkristina kod pedijatrijskih bolesnika obolelih od ALL. Bolje osmišljene studije asocijacija na nivou genoma (GWAS) i robusniji alati koji koriste veštačku inteligenciju doveli bi do dizajniranja panela farmakogena za preventivno testiranje predispozicije za razvoj VIPN-a, doprinoseći individualizaciji i unapređenju terapije dece obolele od ALL.
AB  - Introduction/Objective Vincristine (VCR) is one of the key drugs in current treatment protocols for pediatric acute lymphoblastic leukemia (ALL). By destabilizing microtubules, VCR arrests cells in metaphase, inducing apoptosis of malignant cells. VCR also causes axonal degradation and impairment of axonal transport, which leads to VCR-induced peripheral neuropathy (VIPN). This study aimed to investigate the association of five variants in pharmacogenes involved in VCR metabolism with VIPN in Serbian ALL children. We also wanted to discover candidate pharmacogenomic markers of VIPN in Serbian population. Methods PCR and sequencing-based methodology was used to detect variants in CYP3A5, CEP72, ACTG1, MIR3117, and MIR4481 genes. Statistical analyses were performed for investigating their association with VIPN in 56 pediatric ALL patients. Population VCR pharmacogenomics analysis of 17 pharmacogenes from in-house next-generation sequencing data was also done. Data on allele frequency distribution for the European population were extracted from public databases. Results During the treatment, 17.86% of patients developed VIPN. Association analyses have shown that none of the genetic variants contributed to the occurrence of VIPN in our study. Population pharmacogenomics study did not reveal valid candidate pharmacovariants for VIPN. Our results suggested that pre-emptive pharmacogenetic testing for VCR is not applicable presently. Conclusion More comprehensive approaches are needed to identify the panel of genes that could explain the VIPN development after VCR administration in ALL patients. Utilizing better designed genome-wide association studies and more robust artificial intelligence-based tools would provide a panel of pharmacogenes for pre-emptive tests of VIPN to individualize therapy for ALL in children.
PB  - Srpsko lekarsko društvo, Beograd
T2  - Srpski arhiv za celokupno lekarstvo
T1  - Farmakogenomika vinkristinom indukovane periferne neuropatije kod dece sa akutnom limfoblastnom leukemijom u Srbiji - iskustvo jednog centra
T1  - The pharmacogenomics of vincristine-induced peripheral neuropathy in pediatric acute lymphoblastic leukemia patients in Serbia: A single center experience
EP  - 58
IS  - 1-2
SP  - 53
VL  - 150
DO  - 10.2298/SARH210813099R
ER  - 

@article{
author = "Ristivojević, Bojan and Kotur, Nikola and Stanković, Biljana and Gašić, Vladimir and Lazić, Jelena and Pavlović, Sonja and Zukić, Branka",
year = "2022",
abstract = "Uvod/Cilj Vinkristin je jedan od ključnih lekova u protokolima lečenja dečje akutne limfoblastne leukemije (ALL). Vinkristin dovodi do destabilizacije mikrotubula, čime se ćelija zaustavlja u metafazi i indukuje apoptoza. Takođe dovodi do degradacije aksona i poremećaja aksonskog transporta, uzrokujući vinkristinom indukovanu perifernu neuropatiju (VIPN). Cilj ove studije bio je da istraži povezanost pet varijanti u farmakogenima uključenim u metabolizam vinkristina kod dece obolele od ALL koja su razvila VIPN, u Srbiji. Takođe, cilj nam je bio da otkrijemo kandidate za nove farmakogenomske markere VIPN-a u srpskoj populaciji. Metode Detekcija varijanti gena CYP3A5, CEP72, ACTG1, MIR3117 i MIR4481 izvedena je metodologijom zasnovanom na PCR-u i sekvenciranju. Statističkim metodama je ispitana njihova asocijacija sa VIPN-om kod 56 pedijatrijskih bolesnika obolelih od ALL. Urađena je i populaciona vinkristin farmakogenomska analiza 17 farmakogena iz postojećih podataka dobijenih sekvenciranjem nove generacije u srpskoj populaciji. Podaci o distribuciji frekvencija alela za evropsko stanovništvo preuzeti su iz javnih baza podataka. Rezultati Tokom lečenja, 17,86% bolesnika je razvilo VIPN. Asocijativne analize pokazale su da nijedna genetička varijanta nije bila povezana sa VIPN-om u našoj studiji. Naše populaciono farmakogenomsko istraživanje nije otkrilo validne farmakovarijante za VIPN. Naši rezultati ne preporučuju preventivno farmakogenetičko ispitivanje vinkristina u Srbiji. Zaključak Potreban je sveobuhvatniji pristup kako bi se identifikovao panel gena kojim bi se mogao objasniti razvoj VIPN-a posle primene vinkristina kod pedijatrijskih bolesnika obolelih od ALL. Bolje osmišljene studije asocijacija na nivou genoma (GWAS) i robusniji alati koji koriste veštačku inteligenciju doveli bi do dizajniranja panela farmakogena za preventivno testiranje predispozicije za razvoj VIPN-a, doprinoseći individualizaciji i unapređenju terapije dece obolele od ALL., Introduction/Objective Vincristine (VCR) is one of the key drugs in current treatment protocols for pediatric acute lymphoblastic leukemia (ALL). By destabilizing microtubules, VCR arrests cells in metaphase, inducing apoptosis of malignant cells. VCR also causes axonal degradation and impairment of axonal transport, which leads to VCR-induced peripheral neuropathy (VIPN). This study aimed to investigate the association of five variants in pharmacogenes involved in VCR metabolism with VIPN in Serbian ALL children. We also wanted to discover candidate pharmacogenomic markers of VIPN in Serbian population. Methods PCR and sequencing-based methodology was used to detect variants in CYP3A5, CEP72, ACTG1, MIR3117, and MIR4481 genes. Statistical analyses were performed for investigating their association with VIPN in 56 pediatric ALL patients. Population VCR pharmacogenomics analysis of 17 pharmacogenes from in-house next-generation sequencing data was also done. Data on allele frequency distribution for the European population were extracted from public databases. Results During the treatment, 17.86% of patients developed VIPN. Association analyses have shown that none of the genetic variants contributed to the occurrence of VIPN in our study. Population pharmacogenomics study did not reveal valid candidate pharmacovariants for VIPN. Our results suggested that pre-emptive pharmacogenetic testing for VCR is not applicable presently. Conclusion More comprehensive approaches are needed to identify the panel of genes that could explain the VIPN development after VCR administration in ALL patients. Utilizing better designed genome-wide association studies and more robust artificial intelligence-based tools would provide a panel of pharmacogenes for pre-emptive tests of VIPN to individualize therapy for ALL in children.",
publisher = "Srpsko lekarsko društvo, Beograd",
journal = "Srpski arhiv za celokupno lekarstvo",
title = "Farmakogenomika vinkristinom indukovane periferne neuropatije kod dece sa akutnom limfoblastnom leukemijom u Srbiji - iskustvo jednog centra, The pharmacogenomics of vincristine-induced peripheral neuropathy in pediatric acute lymphoblastic leukemia patients in Serbia: A single center experience",
pages = "58-53",
number = "1-2",
volume = "150",
doi = "10.2298/SARH210813099R"
}

