TY  - JOUR
AU  - Tomić Vujović, Kristina
AU  - Ugrin, Milena
AU  - Tošić, Nataša
AU  - Vuković, Vojin
AU  - Marjanović, Irena
AU  - Kostić, Tatjana
AU  - Stanković, Sanja
AU  - Otasević, Vladimir
AU  - Sarać, Sofija
AU  - Antić, Darko
AU  - Pavlović, Sonja
AU  - Karan-Đurasević, Teodora
PY  - 2024
UR  - https://www.mdpi.com/1422-0067/25/2/922
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2318
AB  - Dysregulated expression of the long non-coding RNA MALAT1 has been implicated in the pathogenesis and progression of a variety of cancers, including hematological malignancies, but it has been poorly investigated in chronic lymphocytic leukemia (CLL). In this study, the expression of MALAT1 was measured using a quantitative reverse-transcriptase polymerase chain reaction in the peripheral blood mononuclear cells of 114 unselected, newly diagnosed CLL patients in order to analyze its association with clinical, laboratory, and molecular patients’ characteristics at diagnosis, as well as its prognostic relevance. MALAT1 was found to be upregulated in CLL patients in comparison to healthy controls, and expression levels were not related to age, leukocyte, lymphocyte and platelet count, serum β2-microglobulin, and IGHV somatic hypermutational status. On the other hand, high MALAT1 expression was associated with several favorable prognostic markers (high hemoglobin, low serum lactate dehydrogenase, earlier clinical stages, CD38-negative status), but also with unfavorable cytogenetics. Furthermore, an association between high MALAT1 levels and longer time to first treatment and overall survival in IGHV-unmutated CLL subtype was observed. In summary, our results imply that high MALAT1 expression at diagnosis may be a predictor of better prognosis and point to MALAT1 expression profiling as a candidate biomarker potentially useful in clinical practice.
PB  - MDPI
T2  - International Journal of Molecular Sciences
T1  - Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia
IS  - 2
SP  - 922
VL  - 25
DO  - 10.3390/ijms25020922
ER  - 

@article{
author = "Tomić Vujović, Kristina and Ugrin, Milena and Tošić, Nataša and Vuković, Vojin and Marjanović, Irena and Kostić, Tatjana and Stanković, Sanja and Otasević, Vladimir and Sarać, Sofija and Antić, Darko and Pavlović, Sonja and Karan-Đurasević, Teodora",
year = "2024",
abstract = "Dysregulated expression of the long non-coding RNA MALAT1 has been implicated in the pathogenesis and progression of a variety of cancers, including hematological malignancies, but it has been poorly investigated in chronic lymphocytic leukemia (CLL). In this study, the expression of MALAT1 was measured using a quantitative reverse-transcriptase polymerase chain reaction in the peripheral blood mononuclear cells of 114 unselected, newly diagnosed CLL patients in order to analyze its association with clinical, laboratory, and molecular patients’ characteristics at diagnosis, as well as its prognostic relevance. MALAT1 was found to be upregulated in CLL patients in comparison to healthy controls, and expression levels were not related to age, leukocyte, lymphocyte and platelet count, serum β2-microglobulin, and IGHV somatic hypermutational status. On the other hand, high MALAT1 expression was associated with several favorable prognostic markers (high hemoglobin, low serum lactate dehydrogenase, earlier clinical stages, CD38-negative status), but also with unfavorable cytogenetics. Furthermore, an association between high MALAT1 levels and longer time to first treatment and overall survival in IGHV-unmutated CLL subtype was observed. In summary, our results imply that high MALAT1 expression at diagnosis may be a predictor of better prognosis and point to MALAT1 expression profiling as a candidate biomarker potentially useful in clinical practice.",
publisher = "MDPI",
journal = "International Journal of Molecular Sciences",
title = "Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia",
number = "2",
pages = "922",
volume = "25",
doi = "10.3390/ijms25020922"
}

Tomić Vujović, K., Ugrin, M., Tošić, N., Vuković, V., Marjanović, I., Kostić, T., Stanković, S., Otasević, V., Sarać, S., Antić, D., Pavlović, S.,& Karan-Đurasević, T.. (2024). Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia. in International Journal of Molecular Sciences
MDPI., 25(2), 922.
https://doi.org/10.3390/ijms25020922

Tomić Vujović K, Ugrin M, Tošić N, Vuković V, Marjanović I, Kostić T, Stanković S, Otasević V, Sarać S, Antić D, Pavlović S, Karan-Đurasević T. Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia. in International Journal of Molecular Sciences. 2024;25(2):922.
doi:10.3390/ijms25020922 .

Tomić Vujović, Kristina, Ugrin, Milena, Tošić, Nataša, Vuković, Vojin, Marjanović, Irena, Kostić, Tatjana, Stanković, Sanja, Otasević, Vladimir, Sarać, Sofija, Antić, Darko, Pavlović, Sonja, Karan-Đurasević, Teodora, "Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia" in International Journal of Molecular Sciences, 25, no. 2 (2024):922,
https://doi.org/10.3390/ijms25020922 . .

TY  - JOUR
AU  - Tomić Vujović, Kristina
AU  - Ugrin, Milena
AU  - Tošić, Nataša
AU  - Vuković, Vojin
AU  - Marjanović, Irena
AU  - Kostić, Tatjana
AU  - Stanković, Sanja
AU  - Otašević, Vladimir
AU  - Šarac, Sofija
AU  - Antić, Darko
AU  - Pavlović, Sonja
AU  - Karan-Đurašević, Teodora
PY  - 2024
UR  - https://www.mdpi.com/1422-0067/25/2/922
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2310
AB  - Dysregulated expression of the long non-coding RNA MALAT1 has been implicated in the pathogenesis and progression of a variety of cancers, including hematological malignancies, but it has been poorly investigated in chronic lymphocytic leukemia (CLL). In this study, the expression of MALAT1 was measured using a quantitative reverse-transcriptase polymerase chain reaction in the peripheral blood mononuclear cells of 114 unselected, newly diagnosed CLL patients in order to analyze its association with clinical, laboratory, and molecular patients’ characteristics at diagnosis, as well as its prognostic relevance. MALAT1 was found to be upregulated in CLL patients in comparison to healthy controls, and expression levels were not related to age, leukocyte, lymphocyte and platelet count, serum β2-microglobulin, and IGHV somatic hypermutational status. On the other hand, high MALAT1 expression was associated with several favorable prognostic markers (high hemoglobin, low serum lactate dehydrogenase, earlier clinical stages, CD38-negative status), but also with unfavorable cytogenetics. Furthermore, an association between high MALAT1 levels and longer time to first treatment and overall survival in IGHV-unmutated CLL subtype was observed. In summary, our results imply that high MALAT1 expression at diagnosis may be a predictor of better prognosis and point to MALAT1 expression profiling as a candidate biomarker potentially useful in clinical practice.
PB  - MDPI
T2  - International Journal of Molecular Sciences
T2  - International Journal of Molecular Sciences
T1  - Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia
IS  - 2
SP  - 922
VL  - 25
DO  - 10.3390/ijms25020922
ER  - 

@article{
author = "Tomić Vujović, Kristina and Ugrin, Milena and Tošić, Nataša and Vuković, Vojin and Marjanović, Irena and Kostić, Tatjana and Stanković, Sanja and Otašević, Vladimir and Šarac, Sofija and Antić, Darko and Pavlović, Sonja and Karan-Đurašević, Teodora",
year = "2024",
abstract = "Dysregulated expression of the long non-coding RNA MALAT1 has been implicated in the pathogenesis and progression of a variety of cancers, including hematological malignancies, but it has been poorly investigated in chronic lymphocytic leukemia (CLL). In this study, the expression of MALAT1 was measured using a quantitative reverse-transcriptase polymerase chain reaction in the peripheral blood mononuclear cells of 114 unselected, newly diagnosed CLL patients in order to analyze its association with clinical, laboratory, and molecular patients’ characteristics at diagnosis, as well as its prognostic relevance. MALAT1 was found to be upregulated in CLL patients in comparison to healthy controls, and expression levels were not related to age, leukocyte, lymphocyte and platelet count, serum β2-microglobulin, and IGHV somatic hypermutational status. On the other hand, high MALAT1 expression was associated with several favorable prognostic markers (high hemoglobin, low serum lactate dehydrogenase, earlier clinical stages, CD38-negative status), but also with unfavorable cytogenetics. Furthermore, an association between high MALAT1 levels and longer time to first treatment and overall survival in IGHV-unmutated CLL subtype was observed. In summary, our results imply that high MALAT1 expression at diagnosis may be a predictor of better prognosis and point to MALAT1 expression profiling as a candidate biomarker potentially useful in clinical practice.",
publisher = "MDPI",
journal = "International Journal of Molecular Sciences, International Journal of Molecular Sciences",
title = "Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia",
number = "2",
pages = "922",
volume = "25",
doi = "10.3390/ijms25020922"
}

Tomić Vujović, K., Ugrin, M., Tošić, N., Vuković, V., Marjanović, I., Kostić, T., Stanković, S., Otašević, V., Šarac, S., Antić, D., Pavlović, S.,& Karan-Đurašević, T.. (2024). Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia. in International Journal of Molecular Sciences
MDPI., 25(2), 922.
https://doi.org/10.3390/ijms25020922

Tomić Vujović K, Ugrin M, Tošić N, Vuković V, Marjanović I, Kostić T, Stanković S, Otašević V, Šarac S, Antić D, Pavlović S, Karan-Đurašević T. Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia. in International Journal of Molecular Sciences. 2024;25(2):922.
doi:10.3390/ijms25020922 .

Tomić Vujović, Kristina, Ugrin, Milena, Tošić, Nataša, Vuković, Vojin, Marjanović, Irena, Kostić, Tatjana, Stanković, Sanja, Otašević, Vladimir, Šarac, Sofija, Antić, Darko, Pavlović, Sonja, Karan-Đurašević, Teodora, "Expression Pattern and Prognostic Significance of the Long Non-Coding RNA Metastasis-Associated Lung Adenocarcinoma Transcript 1 in Chronic Lymphocytic Leukemia" in International Journal of Molecular Sciences, 25, no. 2 (2024):922,
https://doi.org/10.3390/ijms25020922 . .