Ristivojević, B., Kotur, N., Stanković, B., Gašić, V., Lazić, J., Pavlović, S.,& Zukić, B.. (2022). Farmakogenomika vinkristinom indukovane periferne neuropatije kod dece sa akutnom limfoblastnom leukemijom u Srbiji - iskustvo jednog centra. in Srpski arhiv za celokupno lekarstvo
Srpsko lekarsko društvo, Beograd., 150(1-2), 53-58.
https://doi.org/10.2298/SARH210813099R

Ristivojević B, Kotur N, Stanković B, Gašić V, Lazić J, Pavlović S, Zukić B. Farmakogenomika vinkristinom indukovane periferne neuropatije kod dece sa akutnom limfoblastnom leukemijom u Srbiji - iskustvo jednog centra. in Srpski arhiv za celokupno lekarstvo. 2022;150(1-2):53-58.
doi:10.2298/SARH210813099R .

Ristivojević, Bojan, Kotur, Nikola, Stanković, Biljana, Gašić, Vladimir, Lazić, Jelena, Pavlović, Sonja, Zukić, Branka, "Farmakogenomika vinkristinom indukovane periferne neuropatije kod dece sa akutnom limfoblastnom leukemijom u Srbiji - iskustvo jednog centra" in Srpski arhiv za celokupno lekarstvo, 150, no. 1-2 (2022):53-58,
https://doi.org/10.2298/SARH210813099R . .

TY  - JOUR
AU  - Pavlović, Đorđe
AU  - Tošić, Nataša
AU  - Zukić, Branka
AU  - Pravdić, Zlatko
AU  - Suvajdžić-Vuković, Nada
AU  - Pavlović, Sonja
AU  - Gašić, Vladimir
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1573
AB  - Acute myeloid leukemia (AML) is a heterogeneous malignant disease both on clinical and genetic levels. AML has poor prognosis and, therefore, there is a constant need to find new prognostic markers, as well as markers that can be used as targets for innovative therapeutics. Recently, the search for new biomarkers has turned researchers' attention towards non-coding RNAs, especially long non-coding RNAs (lncRNAs) and micro RNAs (miRNAs). We investigated the expression level of growth arrest-specific transcript 5 (GAS5) lncRNA in 94 younger AML patients, and also the expression level of miR-222 in a cohort of 39 AML patients with normal karyotype (AML-NK), in order to examine their prognostic potential. Our results showed that GAS5 expression level in AML patients was lower compared to healthy controls. Lower GAS5 expression on diagnosis was related to an adverse prognosis. In the AML-NK group patients had higher expression of miR-222 compared to healthy controls. A synergistic effect of GAS5(low)/miR-222(high) status on disease prognosis was not established. This is the first study focused on examining the GAS5 and miR-222 expression pattern in AML patients. Its initial findings indicate the need for further investigation of these two non-coding RNAs, their potential roles in leukemogenesis, and the prognosis of AML patients.
PB  - MDPI, Basel
T2  - Diagnostics
T1  - Expression Profiles of Long Non-Coding RNA GAS5 and MicroRNA-222 in Younger AML Patients
IS  - 1
VL  - 12
DO  - 10.3390/diagnostics12010086
ER  - 

@article{
author = "Pavlović, Đorđe and Tošić, Nataša and Zukić, Branka and Pravdić, Zlatko and Suvajdžić-Vuković, Nada and Pavlović, Sonja and Gašić, Vladimir",
year = "2022",
abstract = "Acute myeloid leukemia (AML) is a heterogeneous malignant disease both on clinical and genetic levels. AML has poor prognosis and, therefore, there is a constant need to find new prognostic markers, as well as markers that can be used as targets for innovative therapeutics. Recently, the search for new biomarkers has turned researchers' attention towards non-coding RNAs, especially long non-coding RNAs (lncRNAs) and micro RNAs (miRNAs). We investigated the expression level of growth arrest-specific transcript 5 (GAS5) lncRNA in 94 younger AML patients, and also the expression level of miR-222 in a cohort of 39 AML patients with normal karyotype (AML-NK), in order to examine their prognostic potential. Our results showed that GAS5 expression level in AML patients was lower compared to healthy controls. Lower GAS5 expression on diagnosis was related to an adverse prognosis. In the AML-NK group patients had higher expression of miR-222 compared to healthy controls. A synergistic effect of GAS5(low)/miR-222(high) status on disease prognosis was not established. This is the first study focused on examining the GAS5 and miR-222 expression pattern in AML patients. Its initial findings indicate the need for further investigation of these two non-coding RNAs, their potential roles in leukemogenesis, and the prognosis of AML patients.",
publisher = "MDPI, Basel",
journal = "Diagnostics",
title = "Expression Profiles of Long Non-Coding RNA GAS5 and MicroRNA-222 in Younger AML Patients",
number = "1",
volume = "12",
doi = "10.3390/diagnostics12010086"
}

Pavlović, Đ., Tošić, N., Zukić, B., Pravdić, Z., Suvajdžić-Vuković, N., Pavlović, S.,& Gašić, V.. (2022). Expression Profiles of Long Non-Coding RNA GAS5 and MicroRNA-222 in Younger AML Patients. in Diagnostics
MDPI, Basel., 12(1).
https://doi.org/10.3390/diagnostics12010086

Pavlović Đ, Tošić N, Zukić B, Pravdić Z, Suvajdžić-Vuković N, Pavlović S, Gašić V. Expression Profiles of Long Non-Coding RNA GAS5 and MicroRNA-222 in Younger AML Patients. in Diagnostics. 2022;12(1).
doi:10.3390/diagnostics12010086 .

Pavlović, Đorđe, Tošić, Nataša, Zukić, Branka, Pravdić, Zlatko, Suvajdžić-Vuković, Nada, Pavlović, Sonja, Gašić, Vladimir, "Expression Profiles of Long Non-Coding RNA GAS5 and MicroRNA-222 in Younger AML Patients" in Diagnostics, 12, no. 1 (2022),
https://doi.org/10.3390/diagnostics12010086 . .