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  - Gašić, Vladimir
AU  - Pravdić, Zlatko
AU  - Suvajdžić Vuković, Nada
AU  - Marjanović, Irena
AU  - Karan-Đurašević, Teodora
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1899
AB  - Acute myeloid leukemia (AML) is a malignancy of hematopoetic tissue which occurs due to a halt in
differentiation, loss of proliferation control and dysregulated apoptosis of myeloid progenitor cells. In
many cancers, as well as AML, dysregulation of apoptosis constitutes the basis of pathogenesis and this
phenomenon is important for chemotherapy success. Pharmacotranscriptomic markers of AML
prognosis could be targets of specific therapy. The anti-apoptotic gene BCL2 (B-cell lymphoma protein
2), the pro-apoptotic BAX (BCL2-associated X) and genes involved in drug resistance, like MDR1
could have a significant impact on AML prognosis and therapy response. Bone-marrow samples at
diagnosis were collected from 51 adult patients with AML-NK. Expressions of BCL2, BAX and MDR1
were analysed using the real-time polymerase chain reaction method. Statistical evaluation was
performed. The presence of chemoresistance was found to be associated with overexpression of BCL2
(BCL2+) (p=0.018), while underexpression of BAX in patients has shown a greater affinity towards
relapse (p=0.034). Evaluating the expressions of BCL2 and BAX in a combined effect has shown that
87% of patients with BAX/BCL2low status were resistant to therapy (p=0.024). BCL2+ status was
associated with high expression of MDR1 (p<0.001). Likewise, high expression of MDR1 was
associated with the absence of NPM1 and FLT3-ITD mutations (p=0.048 and p=0.010, respectively).
This is the first study that focused only on AML-NK patients, when it comes to analysis of BCL2, BAX
and MDR1 gene expression profiles. The results of this preliminary study have shown that high BCL2
expression would likely lead to resistance from chemotherapy, making anti-BCL2 treatment a viable
option in patients with this expression profile. A study on a larger group of patients could clarify the
prognostic importance of the studied genes in adult AML-NK patients and improve the precision
medicine approach in the field of hematology.
PB  - Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo
C3  - Genetics & Applications
T1  - Expression levels of BCL2, BAX and MDR1 as pharmacotranscriptomic and prognostic markers of prognosis in acute myeloid leukemia
VL  - 7
VL  - 2 (Special edition)
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1899
ER  - 

@conference{
author = "Gašić, Vladimir and Pravdić, Zlatko and Suvajdžić Vuković, Nada and Marjanović, Irena and Karan-Đurašević, Teodora and Pavlović, Sonja and Tošić, Nataša",
year = "2023",
abstract = "Acute myeloid leukemia (AML) is a malignancy of hematopoetic tissue which occurs due to a halt in
differentiation, loss of proliferation control and dysregulated apoptosis of myeloid progenitor cells. In
many cancers, as well as AML, dysregulation of apoptosis constitutes the basis of pathogenesis and this
phenomenon is important for chemotherapy success. Pharmacotranscriptomic markers of AML
prognosis could be targets of specific therapy. The anti-apoptotic gene BCL2 (B-cell lymphoma protein
2), the pro-apoptotic BAX (BCL2-associated X) and genes involved in drug resistance, like MDR1
could have a significant impact on AML prognosis and therapy response. Bone-marrow samples at
diagnosis were collected from 51 adult patients with AML-NK. Expressions of BCL2, BAX and MDR1
were analysed using the real-time polymerase chain reaction method. Statistical evaluation was
performed. The presence of chemoresistance was found to be associated with overexpression of BCL2
(BCL2+) (p=0.018), while underexpression of BAX in patients has shown a greater affinity towards
relapse (p=0.034). Evaluating the expressions of BCL2 and BAX in a combined effect has shown that
87% of patients with BAX/BCL2low status were resistant to therapy (p=0.024). BCL2+ status was
associated with high expression of MDR1 (p<0.001). Likewise, high expression of MDR1 was
associated with the absence of NPM1 and FLT3-ITD mutations (p=0.048 and p=0.010, respectively).
This is the first study that focused only on AML-NK patients, when it comes to analysis of BCL2, BAX
and MDR1 gene expression profiles. The results of this preliminary study have shown that high BCL2
expression would likely lead to resistance from chemotherapy, making anti-BCL2 treatment a viable
option in patients with this expression profile. A study on a larger group of patients could clarify the
prognostic importance of the studied genes in adult AML-NK patients and improve the precision
medicine approach in the field of hematology.",
publisher = "Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo",
journal = "Genetics & Applications",
title = "Expression levels of BCL2, BAX and MDR1 as pharmacotranscriptomic and prognostic markers of prognosis in acute myeloid leukemia",
volume = "7, 2 (Special edition)",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1899"
}

Gašić, V., Pravdić, Z., Suvajdžić Vuković, N., Marjanović, I., Karan-Đurašević, T., Pavlović, S.,& Tošić, N.. (2023). Expression levels of BCL2, BAX and MDR1 as pharmacotranscriptomic and prognostic markers of prognosis in acute myeloid leukemia. in Genetics & Applications
Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo., 7.
https://hdl.handle.net/21.15107/rcub_imagine_1899

Gašić V, Pravdić Z, Suvajdžić Vuković N, Marjanović I, Karan-Đurašević T, Pavlović S, Tošić N. Expression levels of BCL2, BAX and MDR1 as pharmacotranscriptomic and prognostic markers of prognosis in acute myeloid leukemia. in Genetics & Applications. 2023;7.
https://hdl.handle.net/21.15107/rcub_imagine_1899 .

Gašić, Vladimir, Pravdić, Zlatko, Suvajdžić Vuković, Nada, Marjanović, Irena, Karan-Đurašević, Teodora, Pavlović, Sonja, Tošić, Nataša, "Expression levels of BCL2, BAX and MDR1 as pharmacotranscriptomic and prognostic markers of prognosis in acute myeloid leukemia" in Genetics & Applications, 7 (2023),
https://hdl.handle.net/21.15107/rcub_imagine_1899 .

TY  - CONF
AU  - Tošić, Nataša
AU  - Ugrin, Milena
AU  - Vuković, Vojin
AU  - Marjanović, Irena
AU  - Kostić, Tatjana
AU  - Antić, Darko
AU  - Stanković, Sanja
AU  - Otašević, Vladimir
AU  - Tomić, Kristina
AU  - Šarac, Sofija
AU  - Mihaljević, Biljana
AU  - Pavlović, Sonja
AU  - Karan-Đurašević, Teodora
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2118
AB  - Introduction: The long non-coding RNA (lncRNA) MALAT1 (metastasis-associated lung adenocarcinoma
transcript 1) dysregulated expression has been reported in a variety of cancers, but has been poorly investigated in chronic lymphocytic leukemia (CLL). The aim of thisstudy wasto investigate the expression
pattern of lncRNA MALAT1 in CLL, and evaluate its prognostic significance.
Methods: MALAT1 expression was analyzed in peripheral blood mononuclear cells of 114 newly-diagnosed CLL patients and 20 healthy controls by qRT-PCR, and association with clinical and biological features at diagnosis was assessed.
Results: MALAT1 was overexpressed in CLL compared to controlsamples(p<0.001). MALAT1 expression
was higher in male patients (p=0.003). It showed no correlation with age, leukocyte, lymphocyte and
platelet count, and serum β2-microglobulin, but exerted a positive correlation with hemoglobin level
(r=0.315, p=0.003) and a negative correlation with lactate dehydrogenase level (r=-0.303, p=0.004).
MALAT1 expression was higher in Binet A and B patients vs. Binet C patients (p=0.037). There was also a
trend toward higher MALAT1 expression in patients with favorable (del13q) and intermediate (normal
karyotype, trisomy12) cytogeneticsin comparison to patients with unfavorable (del11q and del17p) cytogenetics (p=0.059). In addition, high MALAT1 levels were associated with CD38-negative status
(p=0.017), but not with IGHV mutational status. While there was no association with the time to first
treatment, longer median overall survival in MALAT1 high- vs. MALAT1 low-expressing cases was observed (142 vs. 82 months, log rank p=0.032).
Conclusion: LncRNA MALAT1 is up-regulated in CLL. High MALAT1 expression at diagnosis may be associated with better prognosis.
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  - Prognostic significance of the long non-coding rna malat1 expression in chronic lymphocytic leukemia
EP  - 60
SP  - 60
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2118
ER  - 

@conference{
author = "Tošić, Nataša and Ugrin, Milena and Vuković, Vojin and Marjanović, Irena and Kostić, Tatjana and Antić, Darko and Stanković, Sanja and Otašević, Vladimir and Tomić, Kristina and Šarac, Sofija and Mihaljević, Biljana and Pavlović, Sonja and Karan-Đurašević, Teodora",
year = "2023",
abstract = "Introduction: The long non-coding RNA (lncRNA) MALAT1 (metastasis-associated lung adenocarcinoma
transcript 1) dysregulated expression has been reported in a variety of cancers, but has been poorly investigated in chronic lymphocytic leukemia (CLL). The aim of thisstudy wasto investigate the expression
pattern of lncRNA MALAT1 in CLL, and evaluate its prognostic significance.
Methods: MALAT1 expression was analyzed in peripheral blood mononuclear cells of 114 newly-diagnosed CLL patients and 20 healthy controls by qRT-PCR, and association with clinical and biological features at diagnosis was assessed.
Results: MALAT1 was overexpressed in CLL compared to controlsamples(p<0.001). MALAT1 expression
was higher in male patients (p=0.003). It showed no correlation with age, leukocyte, lymphocyte and
platelet count, and serum β2-microglobulin, but exerted a positive correlation with hemoglobin level
(r=0.315, p=0.003) and a negative correlation with lactate dehydrogenase level (r=-0.303, p=0.004).
MALAT1 expression was higher in Binet A and B patients vs. Binet C patients (p=0.037). There was also a
trend toward higher MALAT1 expression in patients with favorable (del13q) and intermediate (normal
karyotype, trisomy12) cytogeneticsin comparison to patients with unfavorable (del11q and del17p) cytogenetics (p=0.059). In addition, high MALAT1 levels were associated with CD38-negative status
(p=0.017), but not with IGHV mutational status. While there was no association with the time to first
treatment, longer median overall survival in MALAT1 high- vs. MALAT1 low-expressing cases was observed (142 vs. 82 months, log rank p=0.032).
Conclusion: LncRNA MALAT1 is up-regulated in CLL. High MALAT1 expression at diagnosis may be associated with better prognosis.",
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 = "Prognostic significance of the long non-coding rna malat1 expression in chronic lymphocytic leukemia",
pages = "60-60",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2118"
}

Tošić, N., Ugrin, M., Vuković, V., Marjanović, I., Kostić, T., Antić, D., Stanković, S., Otašević, V., Tomić, K., Šarac, S., Mihaljević, B., Pavlović, S.,& Karan-Đurašević, T.. (2023). Prognostic significance of the long non-coding rna malat1 expression in chronic lymphocytic leukemia. 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., 60-60.
https://hdl.handle.net/21.15107/rcub_imagine_2118

Tošić N, Ugrin M, Vuković V, Marjanović I, Kostić T, Antić D, Stanković S, Otašević V, Tomić K, Šarac S, Mihaljević B, Pavlović S, Karan-Đurašević T. Prognostic significance of the long non-coding rna malat1 expression in chronic lymphocytic leukemia. 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;:60-60.
https://hdl.handle.net/21.15107/rcub_imagine_2118 .

Tošić, Nataša, Ugrin, Milena, Vuković, Vojin, Marjanović, Irena, Kostić, Tatjana, Antić, Darko, Stanković, Sanja, Otašević, Vladimir, Tomić, Kristina, Šarac, Sofija, Mihaljević, Biljana, Pavlović, Sonja, Karan-Đurašević, Teodora, "Prognostic significance of the long non-coding rna malat1 expression in chronic lymphocytic leukemia" 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):60-60,
https://hdl.handle.net/21.15107/rcub_imagine_2118 .