TY  - CONF
AU  - Zukić, Branka
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1729
AB  - Personalizovana medicina koristi znanja o genetičkoj osnovi bolesti da bi se
individualizovalo lečenje svakog pacijenta. Farmakogenomika je jedan od
najvažnijih osnova za primenu personalizovane medicine. Ona proučava odgovor
čoveka na lekove uslovljen DNK zapisom u genima odgovornim za apsorpciju,
distribuciju, metabolizam i ekskreciju određenog leka. Cilj farmakogenomike je
identifikacija specifičnih gena i genskih produkata koji mogu biti meta za
nove terapeutike, kao i identifikacija gena i alelskih varijanti koji utiču na
odgovor na lekove koji se već koriste u terapiji. Za više od 170 lekova su poznati
farmakogenomski markeri a za 64 postoje uputstva za doziranje na osnovu
genotipa. Primena farmakogenomskih testova pre započinjanja terapije omogućuje
da pacijenti dobiju adekvatnu terapiju. Time se smanjuje pojava komplikacija i
neželjenih efekata zbog kojih se terapija prekida, skraćuje se vreme lečenja i
štedi na bolničkim danima i neadekvatnim lekovima. Populaciona
farmakogenomika ukazuje da je poznavanje farmakogenomskih markera
karakterističnih za populaciju ili etničku zajednicu značajno. Zdravstveni
sistem bi ostvario uštede kada bi se sprovodilo prediktivno farmakogenomsko
testiranje bazirano na genotipu populacije. Farmakogenomski testovi su
dostupni i koriste se u kliničkoj praksi u Srbiji. Utvrđeni su i
farmakogenomski markeri koji su zastupljeni u našoj populaciji sa visokom
učestalošću. Farmakogenomika je dala doprinos individualizaciji lečenja i u
KOVID pandemiji.
AB  - Персонализована медицина користи знања о генетичкој основи болести да би се
индивидуализовало лечење сваког пацијента. Фармакогеномика је један од
најважнијих основа за примену персонализоване медицине. Она проучава одговор
човека на лекове условљен ДНК записом у генима одговорним за апсорпцију,
дистрибуцију, метаболизам и екскрецију одређеног лека. Циљ фармакогеномике је
идентификација специфичних гена и генских продуката који могу бити мета за
нове терапеутике, као и идентификација гена и алелских варијанти који утичу на
одговор на лекове који се већ користе у терапији. За више од 170 лекова су познати
фармакогеномски маркери а за 64 постоје упутства за дозирање на основу
генотипа. Примена фармакогеномских тестова пре започињања терапије омогућује
да пацијенти добију адекватну терапију. Тиме се смањује појава компликација и
нежељених ефеката због којих се терапија прекида, скраћује се време лечења и
штеди на болничким данима и неадекватним лековима. Популациона
фармакогеномика указује да је познавање фармакогеномских маркера
карактеристичних за популацију или етничку заједницу значајно. Здравствени
систем би остварио уштеде када би се спроводило предиктивно фармакогеномско
тестирање базирано на генотипу популације. Фармакогеномски тестови су
доступни и користе се у клиничкој пракси у Србији. Утврђени су и
фармакогеномски маркери који су заступљени у нашој популацији са високом
учесталошћу. Фармакогеномика је дала допринос индивидуализацији лечења и у
КОВИД пандемији.
PB  - Beograd : Srpsko biološko društvo
C3  - Treći kongres biologa Srbije
T1  - Farmakogenomika – osnova personalizovane medicine
T1  - Фармакогеномика – основа персонализоване медицине
SP  - 5
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1729
ER  - 

@conference{
author = "Zukić, Branka",
year = "2022",
abstract = "Personalizovana medicina koristi znanja o genetičkoj osnovi bolesti da bi se
individualizovalo lečenje svakog pacijenta. Farmakogenomika je jedan od
najvažnijih osnova za primenu personalizovane medicine. Ona proučava odgovor
čoveka na lekove uslovljen DNK zapisom u genima odgovornim za apsorpciju,
distribuciju, metabolizam i ekskreciju određenog leka. Cilj farmakogenomike je
identifikacija specifičnih gena i genskih produkata koji mogu biti meta za
nove terapeutike, kao i identifikacija gena i alelskih varijanti koji utiču na
odgovor na lekove koji se već koriste u terapiji. Za više od 170 lekova su poznati
farmakogenomski markeri a za 64 postoje uputstva za doziranje na osnovu
genotipa. Primena farmakogenomskih testova pre započinjanja terapije omogućuje
da pacijenti dobiju adekvatnu terapiju. Time se smanjuje pojava komplikacija i
neželjenih efekata zbog kojih se terapija prekida, skraćuje se vreme lečenja i
štedi na bolničkim danima i neadekvatnim lekovima. Populaciona
farmakogenomika ukazuje da je poznavanje farmakogenomskih markera
karakterističnih za populaciju ili etničku zajednicu značajno. Zdravstveni
sistem bi ostvario uštede kada bi se sprovodilo prediktivno farmakogenomsko
testiranje bazirano na genotipu populacije. Farmakogenomski testovi su
dostupni i koriste se u kliničkoj praksi u Srbiji. Utvrđeni su i
farmakogenomski markeri koji su zastupljeni u našoj populaciji sa visokom
učestalošću. Farmakogenomika je dala doprinos individualizaciji lečenja i u
KOVID pandemiji., Персонализована медицина користи знања о генетичкој основи болести да би се
индивидуализовало лечење сваког пацијента. Фармакогеномика је један од
најважнијих основа за примену персонализоване медицине. Она проучава одговор
човека на лекове условљен ДНК записом у генима одговорним за апсорпцију,
дистрибуцију, метаболизам и екскрецију одређеног лека. Циљ фармакогеномике је
идентификација специфичних гена и генских продуката који могу бити мета за
нове терапеутике, као и идентификација гена и алелских варијанти који утичу на
одговор на лекове који се већ користе у терапији. За више од 170 лекова су познати
фармакогеномски маркери а за 64 постоје упутства за дозирање на основу
генотипа. Примена фармакогеномских тестова пре започињања терапије омогућује
да пацијенти добију адекватну терапију. Тиме се смањује појава компликација и
нежељених ефеката због којих се терапија прекида, скраћује се време лечења и
штеди на болничким данима и неадекватним лековима. Популациона
фармакогеномика указује да је познавање фармакогеномских маркера
карактеристичних за популацију или етничку заједницу значајно. Здравствени
систем би остварио уштеде када би се спроводило предиктивно фармакогеномско
тестирање базирано на генотипу популације. Фармакогеномски тестови су
доступни и користе се у клиничкој пракси у Србији. Утврђени су и
фармакогеномски маркери који су заступљени у нашој популацији са високом
учесталошћу. Фармакогеномика је дала допринос индивидуализацији лечења и у
КОВИД пандемији.",
publisher = "Beograd : Srpsko biološko društvo",
journal = "Treći kongres biologa Srbije",
title = "Farmakogenomika – osnova personalizovane medicine, Фармакогеномика – основа персонализоване медицине",
pages = "5",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1729"
}

Zukić, B.. (2022). Farmakogenomika – osnova personalizovane medicine. in Treći kongres biologa Srbije
Beograd : Srpsko biološko društvo., 5.
https://hdl.handle.net/21.15107/rcub_imagine_1729

Zukić B. Farmakogenomika – osnova personalizovane medicine. in Treći kongres biologa Srbije. 2022;:5.
https://hdl.handle.net/21.15107/rcub_imagine_1729 .

Zukić, Branka, "Farmakogenomika – osnova personalizovane medicine" in Treći kongres biologa Srbije (2022):5,
https://hdl.handle.net/21.15107/rcub_imagine_1729 .