TY  - JOUR
AU  - Denčić-Fekete, Marija
AU  - Terzić, Tatjana
AU  - Jaković, Ljubomir
AU  - Đurašinović, Vladislava
AU  - Karan-Đurašević, Teodora 
AU  - Radojković, Milica
AU  - Pavlović, Sonja
AU  - Bogdanović, Andrija
PY  - 2023
UR  - https://doiserbia.nb.rs/Article.aspx?ID=0042-84502200060D
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2191
AB  - Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon. Hyperdiploidy or near-tetraploidy (occurring in 1–3% of all CLL patients) usually confer a poor prognosis. Case report. We report a patient in a progressive phase of CLL with near–triploid karyotype. The prognosis of the disease was more precisely determined by applying the cytogenetic analysis of the karyotype and was complemented with molecular methods and pathohistological examination. The complex karyotype was accompanied by the TP53, C-MYC, and IGH gene disruptions, the most probable cause of rapid evolution into Richter’s syndrome. Conclusion. The use of comprehensive contemporary diagnostic techniques is highly recommended in patients who are in the progressive phase of CLL, primarily for the adequate choice of management strategy. The presented case confirms that aneuploidy in CLL patients indicates poor prognosis, which is in accordance with previous publications reporting on cases of CLL patients with aneuploidy.
AB  - Uvod. Prisustvo aneuploidije kod bolesnika sa dijagnozom hronične limfocitne leukemije (HLL), sa izuzetkom trizomije 12, smatra se retkom pojavom. Pojava hiperdiploidnog ili kariotipa blizu tetraploidnog broja hromozoma (koji se javlja kod 1–3% svih bolesnika sa HLL) smatra se lošim prognostičkim parametrom. Prikaz bolesnika. Prikazan je bolesnik u uznapredovaloj fazi HLL sa kariotipom blizu triploidnog broja hromozoma. Prognoza bolesti je preciznije određena citogenetičkom analizom kariotipa bolesnika, i dopunjena molekularnim metodama i patohistološkom analizom. Otkriveno je prisustvo kompleksnog kariotipa udruženog sa poremećajima u genima TP53, C-MYC i IGH, što je najverovatnije bio uzrok brze progresije u Rihterov sindrom. Zaključak. Primena savremenih dijagnostičkih metoda veoma je značajna kod bolesnika u uznapredovaloj fazi HLL, prvenstveno zbog adekvatnog terapijskog pristupa. Prikazani slučaj ukazuje da je prisustvo aneuploidije kod bolesnika sa HLL loš prognostički znak, što je u saglasnosti sa prethodno publikovanim prikazima bolesnika sa HLL i sa aneuploidijom u kariotipu.
T2  - Vojnosanitetski pregled
T1  - Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype
T1  - Brza progresija hronične limfocitne leukemije u Rihterov sindrom kod bolesnika sa kariotipom blizu triploidnog broja hromozom
EP  - 457
IS  - 5
SP  - 454
VL  - 80
DO  - 10.2298/VSP211111060D
ER  - 

@article{
author = "Denčić-Fekete, Marija and Terzić, Tatjana and Jaković, Ljubomir and Đurašinović, Vladislava and Karan-Đurašević, Teodora  and Radojković, Milica and Pavlović, Sonja and Bogdanović, Andrija",
year = "2023",
abstract = "Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon. Hyperdiploidy or near-tetraploidy (occurring in 1–3% of all CLL patients) usually confer a poor prognosis. Case report. We report a patient in a progressive phase of CLL with near–triploid karyotype. The prognosis of the disease was more precisely determined by applying the cytogenetic analysis of the karyotype and was complemented with molecular methods and pathohistological examination. The complex karyotype was accompanied by the TP53, C-MYC, and IGH gene disruptions, the most probable cause of rapid evolution into Richter’s syndrome. Conclusion. The use of comprehensive contemporary diagnostic techniques is highly recommended in patients who are in the progressive phase of CLL, primarily for the adequate choice of management strategy. The presented case confirms that aneuploidy in CLL patients indicates poor prognosis, which is in accordance with previous publications reporting on cases of CLL patients with aneuploidy., Uvod. Prisustvo aneuploidije kod bolesnika sa dijagnozom hronične limfocitne leukemije (HLL), sa izuzetkom trizomije 12, smatra se retkom pojavom. Pojava hiperdiploidnog ili kariotipa blizu tetraploidnog broja hromozoma (koji se javlja kod 1–3% svih bolesnika sa HLL) smatra se lošim prognostičkim parametrom. Prikaz bolesnika. Prikazan je bolesnik u uznapredovaloj fazi HLL sa kariotipom blizu triploidnog broja hromozoma. Prognoza bolesti je preciznije određena citogenetičkom analizom kariotipa bolesnika, i dopunjena molekularnim metodama i patohistološkom analizom. Otkriveno je prisustvo kompleksnog kariotipa udruženog sa poremećajima u genima TP53, C-MYC i IGH, što je najverovatnije bio uzrok brze progresije u Rihterov sindrom. Zaključak. Primena savremenih dijagnostičkih metoda veoma je značajna kod bolesnika u uznapredovaloj fazi HLL, prvenstveno zbog adekvatnog terapijskog pristupa. Prikazani slučaj ukazuje da je prisustvo aneuploidije kod bolesnika sa HLL loš prognostički znak, što je u saglasnosti sa prethodno publikovanim prikazima bolesnika sa HLL i sa aneuploidijom u kariotipu.",
journal = "Vojnosanitetski pregled",
title = "Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype, Brza progresija hronične limfocitne leukemije u Rihterov sindrom kod bolesnika sa kariotipom blizu triploidnog broja hromozom",
pages = "457-454",
number = "5",
volume = "80",
doi = "10.2298/VSP211111060D"
}

Denčić-Fekete, M., Terzić, T., Jaković, L., Đurašinović, V., Karan-Đurašević, T., Radojković, M., Pavlović, S.,& Bogdanović, A.. (2023). Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype. in Vojnosanitetski pregled, 80(5), 454-457.
https://doi.org/10.2298/VSP211111060D

Denčić-Fekete M, Terzić T, Jaković L, Đurašinović V, Karan-Đurašević T, Radojković M, Pavlović S, Bogdanović A. Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype. in Vojnosanitetski pregled. 2023;80(5):454-457.
doi:10.2298/VSP211111060D .

Denčić-Fekete, Marija, Terzić, Tatjana, Jaković, Ljubomir, Đurašinović, Vladislava, Karan-Đurašević, Teodora , Radojković, Milica, Pavlović, Sonja, Bogdanović, Andrija, "Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype" in Vojnosanitetski pregled, 80, no. 5 (2023):454-457,
https://doi.org/10.2298/VSP211111060D . .

TY  - CONF
AU  - Marjanović, Irena
AU  - Kraguljac Kurtović, Nada
AU  - Karan-Đurašević, Teodora
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2117
AB  - Introduction: CEBPA gene encodes a transciptional factor with an essential role in granulocyte differentiation process. In acute myeloid leukemia (AML), mutationsin CEBPA gene have been associated with
favorable outcome and up to now only the presence of double mutated CEBPA gene (CEBPAdm) was included in WHO classification. Prognostic influence of CEBPA mutationsin C-terminal (bZIP) region recently
have been proposed as a marker for better overalsurvival (OS), higher probability of achieving complete
remission (CR) and a lower risk of relapse. Since AML with normal karyotype (AML-NK) is a group with intermediate prognosis with the need for new prognostic markers, we analyzed the influence of bZIP CEBPA
mutations as an additional molecular marker in Serbian AML-NK patients.
Methods: CEBPA mutational screening was performed using a multiplex polymerase chain reaction–
based fragment length analysis. A total of 61 bone marrow samples were collected from de novo AMLNK patients.
Results: In our analysis, frequency of CEBPA mutations in Serbian AML-NK patients was 15% (12/61 patients). Six out of 12 patients had mutation in bZIP region (CEBPAbZIP+). All six CEBPAbZIP+ patients (100%)
achieved CR after induction chemotherapy versus 62% of CEBPAbZIP- patients. CEBPAbZIP+ patients showed a significantly longer OS (CEBPAbZIP+ 31.5 months vs CEBPAbZIP- 10 months) and disease free survival
(DFS) (CEBPAbZIP+ 30 months vs CEBPAbZIP- 10.5 months).
Conclusion: Our analysis of Serbian AML-NK patients showed CEBPAdm was not associated with better
prognosis but our results indicate that CEBPAbZIP+ status is a good candidate for a prognostic molecular
marker.
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  - Prognostic significance of cebpa mutations in patients with normal-karyotype - acute myeloid leukemia
EP  - 58
SP  - 58
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2117
ER  - 

@conference{
author = "Marjanović, Irena and Kraguljac Kurtović, Nada and Karan-Đurašević, Teodora and Pavlović, Sonja and Tošić, Nataša",
year = "2023",
abstract = "Introduction: CEBPA gene encodes a transciptional factor with an essential role in granulocyte differentiation process. In acute myeloid leukemia (AML), mutationsin CEBPA gene have been associated with
favorable outcome and up to now only the presence of double mutated CEBPA gene (CEBPAdm) was included in WHO classification. Prognostic influence of CEBPA mutationsin C-terminal (bZIP) region recently
have been proposed as a marker for better overalsurvival (OS), higher probability of achieving complete
remission (CR) and a lower risk of relapse. Since AML with normal karyotype (AML-NK) is a group with intermediate prognosis with the need for new prognostic markers, we analyzed the influence of bZIP CEBPA
mutations as an additional molecular marker in Serbian AML-NK patients.
Methods: CEBPA mutational screening was performed using a multiplex polymerase chain reaction–
based fragment length analysis. A total of 61 bone marrow samples were collected from de novo AMLNK patients.
Results: In our analysis, frequency of CEBPA mutations in Serbian AML-NK patients was 15% (12/61 patients). Six out of 12 patients had mutation in bZIP region (CEBPAbZIP+). All six CEBPAbZIP+ patients (100%)
achieved CR after induction chemotherapy versus 62% of CEBPAbZIP- patients. CEBPAbZIP+ patients showed a significantly longer OS (CEBPAbZIP+ 31.5 months vs CEBPAbZIP- 10 months) and disease free survival
(DFS) (CEBPAbZIP+ 30 months vs CEBPAbZIP- 10.5 months).
Conclusion: Our analysis of Serbian AML-NK patients showed CEBPAdm was not associated with better
prognosis but our results indicate that CEBPAbZIP+ status is a good candidate for a prognostic molecular
marker.",
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 = "Prognostic significance of cebpa mutations in patients with normal-karyotype - acute myeloid leukemia",
pages = "58-58",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2117"
}

Marjanović, I., Kraguljac Kurtović, N., Karan-Đurašević, T., Pavlović, S.,& Tošić, N.. (2023). Prognostic significance of cebpa mutations in patients with normal-karyotype - acute myeloid leukemia. 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., 58-58.
https://hdl.handle.net/21.15107/rcub_imagine_2117

Marjanović I, Kraguljac Kurtović N, Karan-Đurašević T, Pavlović S, Tošić N. Prognostic significance of cebpa mutations in patients with normal-karyotype - acute myeloid leukemia. 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;:58-58.
https://hdl.handle.net/21.15107/rcub_imagine_2117 .

Marjanović, Irena, Kraguljac Kurtović, Nada, Karan-Đurašević, Teodora, Pavlović, Sonja, Tošić, Nataša, "Prognostic significance of cebpa mutations in patients with normal-karyotype - acute myeloid leukemia" 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):58-58,
https://hdl.handle.net/21.15107/rcub_imagine_2117 .