TY  - CONF
AU  - Klaassen, Kristel
AU  - Stanković, Biljana
AU  - Zukić, Branka
AU  - Kotur, Nikola
AU  - Gašić, Vladimir
AU  - Pavlović, Sonja
AU  - Stojiljković, Maja
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1577
PB  - Springernature, London
C3  - European Journal of Human Genetics
T1  - Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection
EP  - 603
IS  - SUPPL 1
SP  - 603
VL  - 30
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1577
ER  - 

@conference{
author = "Klaassen, Kristel and Stanković, Biljana and Zukić, Branka and Kotur, Nikola and Gašić, Vladimir and Pavlović, Sonja and Stojiljković, Maja",
year = "2022",
publisher = "Springernature, London",
journal = "European Journal of Human Genetics",
title = "Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection",
pages = "603-603",
number = "SUPPL 1",
volume = "30",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1577"
}

Klaassen, K., Stanković, B., Zukić, B., Kotur, N., Gašić, V., Pavlović, S.,& Stojiljković, M.. (2022). Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection. in European Journal of Human Genetics
Springernature, London., 30(SUPPL 1), 603-603.
https://hdl.handle.net/21.15107/rcub_imagine_1577

Klaassen K, Stanković B, Zukić B, Kotur N, Gašić V, Pavlović S, Stojiljković M. Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection. in European Journal of Human Genetics. 2022;30(SUPPL 1):603-603.
https://hdl.handle.net/21.15107/rcub_imagine_1577 .

Klaassen, Kristel, Stanković, Biljana, Zukić, Branka, Kotur, Nikola, Gašić, Vladimir, Pavlović, Sonja, Stojiljković, Maja, "Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection" in European Journal of Human Genetics, 30, no. SUPPL 1 (2022):603-603,
https://hdl.handle.net/21.15107/rcub_imagine_1577 .

TY  - CONF
AU  - Zukić, Branka
AU  - Kotur, Nikola
AU  - Stanković, Biljana
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1878
AB  - Clinical picture and course of the disease in patients with COVID-19 vary from asymptomatic to lethal.
Precision medicine could discover the cause of this phenomenon by analyzing the individual genomic
profiles of the patients.
We aimed to understand a host genetic component of COVID-19 focusing on variants in genes encoding
proteases and genes involved in innate immunity, important for susceptibility and resistance to SARS-CoV-2
infection. Also, we wanted to identify phamracogenes and pharmacogenomics markers associated with
drugs used for COVID-19 treatment in different clinical protocols in Serbia, and to compare the results
with various world populations.
Genotype information of 143 individuals of Serbian origin was extracted from database previously obtained
using TruSight One Gene Panel (Illumina). Variants in genes encoding proteases and genes involved in innate
immunity were identified and analysed in silico (PolyPhen-2, SIFT, MutPred2, Swiss-Pdb Viewer) to predict
the impact of the variants to the structure and/or function of proteins. Genotype data from Serbian population
was compared with European and 4 super-populations (total 2504 subjects). Data were extracted from
VCF files of Phase 3 variant calls of the 1000 Genomes Project (1kGP) sample collection via Ensembl Data
Slicer Tool. The level of population genetic variability at each selected loci was examined using the maximal
global differences in minor allele frequencies (delta MAF) calculated by subtracting the maximum and the
minimum MAF across analyzed population groups, and Fst statistics. Fisher exact test was used to measure
differences in genotypes distributions between Serbian and 1kGP populations, applying Bonferoni correction.
R software was utilized for genotype data manipulation and statistical calculations.
Based on high alternative allele frequencies in population and the functional effect of the variants, we identified
variants in genes encoding proteases and involved in the innate immunity that might be relevant for the
host response to SARS-CoV-2 infection. The potential pharmacogenomics markers in pharmacogenes relevant
for COVID-19 treatment were also identified. Bioinformatics tools integrated into precision medicine
could contribute to better understanding of inter-individual and population-specific genetic susceptibility and
resistance to the SARS-CoV-2 infection, therapy response inconsistencies, and could be applied to improve
the outcome of the COVID-19 patients.
PB  - Novi Sad : Faculty of Sciences, Department of Biology and Ecology
C3  - Biologia Serbica
T1  - Precision medicine and COVID-19: importance of host genome profiling and bioinformatics
IS  - 1 (Special Edition)
SP  - 31
VL  - 43
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1878
ER  - 

@conference{
author = "Zukić, Branka and Kotur, Nikola and Stanković, Biljana",
year = "2021",
abstract = "Clinical picture and course of the disease in patients with COVID-19 vary from asymptomatic to lethal.
Precision medicine could discover the cause of this phenomenon by analyzing the individual genomic
profiles of the patients.
We aimed to understand a host genetic component of COVID-19 focusing on variants in genes encoding
proteases and genes involved in innate immunity, important for susceptibility and resistance to SARS-CoV-2
infection. Also, we wanted to identify phamracogenes and pharmacogenomics markers associated with
drugs used for COVID-19 treatment in different clinical protocols in Serbia, and to compare the results
with various world populations.
Genotype information of 143 individuals of Serbian origin was extracted from database previously obtained
using TruSight One Gene Panel (Illumina). Variants in genes encoding proteases and genes involved in innate
immunity were identified and analysed in silico (PolyPhen-2, SIFT, MutPred2, Swiss-Pdb Viewer) to predict
the impact of the variants to the structure and/or function of proteins. Genotype data from Serbian population
was compared with European and 4 super-populations (total 2504 subjects). Data were extracted from
VCF files of Phase 3 variant calls of the 1000 Genomes Project (1kGP) sample collection via Ensembl Data
Slicer Tool. The level of population genetic variability at each selected loci was examined using the maximal
global differences in minor allele frequencies (delta MAF) calculated by subtracting the maximum and the
minimum MAF across analyzed population groups, and Fst statistics. Fisher exact test was used to measure
differences in genotypes distributions between Serbian and 1kGP populations, applying Bonferoni correction.
R software was utilized for genotype data manipulation and statistical calculations.
Based on high alternative allele frequencies in population and the functional effect of the variants, we identified
variants in genes encoding proteases and involved in the innate immunity that might be relevant for the
host response to SARS-CoV-2 infection. The potential pharmacogenomics markers in pharmacogenes relevant
for COVID-19 treatment were also identified. Bioinformatics tools integrated into precision medicine
could contribute to better understanding of inter-individual and population-specific genetic susceptibility and
resistance to the SARS-CoV-2 infection, therapy response inconsistencies, and could be applied to improve
the outcome of the COVID-19 patients.",
publisher = "Novi Sad : Faculty of Sciences, Department of Biology and Ecology",
journal = "Biologia Serbica",
title = "Precision medicine and COVID-19: importance of host genome profiling and bioinformatics",
number = "1 (Special Edition)",
pages = "31",
volume = "43",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1878"
}

Zukić, B., Kotur, N.,& Stanković, B.. (2021). Precision medicine and COVID-19: importance of host genome profiling and bioinformatics. in Biologia Serbica
Novi Sad : Faculty of Sciences, Department of Biology and Ecology., 43(1 (Special Edition)), 31.
https://hdl.handle.net/21.15107/rcub_imagine_1878

Zukić B, Kotur N, Stanković B. Precision medicine and COVID-19: importance of host genome profiling and bioinformatics. in Biologia Serbica. 2021;43(1 (Special Edition)):31.
https://hdl.handle.net/21.15107/rcub_imagine_1878 .

Zukić, Branka, Kotur, Nikola, Stanković, Biljana, "Precision medicine and COVID-19: importance of host genome profiling and bioinformatics" in Biologia Serbica, 43, no. 1 (Special Edition) (2021):31,
https://hdl.handle.net/21.15107/rcub_imagine_1878 .

TY  - CHAP
AU  - Gašić, Vladimir
AU  - Pavlović, Đorđe
AU  - Stanković, Biljana
AU  - Kotur, Nikola
AU  - Zukić, Branka
AU  - Pavlović, Sonja
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1620
AB  - Pharmacogenomics and pharmacotranscriptomics contribute to more efficient and safer treatment of many diseases, especially malignancies. Acute lymphoblastic leukemia (ALL) is the most common hematological malignancy during childhood. Glucocorticoids, prednisone and dexamethasone, represent the basis of chemotherapy in pediatric ALL. Therapy causes side effects in 75% of patients and 1–3% of pediatric ALL patients die because of therapy side effects rather than the disease itself. Due to this fact, pharmacogenomics and pharmacotranscriptomics have gained key positions in this field. There is a growing knowledge of pharmacogenomics and pharmacotranscriptomics markers relevant for the success of the glucocorticoid treatment of children with ALL. New technologies, such as next-generation sequencing (NGS) have created a possibility for designing panels of pharmacogenomics and pharmacotranscriptomics markers related to the response to glucocorticoid drugs. Optimization of these panels through population pharmacogenomic studies leads to new knowledge that could open the doors widely to pre-emptive pharmacogenomic testing.
PB  - IntechOpen
T2  - Corticosteroids : A Paradigmatic Drug Class
T2  - glucocorticoids
T2  - pediatric acute lymphoblastic leukemia
T2  - pharmacogenomics
T2  - pharmacotranscriptomics
T2  - population pharmacogenomics
T1  - Pharmacogenomics and pharmacotranscriptomics of glucocorticoids in pediatric acute lymphoblastic leukemia
EP  - 17
SP  - 1
DO  - 10.5772/intechopen.98887
ER  - 

@inbook{
author = "Gašić, Vladimir and Pavlović, Đorđe and Stanković, Biljana and Kotur, Nikola and Zukić, Branka and Pavlović, Sonja",
year = "2021",
abstract = "Pharmacogenomics and pharmacotranscriptomics contribute to more efficient and safer treatment of many diseases, especially malignancies. Acute lymphoblastic leukemia (ALL) is the most common hematological malignancy during childhood. Glucocorticoids, prednisone and dexamethasone, represent the basis of chemotherapy in pediatric ALL. Therapy causes side effects in 75% of patients and 1–3% of pediatric ALL patients die because of therapy side effects rather than the disease itself. Due to this fact, pharmacogenomics and pharmacotranscriptomics have gained key positions in this field. There is a growing knowledge of pharmacogenomics and pharmacotranscriptomics markers relevant for the success of the glucocorticoid treatment of children with ALL. New technologies, such as next-generation sequencing (NGS) have created a possibility for designing panels of pharmacogenomics and pharmacotranscriptomics markers related to the response to glucocorticoid drugs. Optimization of these panels through population pharmacogenomic studies leads to new knowledge that could open the doors widely to pre-emptive pharmacogenomic testing.",
publisher = "IntechOpen",
journal = "Corticosteroids : A Paradigmatic Drug Class, glucocorticoids, pediatric acute lymphoblastic leukemia, pharmacogenomics, pharmacotranscriptomics, population pharmacogenomics",
booktitle = "Pharmacogenomics and pharmacotranscriptomics of glucocorticoids in pediatric acute lymphoblastic leukemia",
pages = "17-1",
doi = "10.5772/intechopen.98887"
}

Gašić, V., Pavlović, Đ., Stanković, B., Kotur, N., Zukić, B.,& Pavlović, S.. (2021). Pharmacogenomics and pharmacotranscriptomics of glucocorticoids in pediatric acute lymphoblastic leukemia. in Corticosteroids : A Paradigmatic Drug Class
IntechOpen., 1-17.
https://doi.org/10.5772/intechopen.98887

Gašić V, Pavlović Đ, Stanković B, Kotur N, Zukić B, Pavlović S. Pharmacogenomics and pharmacotranscriptomics of glucocorticoids in pediatric acute lymphoblastic leukemia. in Corticosteroids : A Paradigmatic Drug Class. 2021;:1-17.
doi:10.5772/intechopen.98887 .

Gašić, Vladimir, Pavlović, Đorđe, Stanković, Biljana, Kotur, Nikola, Zukić, Branka, Pavlović, Sonja, "Pharmacogenomics and pharmacotranscriptomics of glucocorticoids in pediatric acute lymphoblastic leukemia" in Corticosteroids : A Paradigmatic Drug Class (2021):1-17,
https://doi.org/10.5772/intechopen.98887 . .

TY  - JOUR
AU  - Drljaca, Tamara
AU  - Zukić, Branka
AU  - Kovacević, Vladimir
AU  - Gemović, Branislava
AU  - Klaassen, Kristel
AU  - Perović, Vladimir
AU  - Lazarević, Mladen
AU  - Pavlović, Sonja
AU  - Veljković, Nevena
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1502
AB  - The complete understanding of the genomic contribution to complex traits, diseases, and response to treatments, as well as genomic medicine application to the well-being of all humans will be achieved through the global variome that encompasses fine-scale genetic diversity. Despite significant efforts in recent years, uneven representation still characterizes genomic resources and among the underrepresented European populations are the Western Balkans including the Serbian population. Our research addresses this gap and presents the first ever targeted sequencing dataset of variants in clinically relevant genes. By measuring population differentiation and applying the Principal Component and Admixture analysis we demonstrated that the Serbian population differs little from other European populations, yet we identified several novel and more frequent variants that appear as its unique genetic determinants. We explored thoroughly the functional impact of frequent variants and its correlation with the health burden of the population of Serbia based on a sample of 144 individuals. Our variants catalogue improves the understanding of genetics of modern Serbia, contributes to research on ancestry, and aids in improvements of well-being and health equity. In addition, this resource may also be applicable in neighboring regions and valuable in worldwide functional analyses of genetic variants in individuals of European descent.
PB  - Nature Portfolio, Berlin
T2  - Scientific Reports
T1  - The first insight into the genetic structure of the population of modern Serbia
IS  - 1
VL  - 11
DO  - 10.1038/s41598-021-93129-4
ER  - 