TY  - CONF
AU  - Parezanović, Marina
AU  - Stojiljković, Maja
AU  - Anđelković, Marina
AU  - Stevanović, Nina
AU  - Spasovski, Vesna
AU  - Ugrin, Milena
AU  - Komazec, Jovana
AU  - Tošić, Nataša
AU  - Pavlović, Sonja
AU  - Celic, Dejan
AU  - Vučenović, Jelica
AU  - Skakić, Anita
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2277
AB  - Background/Objectives: Fabry disease (FD) is a rare X-linked
disorder caused by variants in the GLA gene leading to the deficiency
of lysosomal α-galactosidase-A and progressive accumulation
of globotriaosylceramide affecting the heart, nervous system,
and kidneys. FD has overlapping phenotypes and often remains
undiagnosed. Therefore, the precise molecular-genetic diagnosis
and the earliest possible treatment are essential to avoid significant
disease progression.
Methods: We analyzed 95 (34 female and 61 male) hemodialysis
patients with clinical suspicion of FD using Sanger sequencing
of all coding exons (7) and flanking intron regions of the GLA
gene, and measured the relative expression of the GLA gene in
available samples.
Results: The genetic analysis revealed 3 patients with a missense
variant (p.Asp313Tyr), and 10 patients with combinations of
non-coding variants, described as complex intronic haplotypes
(CIHs). CIH1 (c.-10C>T, c.370-81_370-77delCAGCC, c.640-16A>G,
c.1000-22C>T), the most frequent haplotype, was detected in 7
(7.4%) patients. Lyso-Gb3 biomarker levels were within the normal
range in each tested patient. However, RT-qPCR analysis revealed
decreased relative expression of GLA gene in PBMC of 2 female
patients with CIH1 and one female patient carrying only c.-10C>T
variant by 9,1%, 7,4%, 46,3%, respectively, pointing out that further
analyses are needed to confirm/exclude FD in these patients.
Conclusion: Because the effects of CIHs are not yet fully
understood, our work highlights the importance of analyzing
intronic regions of the GLA gene as genetic modifiers and the
need to include expression analysis in the diagnostic algorithm.
PB  - Springer Nature
C3  - European Journal of Human Genetic
T1  - Molecular diagnosis of Fabry disease in patients with chronic renal failure of unknown etiology
EP  - 433
IS  - Supplement S1
SP  - 432
VL  - 31
DO  - 10.1038/s41431-023-01339-3
ER  - 

@conference{
author = "Parezanović, Marina and Stojiljković, Maja and Anđelković, Marina and Stevanović, Nina and Spasovski, Vesna and Ugrin, Milena and Komazec, Jovana and Tošić, Nataša and Pavlović, Sonja and Celic, Dejan and Vučenović, Jelica and Skakić, Anita",
year = "2023",
abstract = "Background/Objectives: Fabry disease (FD) is a rare X-linked
disorder caused by variants in the GLA gene leading to the deficiency
of lysosomal α-galactosidase-A and progressive accumulation
of globotriaosylceramide affecting the heart, nervous system,
and kidneys. FD has overlapping phenotypes and often remains
undiagnosed. Therefore, the precise molecular-genetic diagnosis
and the earliest possible treatment are essential to avoid significant
disease progression.
Methods: We analyzed 95 (34 female and 61 male) hemodialysis
patients with clinical suspicion of FD using Sanger sequencing
of all coding exons (7) and flanking intron regions of the GLA
gene, and measured the relative expression of the GLA gene in
available samples.
Results: The genetic analysis revealed 3 patients with a missense
variant (p.Asp313Tyr), and 10 patients with combinations of
non-coding variants, described as complex intronic haplotypes
(CIHs). CIH1 (c.-10C>T, c.370-81_370-77delCAGCC, c.640-16A>G,
c.1000-22C>T), the most frequent haplotype, was detected in 7
(7.4%) patients. Lyso-Gb3 biomarker levels were within the normal
range in each tested patient. However, RT-qPCR analysis revealed
decreased relative expression of GLA gene in PBMC of 2 female
patients with CIH1 and one female patient carrying only c.-10C>T
variant by 9,1%, 7,4%, 46,3%, respectively, pointing out that further
analyses are needed to confirm/exclude FD in these patients.
Conclusion: Because the effects of CIHs are not yet fully
understood, our work highlights the importance of analyzing
intronic regions of the GLA gene as genetic modifiers and the
need to include expression analysis in the diagnostic algorithm.",
publisher = "Springer Nature",
journal = "European Journal of Human Genetic",
title = "Molecular diagnosis of Fabry disease in patients with chronic renal failure of unknown etiology",
pages = "433-432",
number = "Supplement S1",
volume = "31",
doi = "10.1038/s41431-023-01339-3"
}

Parezanović, M., Stojiljković, M., Anđelković, M., Stevanović, N., Spasovski, V., Ugrin, M., Komazec, J., Tošić, N., Pavlović, S., Celic, D., Vučenović, J.,& Skakić, A.. (2023). Molecular diagnosis of Fabry disease in patients with chronic renal failure of unknown etiology. in European Journal of Human Genetic
Springer Nature., 31(Supplement S1), 432-433.
https://doi.org/10.1038/s41431-023-01339-3

Parezanović M, Stojiljković M, Anđelković M, Stevanović N, Spasovski V, Ugrin M, Komazec J, Tošić N, Pavlović S, Celic D, Vučenović J, Skakić A. Molecular diagnosis of Fabry disease in patients with chronic renal failure of unknown etiology. in European Journal of Human Genetic. 2023;31(Supplement S1):432-433.
doi:10.1038/s41431-023-01339-3 .

Parezanović, Marina, Stojiljković, Maja, Anđelković, Marina, Stevanović, Nina, Spasovski, Vesna, Ugrin, Milena, Komazec, Jovana, Tošić, Nataša, Pavlović, Sonja, Celic, Dejan, Vučenović, Jelica, Skakić, Anita, "Molecular diagnosis of Fabry disease in patients with chronic renal failure of unknown etiology" in European Journal of Human Genetic, 31, no. Supplement S1 (2023):432-433,
https://doi.org/10.1038/s41431-023-01339-3 . .

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  - Stevanović, Nina
AU  - Anđelković, Marina
AU  - Skakić, Anita
AU  - Spasovski, Vesna
AU  - Stojiljković, Maja
AU  - Parezanović, Marina
AU  - Ugrin, Milena
AU  - Pavlović, Sonja
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2275
AB  - Background/Objectives: Primary ciliary dyskinesia (PCD) is a
disease caused by impaired ciliary motility and mainly affects the
lungs and reproductive organs. Inheritance is autosomal recessive
and X-linked with more than 40 disease-causing genes, wherefore
PCD patients have diverse clinical manifestations, thus making
diagnosis difficult. The utility of next-generation sequencing (NGS)
technology for diagnostic purposes allows a better understanding
of the PCD genetic background. However, the identification of
specific disease-causing variants is challenging. The objective of
this study was to create a unique guideline that will enable the
standardization of the assessment of novel variants within PCD
associated genes.
Methods: The study included designing a pipeline for the classification
of the rare genetic variants detected using NGS. The pipeline
included in silico (translation, 3D-model, protein-protein interactions,
sequence conservation, posttranslational modifications) and functional
analysis (expressional analysis, Western Blot) of the variants.
Results: The designed pipeline consists of three steps: sequencing,
detection, and identification of genes/variants; classification of
variants according to their effect; and variant characterization using
in silico structural and functional analysis. The pipeline was validated
by the analysis of the variants detected in a disease-causing
gene (DNAI1) and the novel candidate gene (SPAG16).
Conclusion: The application of the pipeline resulted in the
identification of disease-causing variants, as well as pathogenicity
validation, through the analysis on transcriptional, translational,
and posttranslational levels.The application of created pipeline
leads to the confirmation of PCD diagnosis and enables a shift
from candidate to disease-causing gene.
PB  - Springer Nature
C3  - European Journal of Human Genetic
T1  - Unique pipeline for the assessment of novel genetic variants leads to confirmation of PCD diagnosis
EP  - 383
IS  - Supplement S1
SP  - 383
VL  - 31
DO  - 10.1038/s41431-023-01338-4
ER  - 

@conference{
author = "Stevanović, Nina and Anđelković, Marina and Skakić, Anita and Spasovski, Vesna and Stojiljković, Maja and Parezanović, Marina and Ugrin, Milena and Pavlović, Sonja",
year = "2023",
abstract = "Background/Objectives: Primary ciliary dyskinesia (PCD) is a
disease caused by impaired ciliary motility and mainly affects the
lungs and reproductive organs. Inheritance is autosomal recessive
and X-linked with more than 40 disease-causing genes, wherefore
PCD patients have diverse clinical manifestations, thus making
diagnosis difficult. The utility of next-generation sequencing (NGS)
technology for diagnostic purposes allows a better understanding
of the PCD genetic background. However, the identification of
specific disease-causing variants is challenging. The objective of
this study was to create a unique guideline that will enable the
standardization of the assessment of novel variants within PCD
associated genes.
Methods: The study included designing a pipeline for the classification
of the rare genetic variants detected using NGS. The pipeline
included in silico (translation, 3D-model, protein-protein interactions,
sequence conservation, posttranslational modifications) and functional
analysis (expressional analysis, Western Blot) of the variants.
Results: The designed pipeline consists of three steps: sequencing,
detection, and identification of genes/variants; classification of
variants according to their effect; and variant characterization using
in silico structural and functional analysis. The pipeline was validated
by the analysis of the variants detected in a disease-causing
gene (DNAI1) and the novel candidate gene (SPAG16).
Conclusion: The application of the pipeline resulted in the
identification of disease-causing variants, as well as pathogenicity
validation, through the analysis on transcriptional, translational,
and posttranslational levels.The application of created pipeline
leads to the confirmation of PCD diagnosis and enables a shift
from candidate to disease-causing gene.",
publisher = "Springer Nature",
journal = "European Journal of Human Genetic",
title = "Unique pipeline for the assessment of novel genetic variants leads to confirmation of PCD diagnosis",
pages = "383-383",
number = "Supplement S1",
volume = "31",
doi = "10.1038/s41431-023-01338-4"
}

Stevanović, N., Anđelković, M., Skakić, A., Spasovski, V., Stojiljković, M., Parezanović, M., Ugrin, M.,& Pavlović, S.. (2023). Unique pipeline for the assessment of novel genetic variants leads to confirmation of PCD diagnosis. in European Journal of Human Genetic
Springer Nature., 31(Supplement S1), 383-383.
https://doi.org/10.1038/s41431-023-01338-4

Stevanović N, Anđelković M, Skakić A, Spasovski V, Stojiljković M, Parezanović M, Ugrin M, Pavlović S. Unique pipeline for the assessment of novel genetic variants leads to confirmation of PCD diagnosis. in European Journal of Human Genetic. 2023;31(Supplement S1):383-383.
doi:10.1038/s41431-023-01338-4 .

Stevanović, Nina, Anđelković, Marina, Skakić, Anita, Spasovski, Vesna, Stojiljković, Maja, Parezanović, Marina, Ugrin, Milena, Pavlović, Sonja, "Unique pipeline for the assessment of novel genetic variants leads to confirmation of PCD diagnosis" in European Journal of Human Genetic, 31, no. Supplement S1 (2023):383-383,
https://doi.org/10.1038/s41431-023-01338-4 . .

TY  - CONF
AU  - Karan-Đurašević, Teodora
AU  - Kaćanski, Nataša
AU  - Kostić, Tatjana
AU  - Marjanović, Irena
AU  - Tošić, Nataša
AU  - Perić, Jelena
AU  - Kolarović, Jovanka
AU  - Janić, Dragana
AU  - Pavlović, Sonja
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2113
AB  - Introduction: Childhood B-cell precursor acute lymphoblastic leukemic (BCP-ALL) can be traced back to
birth using leukemic clone-specific immunoglobulin heavy chain (IGH) rearrangements, implying prenatal origin of this disease. The aim of this study was to analyze neonatal blood spots (Guthrie cards) of
childhood BCP-ALL patients for the presence of clonotypic IGH rearrangements.
Methods: The study enrolled 24 patients aged 1 to 9.6 years. Based on the sequences of IGH rearrangements identified in diagnostic lymphoblasts, 2 patient-specific primers were designed for each patient
and used in semi-nested PCR for the detection of preleukemic clones at birth.
Results: Clonotypic IGH rearrangements were detected in neonatal blood spots of 54.2% of patients. In
two cases that had double IGH rearrangements at diagnosis, only one rearrangement was present at
birth, while in the third case both leukemic rearrangements were detected in neonatal blood. Guthrie
card-positive findings were significantly more frequent in children ≤5 years of age than in older children
(p=0.011). Regarding patients’characteristics at birth and at diagnosis, Guthrie card-positivity was not associated with sex, birth weight and mother’s age, as well as with white blood cell count, percentage of
bone marrow blasts, immunophenotype and the presence of ETV6/RUNX1 and TCF3/PBX1 fusion genes
at diagnosis.
Conclusion: Our study confirms that a large proportion of childhood BCP-ALL originates in utero, regardless of the molecularsubtype defined by chromosomal aberrations. The latency period to the overt
leukemia depends on the presence of preleukemic clone at birth, as well as on the postnatal transforming genetic events.
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  - Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia
EP  - 59
SP  - 59
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2113
ER  - 

@conference{
author = "Karan-Đurašević, Teodora and Kaćanski, Nataša and Kostić, Tatjana and Marjanović, Irena and Tošić, Nataša and Perić, Jelena and Kolarović, Jovanka and Janić, Dragana and Pavlović, Sonja",
year = "2023",
abstract = "Introduction: Childhood B-cell precursor acute lymphoblastic leukemic (BCP-ALL) can be traced back to
birth using leukemic clone-specific immunoglobulin heavy chain (IGH) rearrangements, implying prenatal origin of this disease. The aim of this study was to analyze neonatal blood spots (Guthrie cards) of
childhood BCP-ALL patients for the presence of clonotypic IGH rearrangements.
Methods: The study enrolled 24 patients aged 1 to 9.6 years. Based on the sequences of IGH rearrangements identified in diagnostic lymphoblasts, 2 patient-specific primers were designed for each patient
and used in semi-nested PCR for the detection of preleukemic clones at birth.
Results: Clonotypic IGH rearrangements were detected in neonatal blood spots of 54.2% of patients. In
two cases that had double IGH rearrangements at diagnosis, only one rearrangement was present at
birth, while in the third case both leukemic rearrangements were detected in neonatal blood. Guthrie
card-positive findings were significantly more frequent in children ≤5 years of age than in older children
(p=0.011). Regarding patients’characteristics at birth and at diagnosis, Guthrie card-positivity was not associated with sex, birth weight and mother’s age, as well as with white blood cell count, percentage of
bone marrow blasts, immunophenotype and the presence of ETV6/RUNX1 and TCF3/PBX1 fusion genes
at diagnosis.
Conclusion: Our study confirms that a large proportion of childhood BCP-ALL originates in utero, regardless of the molecularsubtype defined by chromosomal aberrations. The latency period to the overt
leukemia depends on the presence of preleukemic clone at birth, as well as on the postnatal transforming genetic events.",
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 = "Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia",
pages = "59-59",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2113"
}

Karan-Đurašević, T., Kaćanski, N., Kostić, T., Marjanović, I., Tošić, N., Perić, J., Kolarović, J., Janić, D.,& Pavlović, S.. (2023). Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia. 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., 59-59.
https://hdl.handle.net/21.15107/rcub_imagine_2113

Karan-Đurašević T, Kaćanski N, Kostić T, Marjanović I, Tošić N, Perić J, Kolarović J, Janić D, Pavlović S. Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia. 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;:59-59.
https://hdl.handle.net/21.15107/rcub_imagine_2113 .

Karan-Đurašević, Teodora, Kaćanski, Nataša, Kostić, Tatjana, Marjanović, Irena, Tošić, Nataša, Perić, Jelena, Kolarović, Jovanka, Janić, Dragana, Pavlović, Sonja, "Detection of preleukemic clones in neonatal blood spots of children with B-cell precursor acute lymphoblastic leukemia" 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):59-59,
https://hdl.handle.net/21.15107/rcub_imagine_2113 .

TY  - DATA
AU  - Spasovski, Vesna
AU  - Srzentić Dražilov, Sanja
AU  - Nikčević, Gordana
AU  - Baščarević, Zoran
AU  - Stojiljković, Maja
AU  - Pavlović, Sonja
AU  - Spasovski, Duško
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2089
AB  - Background: Perthes disease is a juvenile form of osteonecrosis of the femoral head that affects children under the age of 15. One hundred years after its discovery, some light has been shed on its etiology and the biological factors relevant to its etiology and disease severity. Methods: The aim of this study was to summarize the literature findings on the biological factors relevant to the pathogenesis of Perthes disease, their diagnostic and clinical significance, and their therapeutic potential. A special focus on candidate genes as susceptibility factors and factors relevant to clinical severity was made, where studies reporting clinical or preclinical results were considered as the inclusion criteria. PubMed databases were searched by two independent researchers. Sixty-eight articles were included in this review. Results on the factors relevant to vascular involvement and inflammatory molecules indicated as factors that contribute to impaired bone remodeling have been summarized. Moreover, several candidate genes relevant to an active phase of the disease have been suggested as possible biological therapeutic targets. Conclusions: Delineation of molecular biomarkers that underlie the pathophysiological process of Perthes disease can allow for the provision of earlier and more accurate diagnoses of the disease and more precise follow-ups and treatment in the early phases of the disease.
PB  - MDPI
T2  - Diagnostics
T1  - Supplementary material for: Spasovski, V.; Srzentić Dražilov, S.; Nikčević, G.; Baščarević, Z.; Stojiljković, M.; Pavlović, S.; Spasovski, D. Molecular Biomarkers in Perthes Disease: A Review. Diagnostics 2023, 13 (3), 471. https://doi.org/10.3390/diagnostics13030471.
IS  - 3
SP  - 471
VL  - 13
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2089
ER  - 

@misc{
author = "Spasovski, Vesna and Srzentić Dražilov, Sanja and Nikčević, Gordana and Baščarević, Zoran and Stojiljković, Maja and Pavlović, Sonja and Spasovski, Duško",
year = "2023",
abstract = "Background: Perthes disease is a juvenile form of osteonecrosis of the femoral head that affects children under the age of 15. One hundred years after its discovery, some light has been shed on its etiology and the biological factors relevant to its etiology and disease severity. Methods: The aim of this study was to summarize the literature findings on the biological factors relevant to the pathogenesis of Perthes disease, their diagnostic and clinical significance, and their therapeutic potential. A special focus on candidate genes as susceptibility factors and factors relevant to clinical severity was made, where studies reporting clinical or preclinical results were considered as the inclusion criteria. PubMed databases were searched by two independent researchers. Sixty-eight articles were included in this review. Results on the factors relevant to vascular involvement and inflammatory molecules indicated as factors that contribute to impaired bone remodeling have been summarized. Moreover, several candidate genes relevant to an active phase of the disease have been suggested as possible biological therapeutic targets. Conclusions: Delineation of molecular biomarkers that underlie the pathophysiological process of Perthes disease can allow for the provision of earlier and more accurate diagnoses of the disease and more precise follow-ups and treatment in the early phases of the disease.",
publisher = "MDPI",
journal = "Diagnostics",
title = "Supplementary material for: Spasovski, V.; Srzentić Dražilov, S.; Nikčević, G.; Baščarević, Z.; Stojiljković, M.; Pavlović, S.; Spasovski, D. Molecular Biomarkers in Perthes Disease: A Review. Diagnostics 2023, 13 (3), 471. https://doi.org/10.3390/diagnostics13030471.",
number = "3",
pages = "471",
volume = "13",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2089"
}

Spasovski, V., Srzentić Dražilov, S., Nikčević, G., Baščarević, Z., Stojiljković, M., Pavlović, S.,& Spasovski, D.. (2023). Supplementary material for: Spasovski, V.; Srzentić Dražilov, S.; Nikčević, G.; Baščarević, Z.; Stojiljković, M.; Pavlović, S.; Spasovski, D. Molecular Biomarkers in Perthes Disease: A Review. Diagnostics 2023, 13 (3), 471. https://doi.org/10.3390/diagnostics13030471.. in Diagnostics
MDPI., 13(3), 471.
https://hdl.handle.net/21.15107/rcub_imagine_2089

Spasovski V, Srzentić Dražilov S, Nikčević G, Baščarević Z, Stojiljković M, Pavlović S, Spasovski D. Supplementary material for: Spasovski, V.; Srzentić Dražilov, S.; Nikčević, G.; Baščarević, Z.; Stojiljković, M.; Pavlović, S.; Spasovski, D. Molecular Biomarkers in Perthes Disease: A Review. Diagnostics 2023, 13 (3), 471. https://doi.org/10.3390/diagnostics13030471.. in Diagnostics. 2023;13(3):471.
https://hdl.handle.net/21.15107/rcub_imagine_2089 .

Spasovski, Vesna, Srzentić Dražilov, Sanja, Nikčević, Gordana, Baščarević, Zoran, Stojiljković, Maja, Pavlović, Sonja, Spasovski, Duško, "Supplementary material for: Spasovski, V.; Srzentić Dražilov, S.; Nikčević, G.; Baščarević, Z.; Stojiljković, M.; Pavlović, S.; Spasovski, D. Molecular Biomarkers in Perthes Disease: A Review. Diagnostics 2023, 13 (3), 471. https://doi.org/10.3390/diagnostics13030471." in Diagnostics, 13, no. 3 (2023):471,
https://hdl.handle.net/21.15107/rcub_imagine_2089 .