@article{
author = "Drljaca, Tamara and Zukić, Branka and Kovacević, Vladimir and Gemović, Branislava and Klaassen, Kristel and Perović, Vladimir and Lazarević, Mladen and Pavlović, Sonja and Veljković, Nevena",
year = "2021",
abstract = "The complete understanding of the genomic contribution to complex traits, diseases, and response to treatments, as well as genomic medicine application to the well-being of all humans will be achieved through the global variome that encompasses fine-scale genetic diversity. Despite significant efforts in recent years, uneven representation still characterizes genomic resources and among the underrepresented European populations are the Western Balkans including the Serbian population. Our research addresses this gap and presents the first ever targeted sequencing dataset of variants in clinically relevant genes. By measuring population differentiation and applying the Principal Component and Admixture analysis we demonstrated that the Serbian population differs little from other European populations, yet we identified several novel and more frequent variants that appear as its unique genetic determinants. We explored thoroughly the functional impact of frequent variants and its correlation with the health burden of the population of Serbia based on a sample of 144 individuals. Our variants catalogue improves the understanding of genetics of modern Serbia, contributes to research on ancestry, and aids in improvements of well-being and health equity. In addition, this resource may also be applicable in neighboring regions and valuable in worldwide functional analyses of genetic variants in individuals of European descent.",
publisher = "Nature Portfolio, Berlin",
journal = "Scientific Reports",
title = "The first insight into the genetic structure of the population of modern Serbia",
number = "1",
volume = "11",
doi = "10.1038/s41598-021-93129-4"
}

Drljaca, T., Zukić, B., Kovacević, V., Gemović, B., Klaassen, K., Perović, V., Lazarević, M., Pavlović, S.,& Veljković, N.. (2021). The first insight into the genetic structure of the population of modern Serbia. in Scientific Reports
Nature Portfolio, Berlin., 11(1).
https://doi.org/10.1038/s41598-021-93129-4

Drljaca T, Zukić B, Kovacević V, Gemović B, Klaassen K, Perović V, Lazarević M, Pavlović S, Veljković N. The first insight into the genetic structure of the population of modern Serbia. in Scientific Reports. 2021;11(1).
doi:10.1038/s41598-021-93129-4 .

Drljaca, Tamara, Zukić, Branka, Kovacević, Vladimir, Gemović, Branislava, Klaassen, Kristel, Perović, Vladimir, Lazarević, Mladen, Pavlović, Sonja, Veljković, Nevena, "The first insight into the genetic structure of the population of modern Serbia" in Scientific Reports, 11, no. 1 (2021),
https://doi.org/10.1038/s41598-021-93129-4 . .

TY  - JOUR
AU  - Kotur, Nikola
AU  - Skakić, Anita
AU  - Klaassen, Kristel
AU  - Gašić, Vladimir
AU  - Zukić, Branka
AU  - Skodrić-Trifunović, Vesna
AU  - Stjepanović, Mihailo
AU  - Zivković, Zorica
AU  - Ostojić, Olivera
AU  - Stevanović, Goran
AU  - Lavadinović, Lidija
AU  - Pavlović, Sonja
AU  - Stanković, Biljana
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1439
AB  - Background: COVID-19 pandemic has proved to be an unrelenting health threat for more than a year now. The emerging amount of data indicates that vitamin D, zinc and selenium could be important for clinical presentation of COVID-19. Here, we investigated association of genetic variants related to the altered level and bioavailability of vitamin D, zinc and selenium with clinical severity of COVID-19. Methods: We analyzed variants in genes significant for the status of vitamin D (DHCR7/NADSYN1 rs12785878, GC rs2282679, CYP2R1 rs10741657, and VDR rs2228570), zinc (PPCDC rs2120019) and selenium (DMGDH rs17823744) in 120 Serbian adult and pediatric COVID-19 patients using allelic discrimination. Furthermore, we carried out comparative population genetic analysis among European and other worldwide populations to investigate variation in allelic frequencies of selected variants. Results: Study showed that DHCR7/NADSYN rs12785878 and CYP2R1 rs10741657 variants were associated with severe COVID-19 in adults (p = 0.03, p = 0.017, respectively); carriers of DHCR7/NADSYN TG+GG and CYP2R1 GG genotypes had 0.21 and 5.9 the odds for developing severe disease, OR 0.21 (0.05-0.9) and OR 5.9 (1.4-25.2), respectively. There were no associations between selected genetic variants and disease severity in pediatric patients. Comparative population genetic analysis revealed that Serbian population had the lowest frequency of CYP2R1 rs10741657 G allele compared to other non-Finish Europeans (0.58 compared to 0.69 and 0.66 in Spanish and Italian population, respectively), suggesting that other populations should also investigate the relationship of CYP2R1 variant and the COVID-19 disease course. Conclusion: The results of the study indicated that vitamin D related genetic variants were implicated in severe COVID-19 in adults. This could direct prevention strategies based on population specific nutrigenetic profiles.
PB  - Frontiers Media Sa, Lausanne
T2  - Frontiers in Nutrition
T1  - Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity
VL  - 8
DO  - 10.3389/fnut.2021.689419
ER  - 

@article{
author = "Kotur, Nikola and Skakić, Anita and Klaassen, Kristel and Gašić, Vladimir and Zukić, Branka and Skodrić-Trifunović, Vesna and Stjepanović, Mihailo and Zivković, Zorica and Ostojić, Olivera and Stevanović, Goran and Lavadinović, Lidija and Pavlović, Sonja and Stanković, Biljana",
year = "2021",
abstract = "Background: COVID-19 pandemic has proved to be an unrelenting health threat for more than a year now. The emerging amount of data indicates that vitamin D, zinc and selenium could be important for clinical presentation of COVID-19. Here, we investigated association of genetic variants related to the altered level and bioavailability of vitamin D, zinc and selenium with clinical severity of COVID-19. Methods: We analyzed variants in genes significant for the status of vitamin D (DHCR7/NADSYN1 rs12785878, GC rs2282679, CYP2R1 rs10741657, and VDR rs2228570), zinc (PPCDC rs2120019) and selenium (DMGDH rs17823744) in 120 Serbian adult and pediatric COVID-19 patients using allelic discrimination. Furthermore, we carried out comparative population genetic analysis among European and other worldwide populations to investigate variation in allelic frequencies of selected variants. Results: Study showed that DHCR7/NADSYN rs12785878 and CYP2R1 rs10741657 variants were associated with severe COVID-19 in adults (p = 0.03, p = 0.017, respectively); carriers of DHCR7/NADSYN TG+GG and CYP2R1 GG genotypes had 0.21 and 5.9 the odds for developing severe disease, OR 0.21 (0.05-0.9) and OR 5.9 (1.4-25.2), respectively. There were no associations between selected genetic variants and disease severity in pediatric patients. Comparative population genetic analysis revealed that Serbian population had the lowest frequency of CYP2R1 rs10741657 G allele compared to other non-Finish Europeans (0.58 compared to 0.69 and 0.66 in Spanish and Italian population, respectively), suggesting that other populations should also investigate the relationship of CYP2R1 variant and the COVID-19 disease course. Conclusion: The results of the study indicated that vitamin D related genetic variants were implicated in severe COVID-19 in adults. This could direct prevention strategies based on population specific nutrigenetic profiles.",
publisher = "Frontiers Media Sa, Lausanne",
journal = "Frontiers in Nutrition",
title = "Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity",
volume = "8",
doi = "10.3389/fnut.2021.689419"
}

Kotur, N., Skakić, A., Klaassen, K., Gašić, V., Zukić, B., Skodrić-Trifunović, V., Stjepanović, M., Zivković, Z., Ostojić, O., Stevanović, G., Lavadinović, L., Pavlović, S.,& Stanković, B.. (2021). Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity. in Frontiers in Nutrition
Frontiers Media Sa, Lausanne., 8.
https://doi.org/10.3389/fnut.2021.689419

Kotur N, Skakić A, Klaassen K, Gašić V, Zukić B, Skodrić-Trifunović V, Stjepanović M, Zivković Z, Ostojić O, Stevanović G, Lavadinović L, Pavlović S, Stanković B. Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity. in Frontiers in Nutrition. 2021;8.
doi:10.3389/fnut.2021.689419 .