TY  - JOUR
AU  - Kotur, Nikola
AU  - Stanković, Biljana
AU  - Pavlović, Sonja
PY  - 2023
UR  - https://journals.lww.com/co-clinicalnutrition/Abstract/2023/07000/Micronutrients,_genetics_and_COVID_19.3.aspx#ContentAccessOptions
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1907
AB  - Purpose of review Marked inter-individual differences in the clinical manifestation of coronavirus disease 2019 (COVID-19) disease has initiated studies in the field of genetics. This review evaluates recent genetic evidence (predominantly in the last 18 months) related to micronutrients (vitamins and trace elements) and COVID-19. Recent findings  AQ5 In patients infected with SARS-CoV-2 virus, altered circulating levels of micronutrients may serve as prognostic markers of disease severity. Mendelian randomization (MR) studies did not find significant effect of variable genetically predicted levels of micronutrients on COVID-19 phenotypes, however, recent clinical studies on COVID-19 point out to vitamin D and zinc supplementation as a nutritional strategy to reduce disease severity and mortality. Recent evidence also points to variants in vitamin D receptor (VDR) gene, most notably rs2228570 (FokI) ‘‘f’’ allele and rs7975232 (ApaI) ‘‘aa’’ genotype as poor prognostic markers. Summary Since several micronutrients were included in the COVID-19 therapy protocols, research in the field of nutrigenetics of micronutrients is in progress. Recent findings from MR studies prioritize genes involved in biological effect, such as the VDR gene, rather than micronutrient status in future research. Emerging evidence on nutrigenetic markers may improve patient stratification and inform nutritional strategies against severe COVID-19.
T2  - Current Opinion in Clinical Nutrition & Metabolic Care
T2  - Current Opinion in Clinical Nutrition & Metabolic Care
T1  - Micronutrients, genetics and COVID-19
EP  - 315
IS  - 4
SP  - 309
VL  - 26
DO  - 10.1097/MCO.0000000000000942
ER  - 

@article{
author = "Kotur, Nikola and Stanković, Biljana and Pavlović, Sonja",
year = "2023",
abstract = "Purpose of review Marked inter-individual differences in the clinical manifestation of coronavirus disease 2019 (COVID-19) disease has initiated studies in the field of genetics. This review evaluates recent genetic evidence (predominantly in the last 18 months) related to micronutrients (vitamins and trace elements) and COVID-19. Recent findings  AQ5 In patients infected with SARS-CoV-2 virus, altered circulating levels of micronutrients may serve as prognostic markers of disease severity. Mendelian randomization (MR) studies did not find significant effect of variable genetically predicted levels of micronutrients on COVID-19 phenotypes, however, recent clinical studies on COVID-19 point out to vitamin D and zinc supplementation as a nutritional strategy to reduce disease severity and mortality. Recent evidence also points to variants in vitamin D receptor (VDR) gene, most notably rs2228570 (FokI) ‘‘f’’ allele and rs7975232 (ApaI) ‘‘aa’’ genotype as poor prognostic markers. Summary Since several micronutrients were included in the COVID-19 therapy protocols, research in the field of nutrigenetics of micronutrients is in progress. Recent findings from MR studies prioritize genes involved in biological effect, such as the VDR gene, rather than micronutrient status in future research. Emerging evidence on nutrigenetic markers may improve patient stratification and inform nutritional strategies against severe COVID-19.",
journal = "Current Opinion in Clinical Nutrition & Metabolic Care, Current Opinion in Clinical Nutrition & Metabolic Care",
title = "Micronutrients, genetics and COVID-19",
pages = "315-309",
number = "4",
volume = "26",
doi = "10.1097/MCO.0000000000000942"
}

Kotur, N., Stanković, B.,& Pavlović, S.. (2023). Micronutrients, genetics and COVID-19. in Current Opinion in Clinical Nutrition & Metabolic Care, 26(4), 309-315.
https://doi.org/10.1097/MCO.0000000000000942

Kotur N, Stanković B, Pavlović S. Micronutrients, genetics and COVID-19. in Current Opinion in Clinical Nutrition & Metabolic Care. 2023;26(4):309-315.
doi:10.1097/MCO.0000000000000942 .

Kotur, Nikola, Stanković, Biljana, Pavlović, Sonja, "Micronutrients, genetics and COVID-19" in Current Opinion in Clinical Nutrition & Metabolic Care, 26, no. 4 (2023):309-315,
https://doi.org/10.1097/MCO.0000000000000942 . .

TY  - CONF
AU  - Ugrin, Milena
AU  - Komazec, Jovana
AU  - Klaassen, Kristel
AU  - Skakić, Anita
AU  - Anđelković, Marina
AU  - Spasovski, Vesna
AU  - Stevanović, Nina
AU  - Parezanović, Marina
AU  - Stanković, Sara
AU  - Stojiljković, Maja
AU  - Pavlović, Sonja
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2139
AB  - Introduction: Thalassemia syndromes are heterogeneous group of hereditary anemias characterized
by defects in the synthesis of hemoglobin (Hb) polypeptide chains. These disorders comprise thalassemias and thalassemic hemoglobin variants which are predominantly caused by mutationsin a- and
b-globin genes (HBA and HBB genes). Clinical manifestations of thalassemia syndromes range from
asymptomatic thalassemia minor to severe anemia in thalassemia major cases. The aim of thisstudy was
to update our previous findings on frequency of thalassemia mutations which result from a 13-year-old
systematic survey in Serbia.
Methods: Two hundred and fourteen patients from 149 unrelated families presented with hematological parameters indicative of thalassemia syndromes were studied. Detection of α- and β-globin gene
mutations was performed using PCR and direct sequencing.
Results: Two Hb variants and twelve different β-thalassemia mutations, including two mutations previously not reported in Serbian population, were detected. Hb variant Lepore Boston-Washington wasthe
most common cause of thalassemia, with frequency of 24.3%, followed by HBB:c.316-106C>G mutation
detected in 18.1% of families. The third most frequent cause of β-thalassemia were HBB:c.118C>T and
HBB:c.93-21G>A mutations with 16.6% incidence each. Together, these four variants account for over
75% of all mutated β-globin alleles. In addition, five families affected with α-thalassemia were detected.
Conclusion: Despite the increase in cohort size by 50% between this and our previous studies, the frequency of mutations affecting HBB gene remained unchanged. Results presented in this study will update Serbian national mutation database and contribute to better understanding of geographic history
of South European and Balkan populations.
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  - Molecular basis of thalassemia syndromes in Serbia: an update
EP  - 86
SP  - 86
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2139
ER  - 

@conference{
author = "Ugrin, Milena and Komazec, Jovana and Klaassen, Kristel and Skakić, Anita and Anđelković, Marina and Spasovski, Vesna and Stevanović, Nina and Parezanović, Marina and Stanković, Sara and Stojiljković, Maja and Pavlović, Sonja",
year = "2023",
abstract = "Introduction: Thalassemia syndromes are heterogeneous group of hereditary anemias characterized
by defects in the synthesis of hemoglobin (Hb) polypeptide chains. These disorders comprise thalassemias and thalassemic hemoglobin variants which are predominantly caused by mutationsin a- and
b-globin genes (HBA and HBB genes). Clinical manifestations of thalassemia syndromes range from
asymptomatic thalassemia minor to severe anemia in thalassemia major cases. The aim of thisstudy was
to update our previous findings on frequency of thalassemia mutations which result from a 13-year-old
systematic survey in Serbia.
Methods: Two hundred and fourteen patients from 149 unrelated families presented with hematological parameters indicative of thalassemia syndromes were studied. Detection of α- and β-globin gene
mutations was performed using PCR and direct sequencing.
Results: Two Hb variants and twelve different β-thalassemia mutations, including two mutations previously not reported in Serbian population, were detected. Hb variant Lepore Boston-Washington wasthe
most common cause of thalassemia, with frequency of 24.3%, followed by HBB:c.316-106C>G mutation
detected in 18.1% of families. The third most frequent cause of β-thalassemia were HBB:c.118C>T and
HBB:c.93-21G>A mutations with 16.6% incidence each. Together, these four variants account for over
75% of all mutated β-globin alleles. In addition, five families affected with α-thalassemia were detected.
Conclusion: Despite the increase in cohort size by 50% between this and our previous studies, the frequency of mutations affecting HBB gene remained unchanged. Results presented in this study will update Serbian national mutation database and contribute to better understanding of geographic history
of South European and Balkan populations.",
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 = "Molecular basis of thalassemia syndromes in Serbia: an update",
pages = "86-86",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2139"
}

Ugrin, M., Komazec, J., Klaassen, K., Skakić, A., Anđelković, M., Spasovski, V., Stevanović, N., Parezanović, M., Stanković, S., Stojiljković, M.,& Pavlović, S.. (2023). Molecular basis of thalassemia syndromes in Serbia: an update. 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., 86-86.
https://hdl.handle.net/21.15107/rcub_imagine_2139

Ugrin M, Komazec J, Klaassen K, Skakić A, Anđelković M, Spasovski V, Stevanović N, Parezanović M, Stanković S, Stojiljković M, Pavlović S. Molecular basis of thalassemia syndromes in Serbia: an update. 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;:86-86.
https://hdl.handle.net/21.15107/rcub_imagine_2139 .

Ugrin, Milena, Komazec, Jovana, Klaassen, Kristel, Skakić, Anita, Anđelković, Marina, Spasovski, Vesna, Stevanović, Nina, Parezanović, Marina, Stanković, Sara, Stojiljković, Maja, Pavlović, Sonja, "Molecular basis of thalassemia syndromes in Serbia: an update" 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):86-86,
https://hdl.handle.net/21.15107/rcub_imagine_2139 .

TY  - CONF
AU  - Parezanović, Marina
AU  - Stevanović, Nina
AU  - Anđelković, Marina
AU  - Ugrin, Milena
AU  - Pavlović, Sonja
AU  - Stojiljković, Maja
AU  - Skakić, Anita
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2176
AB  - Background: The current therapy for glycogen
storage disease Ib (GSD Ib) fails to prevent the
development of renal dysfunction, and hepatocellular/
renal carcinoma in many patients. Therefore,
new therapies for the treatment of life-threatening
complications of GSD Ib are of great interest. Recent
studies revealed that chronic endoplasmic reticulum
(ER) stress and increased apoptosis are
involved in pathogenesis of GSD Ib, whereas small
molecule phenylbutyrate (4-PBA) showed the capability
of reducing ER stress-induced apoptosis.
Methods: To analyze the function of 4-PBA
as ER stress inhibitor, we created a G6PT-deficient
FlpInHEK293 cell line using the CRISPR/Cas9
knockout method and tested if 4-PBA could decrease
chronic metabolic stress and prevent cell
death. We analyzed molecular markers of unfolded
protein response (ATF4, DDIT3, HSPA5, XBP1s),
and apoptosis (BCL2/BAX, CASP3, CASP7) in
G6PT-deficient cells before and upon the treatment
using RT-qPCR method.Results: Treatment with the most effective
dose of 1 mM 4-PBA reduced the expression of
executioner caspases (CASP3, CASP7) and increased
the BCL2/BAX ratio, indicating a reduced
apoptosis level. Additionally, 4-PBA decreased
UPR marker expression in G6PT-deficient cells.
Our results proved the concept that 4-PBA could
alleviate markers of ER stress detected in the GSD
Ib in vitro model system and prevent cell death.
Conclusion: We demonstrated, for the first
time, the potential of 4-PBA to be repurposed for
patients with GSD Ib and open perspectives for
translational research that could contribute to a
knowledge of GSD Ib treatments and other genetic
diseases where chronic ER stress-induced apoptosis
contribute to the disease pathology.
PB  - International Journal of Medical Genetic
C3  - International Journal of Medical Genetics
T1  - PHENYLBUTYRIC ACID REDUCES MOLECULAR MARKERS OF ER STRESS-INDUCED APOPTOSIS IN GLYCOGEN STORAGE DISEASE TYPE IB IN VITRO MODEL SYSTEM
EP  - 54
IS  - Supplement
SP  - 54
VL  - 26
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2176
ER  - 

@conference{
author = "Parezanović, Marina and Stevanović, Nina and Anđelković, Marina and Ugrin, Milena and Pavlović, Sonja and Stojiljković, Maja and Skakić, Anita",
year = "2023",
abstract = "Background: The current therapy for glycogen
storage disease Ib (GSD Ib) fails to prevent the
development of renal dysfunction, and hepatocellular/
renal carcinoma in many patients. Therefore,
new therapies for the treatment of life-threatening
complications of GSD Ib are of great interest. Recent
studies revealed that chronic endoplasmic reticulum
(ER) stress and increased apoptosis are
involved in pathogenesis of GSD Ib, whereas small
molecule phenylbutyrate (4-PBA) showed the capability
of reducing ER stress-induced apoptosis.
Methods: To analyze the function of 4-PBA
as ER stress inhibitor, we created a G6PT-deficient
FlpInHEK293 cell line using the CRISPR/Cas9
knockout method and tested if 4-PBA could decrease
chronic metabolic stress and prevent cell
death. We analyzed molecular markers of unfolded
protein response (ATF4, DDIT3, HSPA5, XBP1s),
and apoptosis (BCL2/BAX, CASP3, CASP7) in
G6PT-deficient cells before and upon the treatment
using RT-qPCR method.Results: Treatment with the most effective
dose of 1 mM 4-PBA reduced the expression of
executioner caspases (CASP3, CASP7) and increased
the BCL2/BAX ratio, indicating a reduced
apoptosis level. Additionally, 4-PBA decreased
UPR marker expression in G6PT-deficient cells.
Our results proved the concept that 4-PBA could
alleviate markers of ER stress detected in the GSD
Ib in vitro model system and prevent cell death.
Conclusion: We demonstrated, for the first
time, the potential of 4-PBA to be repurposed for
patients with GSD Ib and open perspectives for
translational research that could contribute to a
knowledge of GSD Ib treatments and other genetic
diseases where chronic ER stress-induced apoptosis
contribute to the disease pathology.",
publisher = "International Journal of Medical Genetic",
journal = "International Journal of Medical Genetics",
title = "PHENYLBUTYRIC ACID REDUCES MOLECULAR MARKERS OF ER STRESS-INDUCED APOPTOSIS IN GLYCOGEN STORAGE DISEASE TYPE IB IN VITRO MODEL SYSTEM",
pages = "54-54",
number = "Supplement",
volume = "26",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2176"
}

Parezanović, M., Stevanović, N., Anđelković, M., Ugrin, M., Pavlović, S., Stojiljković, M.,& Skakić, A.. (2023). PHENYLBUTYRIC ACID REDUCES MOLECULAR MARKERS OF ER STRESS-INDUCED APOPTOSIS IN GLYCOGEN STORAGE DISEASE TYPE IB IN VITRO MODEL SYSTEM. in International Journal of Medical Genetics
International Journal of Medical Genetic., 26(Supplement), 54-54.
https://hdl.handle.net/21.15107/rcub_imagine_2176

Parezanović M, Stevanović N, Anđelković M, Ugrin M, Pavlović S, Stojiljković M, Skakić A. PHENYLBUTYRIC ACID REDUCES MOLECULAR MARKERS OF ER STRESS-INDUCED APOPTOSIS IN GLYCOGEN STORAGE DISEASE TYPE IB IN VITRO MODEL SYSTEM. in International Journal of Medical Genetics. 2023;26(Supplement):54-54.
https://hdl.handle.net/21.15107/rcub_imagine_2176 .

Parezanović, Marina, Stevanović, Nina, Anđelković, Marina, Ugrin, Milena, Pavlović, Sonja, Stojiljković, Maja, Skakić, Anita, "PHENYLBUTYRIC ACID REDUCES MOLECULAR MARKERS OF ER STRESS-INDUCED APOPTOSIS IN GLYCOGEN STORAGE DISEASE TYPE IB IN VITRO MODEL SYSTEM" in International Journal of Medical Genetics, 26, no. Supplement (2023):54-54,
https://hdl.handle.net/21.15107/rcub_imagine_2176 .

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  - JOUR
AU  - Pravdić, Zlatko
AU  - Vuković, Nada Suvajdžić
AU  - Gašić, Vladimir
AU  - Marjanović, Irena
AU  - Karan-Đurašević, Teodora
AU  - Pavlović, Sonja
AU  - Tošić, Nataša
PY  - 2023
UR  - https://sciendo.com/article/10.2478/raon-2023-0017
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2291
AB  - Background: Deregulation of the apoptotic process underlies the pathogenesis of many cancers, including leukemia, but is also very important for the success of chemotherapy treatment. Therefore, the gene expression profile of main apoptotic factors, such as anti-apoptotic BCL2 (B-cell lymphoma protein 2) and pro-apoptotic BAX (BCL2-associated X), as well as genes involved in the multi-drug resistance (ABCB1), could have significant impact on the prognosis and could be used as targets for specific therapy.Patients and methodsWe analyzed the expression of BCL2, BAX, and ABCB1 in bone-marrow samples collected at diagnosis from 51 adult patients with acute myeloid leukemia with normal karyotype (AML-NK) using real-time polymerase chain reaction method, and examined their prognostic potential.ResultsIncreased expression of BCL2 (BCL2+) was associated with the presence of chemoresistance (p = 0.024), while patients with low BAX expression were more prone to relapse (p = 0.047). Analysis of the combined effect of BCL2 and BAX expression showed that 87% of patients with BAX/BCL2low status were resistant to therapy (p = 0.044). High expression of ABCB1 was associated with BCL2+ status (p < 0.001), and with absence FLT3-ITD mutations (p = 0.019).ConclusionsThe present analysis of BCL2, BAX, and ABCB1 gene expression profiles is the first study focusing solely
PB  - Sciendo
T2  - Radiology and Oncology
T1  - The influence of BCL2, BAX, and ABCB1 gene expression on prognosis of adult de novo acute myeloid leukemia with normal karyotype patients
EP  - 248
IS  - 2
SP  - 239
VL  - 57
DO  - 10.2478/raon-2023-0017
ER  - 

@article{
author = "Pravdić, Zlatko and Vuković, Nada Suvajdžić and Gašić, Vladimir and Marjanović, Irena and Karan-Đurašević, Teodora and Pavlović, Sonja and Tošić, Nataša",
year = "2023",
abstract = "Background: Deregulation of the apoptotic process underlies the pathogenesis of many cancers, including leukemia, but is also very important for the success of chemotherapy treatment. Therefore, the gene expression profile of main apoptotic factors, such as anti-apoptotic BCL2 (B-cell lymphoma protein 2) and pro-apoptotic BAX (BCL2-associated X), as well as genes involved in the multi-drug resistance (ABCB1), could have significant impact on the prognosis and could be used as targets for specific therapy.Patients and methodsWe analyzed the expression of BCL2, BAX, and ABCB1 in bone-marrow samples collected at diagnosis from 51 adult patients with acute myeloid leukemia with normal karyotype (AML-NK) using real-time polymerase chain reaction method, and examined their prognostic potential.ResultsIncreased expression of BCL2 (BCL2+) was associated with the presence of chemoresistance (p = 0.024), while patients with low BAX expression were more prone to relapse (p = 0.047). Analysis of the combined effect of BCL2 and BAX expression showed that 87% of patients with BAX/BCL2low status were resistant to therapy (p = 0.044). High expression of ABCB1 was associated with BCL2+ status (p < 0.001), and with absence FLT3-ITD mutations (p = 0.019).ConclusionsThe present analysis of BCL2, BAX, and ABCB1 gene expression profiles is the first study focusing solely",
publisher = "Sciendo",
journal = "Radiology and Oncology",
title = "The influence of BCL2, BAX, and ABCB1 gene expression on prognosis of adult de novo acute myeloid leukemia with normal karyotype patients",
pages = "248-239",
number = "2",
volume = "57",
doi = "10.2478/raon-2023-0017"
}

Pravdić, Z., Vuković, N. S., Gašić, V., Marjanović, I., Karan-Đurašević, T., Pavlović, S.,& Tošić, N.. (2023). The influence of BCL2, BAX, and ABCB1 gene expression on prognosis of adult de novo acute myeloid leukemia with normal karyotype patients. in Radiology and Oncology
Sciendo., 57(2), 239-248.
https://doi.org/10.2478/raon-2023-0017

Pravdić Z, Vuković NS, Gašić V, Marjanović I, Karan-Đurašević T, Pavlović S, Tošić N. The influence of BCL2, BAX, and ABCB1 gene expression on prognosis of adult de novo acute myeloid leukemia with normal karyotype patients. in Radiology and Oncology. 2023;57(2):239-248.
doi:10.2478/raon-2023-0017 .

Pravdić, Zlatko, Vuković, Nada Suvajdžić, Gašić, Vladimir, Marjanović, Irena, Karan-Đurašević, Teodora, Pavlović, Sonja, Tošić, Nataša, "The influence of BCL2, BAX, and ABCB1 gene expression on prognosis of adult de novo acute myeloid leukemia with normal karyotype patients" in Radiology and Oncology, 57, no. 2 (2023):239-248,
https://doi.org/10.2478/raon-2023-0017 . .

TY  - CONF
AU  - Pavlović, Sonja
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1897
AB  - Although medicine always aimed to be personalized, true implementation of personalized medicine in
health care practice has started recently. Fascinating progress of molecular genetics has strongly
contributed to this great achievement of modern medicine. Personalized medicine, also known as
genome-based medicine and precision medicine, uses the knowledge of molecular basis of the disease
in order to individualize treatment for each patient. Development of novel powerful high-throughput
technologies has enabled better insight into “oms” landscape of many diseases, resulting in application
of precision medicine approaches in their treatment. There are four cornerstones of modern precision
medicine: “omics”-based diagnostics, pharmacogenomics, specific molecular targeted, gene and
cellular therapy and predictive genetics. One of the most important successes of precision medicine is a
discovery of novel diagnostic molecular markers. Furthermore, numerous newly discovered molecular
markers have contributed to more precise classification of patients in distinct prognostic groups, leading
to specific, more successful treatment protocols. Development of pharmacogenomics platforms and
application of molecular–targeted therapy have led to the individualization of therapy, tailored to
genetic profile of a disease in each patient. The development of gene therapies which can cure or
prevent a disease by targeting disease-causing molecular defect has confirmed that the precision
medicine has responded successfully to a great challenge. Additionally, cellular and tissue therapies
have opened new possibilities for personalized treatment of many patients. Growing knowledge in
predictive genetics leads to the preventive medicine, the most important goal of modern medicine.
There is no doubt that we are getting closer to full implementation of precision medicine in every day
clinical practice.
PB  - Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo
C3  - Genetics & Applications
T1  - Genomics as a basis for precision medicine
IS  - 2 (Special edition)
SP  - 7
VL  - 7
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1897
ER  - 

@conference{
author = "Pavlović, Sonja",
year = "2023",
abstract = "Although medicine always aimed to be personalized, true implementation of personalized medicine in
health care practice has started recently. Fascinating progress of molecular genetics has strongly
contributed to this great achievement of modern medicine. Personalized medicine, also known as
genome-based medicine and precision medicine, uses the knowledge of molecular basis of the disease
in order to individualize treatment for each patient. Development of novel powerful high-throughput
technologies has enabled better insight into “oms” landscape of many diseases, resulting in application
of precision medicine approaches in their treatment. There are four cornerstones of modern precision
medicine: “omics”-based diagnostics, pharmacogenomics, specific molecular targeted, gene and
cellular therapy and predictive genetics. One of the most important successes of precision medicine is a
discovery of novel diagnostic molecular markers. Furthermore, numerous newly discovered molecular
markers have contributed to more precise classification of patients in distinct prognostic groups, leading
to specific, more successful treatment protocols. Development of pharmacogenomics platforms and
application of molecular–targeted therapy have led to the individualization of therapy, tailored to
genetic profile of a disease in each patient. The development of gene therapies which can cure or
prevent a disease by targeting disease-causing molecular defect has confirmed that the precision
medicine has responded successfully to a great challenge. Additionally, cellular and tissue therapies
have opened new possibilities for personalized treatment of many patients. Growing knowledge in
predictive genetics leads to the preventive medicine, the most important goal of modern medicine.
There is no doubt that we are getting closer to full implementation of precision medicine in every day
clinical practice.",
publisher = "Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo",
journal = "Genetics & Applications",
title = "Genomics as a basis for precision medicine",
number = "2 (Special edition)",
pages = "7",
volume = "7",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1897"
}

Pavlović, S.. (2023). Genomics as a basis for precision medicine. in Genetics & Applications
Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo., 7(2 (Special edition)), 7.
https://hdl.handle.net/21.15107/rcub_imagine_1897

Pavlović S. Genomics as a basis for precision medicine. in Genetics & Applications. 2023;7(2 (Special edition)):7.
https://hdl.handle.net/21.15107/rcub_imagine_1897 .