Kotur, Nikola, Skakić, Anita, Klaassen, Kristel, Gašić, Vladimir, Zukić, Branka, Skodrić-Trifunović, Vesna, Stjepanović, Mihailo, Zivković, Zorica, Ostojić, Olivera, Stevanović, Goran, Lavadinović, Lidija, Pavlović, Sonja, Stanković, Biljana, "Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity" in Frontiers in Nutrition, 8 (2021),
https://doi.org/10.3389/fnut.2021.689419 . .

TY  - CHAP
AU  - Zukić, Branka
AU  - Stanković, Biljana
AU  - Kotur, Nikola
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1653
AB  - Novi koronavirus SARS-CoV-2, uzročnik upale pluća, sposoban je da zarazi ljude i izazove novu bolest COVID- 19 koja je preopteretila zdravstvene sisteme širom planete i izazvala globalnu ekonomsku krizu. Klinička slika i tok bolesti kod pacijenata obolelih od COVID-19 varira od asimptomatske do letalnog ishoda. Kako se radi o istom uzročniku bolesti, individualni genomski profil pacijenta krije odgovor na pitanje medicinske nauke o uzroku ovog fenomena. U radu su sumirana dosadašnja znanja o genetičkim markerima koji su odgovorni za široki spektar kliničkih slika, kao i da li se već može primeniti individualizovan pristup lečenju. Prikazane su dosada istraživane varijante u genima (sa osvrtom na populacione specifičnosti) odgovorne za predispoziciju i odgovor na SARS-CoV-2 virusnu infekciju, farmakogenetičke varijante od značaja za lekove koji se koriste u lečenju pacijenata obolelih od COVID-19, kao i nutrigenetički markeri u genima važnim za metabolizam mikronutrijenata, vitamina D, selena i cinka, koji se takođe koriste u terapiji pacijenata sa COVID-19. Udruženi napor istraživača, multidisciplinarni pristup, dostupnost modernih tehnologija koje imaju kapacitet analize celokupnih genoma, buduće sveobuhvatnije studije sa dobro okarakterisanim grupama pacijenata, kao i razvoj robusnijih bioinformatičkih alata koji koriste mašinsko učenje i napredne statističke metode, omogućiće identifikaciju novih genetičkih markera čoveka povezanih sa COVID-19, bolje razumevanje same patofiziologije bolesti, razvoj prave ciljane terapije kao i istaći značaj nutrigenomike i farmakogenomike za primenu personalizovane medicine u lečenju COVID-19.
AB  - The new cause of pneumonia, coronavirus SARS-CoV-2, capable of infecting people and causing the new disease
COVID-19, overloaded health systems around the planet and caused a global economic crisis. The clinical
presentation and the course of the disease in COVID-19 patients vary from asymptomatic to lethal. As it
is the same cause of the disease, the individual genomic profile of the patient reveals the answer to the
question of medical science about the cause of this phenomenon. The paper summarizes the current knowledge
about genetic markers responsible for a wide range of clinical pictures, as well as whether an individualized
approach to treatment can already be applied. The variants identified so far in genes (with reference
to population specifics) responsible for predisposition and response to SARS-CoV-2 viral infection, pharmacogenetic
variants of importance for drugs used in the treatment of patients with COVID-19, as well as nutrigenetic
markers in genes important for the metabolism of the micronutrients, vitamin D, selenium and
zinc, also used in the therapy of patients with COVID-19, are presented. The combined effort of researchers,
a multidisciplinary approach, the availability of modern technologies that have the capacity to analyze entire
genomes, future more comprehensive studies with well-characterized patient groups, and the development
of more robust bioinformatics tools using machine learning and advanced statistical methods will
enable the identification of novel human genetic markers associated with COVID -19, better understanding
of the pathophysiology of the disease, development of the proper targeted therapy as well as point out the
importance of nutrigenomics and pharmacogenomics for the application of personalized medicine in the
treatment of COVID-19.
PB  - Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo
T2  - Trendovi u molekularnoj Biologiji
T1  - Personalizovana medicina i COVID-19: značaj genomskog profilisanja pacijenata i bioinformatike
T1  - Personalized medicine and COVID-19: the importance of genomic host profiling and bioinformatics
EP  - 20
IS  - 1
SP  - 6
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1653
ER  - 

@inbook{
author = "Zukić, Branka and Stanković, Biljana and Kotur, Nikola",
year = "2021",
abstract = "Novi koronavirus SARS-CoV-2, uzročnik upale pluća, sposoban je da zarazi ljude i izazove novu bolest COVID- 19 koja je preopteretila zdravstvene sisteme širom planete i izazvala globalnu ekonomsku krizu. Klinička slika i tok bolesti kod pacijenata obolelih od COVID-19 varira od asimptomatske do letalnog ishoda. Kako se radi o istom uzročniku bolesti, individualni genomski profil pacijenta krije odgovor na pitanje medicinske nauke o uzroku ovog fenomena. U radu su sumirana dosadašnja znanja o genetičkim markerima koji su odgovorni za široki spektar kliničkih slika, kao i da li se već može primeniti individualizovan pristup lečenju. Prikazane su dosada istraživane varijante u genima (sa osvrtom na populacione specifičnosti) odgovorne za predispoziciju i odgovor na SARS-CoV-2 virusnu infekciju, farmakogenetičke varijante od značaja za lekove koji se koriste u lečenju pacijenata obolelih od COVID-19, kao i nutrigenetički markeri u genima važnim za metabolizam mikronutrijenata, vitamina D, selena i cinka, koji se takođe koriste u terapiji pacijenata sa COVID-19. Udruženi napor istraživača, multidisciplinarni pristup, dostupnost modernih tehnologija koje imaju kapacitet analize celokupnih genoma, buduće sveobuhvatnije studije sa dobro okarakterisanim grupama pacijenata, kao i razvoj robusnijih bioinformatičkih alata koji koriste mašinsko učenje i napredne statističke metode, omogućiće identifikaciju novih genetičkih markera čoveka povezanih sa COVID-19, bolje razumevanje same patofiziologije bolesti, razvoj prave ciljane terapije kao i istaći značaj nutrigenomike i farmakogenomike za primenu personalizovane medicine u lečenju COVID-19., The new cause of pneumonia, coronavirus SARS-CoV-2, capable of infecting people and causing the new disease
COVID-19, overloaded health systems around the planet and caused a global economic crisis. The clinical
presentation and the course of the disease in COVID-19 patients vary from asymptomatic to lethal. As it
is the same cause of the disease, the individual genomic profile of the patient reveals the answer to the
question of medical science about the cause of this phenomenon. The paper summarizes the current knowledge
about genetic markers responsible for a wide range of clinical pictures, as well as whether an individualized
approach to treatment can already be applied. The variants identified so far in genes (with reference
to population specifics) responsible for predisposition and response to SARS-CoV-2 viral infection, pharmacogenetic
variants of importance for drugs used in the treatment of patients with COVID-19, as well as nutrigenetic
markers in genes important for the metabolism of the micronutrients, vitamin D, selenium and
zinc, also used in the therapy of patients with COVID-19, are presented. The combined effort of researchers,
a multidisciplinary approach, the availability of modern technologies that have the capacity to analyze entire
genomes, future more comprehensive studies with well-characterized patient groups, and the development
of more robust bioinformatics tools using machine learning and advanced statistical methods will
enable the identification of novel human genetic markers associated with COVID -19, better understanding
of the pathophysiology of the disease, development of the proper targeted therapy as well as point out the
importance of nutrigenomics and pharmacogenomics for the application of personalized medicine in the
treatment of COVID-19.",
publisher = "Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo",
journal = "Trendovi u molekularnoj Biologiji",
booktitle = "Personalizovana medicina i COVID-19: značaj genomskog profilisanja pacijenata i bioinformatike, Personalized medicine and COVID-19: the importance of genomic host profiling and bioinformatics",
pages = "20-6",
number = "1",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1653"
}

Zukić, B., Stanković, B.,& Kotur, N.. (2021). Personalizovana medicina i COVID-19: značaj genomskog profilisanja pacijenata i bioinformatike. in Trendovi u molekularnoj Biologiji
Beograd : Institut za molekularnu genetiku i genetičko inženjerstvo.(1), 6-20.
https://hdl.handle.net/21.15107/rcub_imagine_1653

Zukić B, Stanković B, Kotur N. Personalizovana medicina i COVID-19: značaj genomskog profilisanja pacijenata i bioinformatike. in Trendovi u molekularnoj Biologiji. 2021;(1):6-20.
https://hdl.handle.net/21.15107/rcub_imagine_1653 .

Zukić, Branka, Stanković, Biljana, Kotur, Nikola, "Personalizovana medicina i COVID-19: značaj genomskog profilisanja pacijenata i bioinformatike" in Trendovi u molekularnoj Biologiji, no. 1 (2021):6-20,
https://hdl.handle.net/21.15107/rcub_imagine_1653 .

TY  - JOUR
AU  - Stanković, Biljana
AU  - Kotur, Nikola
AU  - Nikčević, Gordana
AU  - Gašić, Vladimir
AU  - Zukić, Branka
AU  - Pavlović, Sonja
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1460
AB  - Research of inflammatory bowel disease (IBD) has identified numerous molecular players involved in the disease development. Even so, the understanding of IBD is incomplete, while disease treatment is still far from the precision medicine. Reliable diagnostic and prognostic biomarkers in IBD are limited which may reduce efficient therapeutic outcomes. High-throughput technologies and artificial intelligence emerged as powerful tools in search of unrevealed molecular patterns that could give important insights into IBD pathogenesis and help to address unmet clinical needs. Machine learning, a subtype of artificial intelligence, uses complex mathematical algorithms to learn from existing data in order to predict future outcomes. The scientific community has been increasingly employing machine learning for the prediction of IBD outcomes from comprehensive patient data-clinical records, genomic, transcriptomic, proteomic, metagenomic, and other IBD relevant omics data. This review aims to present fundamental principles behind machine learning modeling and its current application in IBD research with the focus on studies that explored genomic and transcriptomic data. We described different strategies used for dealing with omics data and outlined the best-performing methods. Before being translated into clinical settings, the developed machine learning models should be tested in independent prospective studies as well as randomized controlled trials.
PB  - MDPI, Basel
T2  - Genes
T1  - Machine Learning Modeling from Omics Data as Prospective Tool for Improvement of Inflammatory Bowel Disease Diagnosis and Clinical Classifications
IS  - 9
VL  - 12
DO  - 10.3390/genes12091438
ER  - 

@article{
author = "Stanković, Biljana and Kotur, Nikola and Nikčević, Gordana and Gašić, Vladimir and Zukić, Branka and Pavlović, Sonja",
year = "2021",
abstract = "Research of inflammatory bowel disease (IBD) has identified numerous molecular players involved in the disease development. Even so, the understanding of IBD is incomplete, while disease treatment is still far from the precision medicine. Reliable diagnostic and prognostic biomarkers in IBD are limited which may reduce efficient therapeutic outcomes. High-throughput technologies and artificial intelligence emerged as powerful tools in search of unrevealed molecular patterns that could give important insights into IBD pathogenesis and help to address unmet clinical needs. Machine learning, a subtype of artificial intelligence, uses complex mathematical algorithms to learn from existing data in order to predict future outcomes. The scientific community has been increasingly employing machine learning for the prediction of IBD outcomes from comprehensive patient data-clinical records, genomic, transcriptomic, proteomic, metagenomic, and other IBD relevant omics data. This review aims to present fundamental principles behind machine learning modeling and its current application in IBD research with the focus on studies that explored genomic and transcriptomic data. We described different strategies used for dealing with omics data and outlined the best-performing methods. Before being translated into clinical settings, the developed machine learning models should be tested in independent prospective studies as well as randomized controlled trials.",
publisher = "MDPI, Basel",
journal = "Genes",
title = "Machine Learning Modeling from Omics Data as Prospective Tool for Improvement of Inflammatory Bowel Disease Diagnosis and Clinical Classifications",
number = "9",
volume = "12",
doi = "10.3390/genes12091438"
}

Stanković, B., Kotur, N., Nikčević, G., Gašić, V., Zukić, B.,& Pavlović, S.. (2021). Machine Learning Modeling from Omics Data as Prospective Tool for Improvement of Inflammatory Bowel Disease Diagnosis and Clinical Classifications. in Genes
MDPI, Basel., 12(9).
https://doi.org/10.3390/genes12091438

Stanković B, Kotur N, Nikčević G, Gašić V, Zukić B, Pavlović S. Machine Learning Modeling from Omics Data as Prospective Tool for Improvement of Inflammatory Bowel Disease Diagnosis and Clinical Classifications. in Genes. 2021;12(9).
doi:10.3390/genes12091438 .

Stanković, Biljana, Kotur, Nikola, Nikčević, Gordana, Gašić, Vladimir, Zukić, Branka, Pavlović, Sonja, "Machine Learning Modeling from Omics Data as Prospective Tool for Improvement of Inflammatory Bowel Disease Diagnosis and Clinical Classifications" in Genes, 12, no. 9 (2021),
https://doi.org/10.3390/genes12091438 . .