Pavlović, Sonja, "Genomics as a basis for precision medicine" in Genetics & Applications, 7, no. 2 (Special edition) (2023):7,
https://hdl.handle.net/21.15107/rcub_imagine_1897 .

TY  - JOUR
AU  - Spasovski, Vesna
AU  - Srzentić Dražilov, Sanja
AU  - Nikčević, Gordana
AU  - Baščarević, Zoran
AU  - Stojiljković, Maja
AU  - Pavlović, Sonja
AU  - Spasovski, Duško
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2088
AB  - Background: Perthes disease is a juvenile form of osteonecrosis of the femoral head that affects children under the age of 15. One hundred years after its discovery, some light has been shed on its etiology and the biological factors relevant to its etiology and disease severity. Methods: The aim of this study was to summarize the literature findings on the biological factors relevant to the pathogenesis of Perthes disease, their diagnostic and clinical significance, and their therapeutic potential. A special focus on candidate genes as susceptibility factors and factors relevant to clinical severity was made, where studies reporting clinical or preclinical results were considered as the inclusion criteria. PubMed databases were searched by two independent researchers. Sixty-eight articles were included in this review. Results on the factors relevant to vascular involvement and inflammatory molecules indicated as factors that contribute to impaired bone remodeling have been summarized. Moreover, several candidate genes relevant to an active phase of the disease have been suggested as possible biological therapeutic targets. Conclusions: Delineation of molecular biomarkers that underlie the pathophysiological process of Perthes disease can allow for the provision of earlier and more accurate diagnoses of the disease and more precise follow-ups and treatment in the early phases of the disease.
PB  - MDPI
T2  - Diagnostics
T1  - Molecular Biomarkers in Perthes Disease: A Review
IS  - 3
SP  - 471
VL  - 13
DO  - 10.3390/diagnostics13030471
ER  - 

@article{
author = "Spasovski, Vesna and Srzentić Dražilov, Sanja and Nikčević, Gordana and Baščarević, Zoran and Stojiljković, Maja and Pavlović, Sonja and Spasovski, Duško",
year = "2023",
abstract = "Background: Perthes disease is a juvenile form of osteonecrosis of the femoral head that affects children under the age of 15. One hundred years after its discovery, some light has been shed on its etiology and the biological factors relevant to its etiology and disease severity. Methods: The aim of this study was to summarize the literature findings on the biological factors relevant to the pathogenesis of Perthes disease, their diagnostic and clinical significance, and their therapeutic potential. A special focus on candidate genes as susceptibility factors and factors relevant to clinical severity was made, where studies reporting clinical or preclinical results were considered as the inclusion criteria. PubMed databases were searched by two independent researchers. Sixty-eight articles were included in this review. Results on the factors relevant to vascular involvement and inflammatory molecules indicated as factors that contribute to impaired bone remodeling have been summarized. Moreover, several candidate genes relevant to an active phase of the disease have been suggested as possible biological therapeutic targets. Conclusions: Delineation of molecular biomarkers that underlie the pathophysiological process of Perthes disease can allow for the provision of earlier and more accurate diagnoses of the disease and more precise follow-ups and treatment in the early phases of the disease.",
publisher = "MDPI",
journal = "Diagnostics",
title = "Molecular Biomarkers in Perthes Disease: A Review",
number = "3",
pages = "471",
volume = "13",
doi = "10.3390/diagnostics13030471"
}

Spasovski, V., Srzentić Dražilov, S., Nikčević, G., Baščarević, Z., Stojiljković, M., Pavlović, S.,& Spasovski, D.. (2023). Molecular Biomarkers in Perthes Disease: A Review. in Diagnostics
MDPI., 13(3), 471.
https://doi.org/10.3390/diagnostics13030471

Spasovski V, Srzentić Dražilov S, Nikčević G, Baščarević Z, Stojiljković M, Pavlović S, Spasovski D. Molecular Biomarkers in Perthes Disease: A Review. in Diagnostics. 2023;13(3):471.
doi:10.3390/diagnostics13030471 .

Spasovski, Vesna, Srzentić Dražilov, Sanja, Nikčević, Gordana, Baščarević, Zoran, Stojiljković, Maja, Pavlović, Sonja, Spasovski, Duško, "Molecular Biomarkers in Perthes Disease: A Review" in Diagnostics, 13, no. 3 (2023):471,
https://doi.org/10.3390/diagnostics13030471 . .

TY  - CONF
AU  - Skakić, Anita
AU  - Stevanović, Nina
AU  - Spasovski, Vesna
AU  - Parezanović, Marina
AU  - Ugrin, Milena
AU  - Komazec, Jovana
AU  - Klaassen, Kristel
AU  - Stanković, Sara
AU  - Pavlović, Sonja
AU  - Stojiljković, Maja
AU  - Anđelković, Marina
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1903
AB  - Primary ciliary dyskinesia (PCD) is a rare motor ciliopathy, which predominantly affects the lungs and
reproductive organs. PCD has a heterogeneous genetic basis, and it is necessary to analyze more than
40 causative genes in order to establish a precise diagnosis, which is essential for optimal treatment and
adequate genetic counseling. Five patients suspected of PCD were analyzed using next-generation
sequencing (NGS). The pathogenicity of the genetic variants was tested by in silico, qRT-PCR and
Western blot methods. Two newly discovered variants p.N450Lfs*6 and p.D562N in the DNAI1 gene
were detected in one patient suspected of PCD. The results of in silico prediction showed that the
p.N450Lfs*6 variant affects the structure of the 3D model of the protein, abolishes ligand binding sites
and post-translational modifications, thereby disrupting protein-protein interactions (PPI). The
p.D562N variant has no effect on the 3D structure of the protein, but affects the ligand binding site and
is located in the WD-40 domain, which most likely disrupts PPI. The results of the qRT-PCR method
showed a decreased expression level of DNAI1 mRNA by about 50% in the patient compared to the
control group, while Western blot analysis showed the presence of two protein products (699 ak and
455 ak). By analyzing the obtained results, it was concluded that the changes p.N450Lfs*6 and
p.D562N affect the length and quantity of the DNAI1 protein, leading to the loss of protein function
and are responsible for the occurrence of primary ciliary dyskinesia in the analyzed patient.
PB  - Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo
C3  - Genetics & Applications
T1  - Functional characterization of novel variants in the dnai1 gene in a patient with primary ciliary dyskinesia
IS  - 2 (Special edition)
SP  - 110
VL  - 7
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1903
ER  - 

@conference{
author = "Skakić, Anita and Stevanović, Nina and Spasovski, Vesna and Parezanović, Marina and Ugrin, Milena and Komazec, Jovana and Klaassen, Kristel and Stanković, Sara and Pavlović, Sonja and Stojiljković, Maja and Anđelković, Marina",
year = "2023",
abstract = "Primary ciliary dyskinesia (PCD) is a rare motor ciliopathy, which predominantly affects the lungs and
reproductive organs. PCD has a heterogeneous genetic basis, and it is necessary to analyze more than
40 causative genes in order to establish a precise diagnosis, which is essential for optimal treatment and
adequate genetic counseling. Five patients suspected of PCD were analyzed using next-generation
sequencing (NGS). The pathogenicity of the genetic variants was tested by in silico, qRT-PCR and
Western blot methods. Two newly discovered variants p.N450Lfs*6 and p.D562N in the DNAI1 gene
were detected in one patient suspected of PCD. The results of in silico prediction showed that the
p.N450Lfs*6 variant affects the structure of the 3D model of the protein, abolishes ligand binding sites
and post-translational modifications, thereby disrupting protein-protein interactions (PPI). The
p.D562N variant has no effect on the 3D structure of the protein, but affects the ligand binding site and
is located in the WD-40 domain, which most likely disrupts PPI. The results of the qRT-PCR method
showed a decreased expression level of DNAI1 mRNA by about 50% in the patient compared to the
control group, while Western blot analysis showed the presence of two protein products (699 ak and
455 ak). By analyzing the obtained results, it was concluded that the changes p.N450Lfs*6 and
p.D562N affect the length and quantity of the DNAI1 protein, leading to the loss of protein function
and are responsible for the occurrence of primary ciliary dyskinesia in the analyzed patient.",
publisher = "Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo",
journal = "Genetics & Applications",
title = "Functional characterization of novel variants in the dnai1 gene in a patient with primary ciliary dyskinesia",
number = "2 (Special edition)",
pages = "110",
volume = "7",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1903"
}

Skakić, A., Stevanović, N., Spasovski, V., Parezanović, M., Ugrin, M., Komazec, J., Klaassen, K., Stanković, S., Pavlović, S., Stojiljković, M.,& Anđelković, M.. (2023). Functional characterization of novel variants in the dnai1 gene in a patient with primary ciliary dyskinesia. in Genetics & Applications
Sarajevo : Institute for Genetic Engineering and Biotechnology, University of Sarajevo., 7(2 (Special edition)), 110.
https://hdl.handle.net/21.15107/rcub_imagine_1903

Skakić A, Stevanović N, Spasovski V, Parezanović M, Ugrin M, Komazec J, Klaassen K, Stanković S, Pavlović S, Stojiljković M, Anđelković M. Functional characterization of novel variants in the dnai1 gene in a patient with primary ciliary dyskinesia. in Genetics & Applications. 2023;7(2 (Special edition)):110.
https://hdl.handle.net/21.15107/rcub_imagine_1903 .

Skakić, Anita, Stevanović, Nina, Spasovski, Vesna, Parezanović, Marina, Ugrin, Milena, Komazec, Jovana, Klaassen, Kristel, Stanković, Sara, Pavlović, Sonja, Stojiljković, Maja, Anđelković, Marina, "Functional characterization of novel variants in the dnai1 gene in a patient with primary ciliary dyskinesia" in Genetics & Applications, 7, no. 2 (Special edition) (2023):110,
https://hdl.handle.net/21.15107/rcub_imagine_1903 .

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  - Parezanović, Marina
AU  - Anđelković, Marina
AU  - Stevanović, Nina
AU  - Klaassen, Kristel
AU  - Spasovski, Vesna
AU  - Ugrin, Milena
AU  - Komazec, Jovana
AU  - Stanković, Sara
AU  - Jocić, Nikola
AU  - Pavlović, Sonja
AU  - Stojiljković, Maja
AU  - Skakić, Anita
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/2121
AB  - Introduction: Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder characterized by fasting hypoglycemia and the accumulation of glycogen in the liver, kidneys and intestinal mucosa. Recent studies revealed that chronic endoplasmic reticulum (ER) stress and increased apoptosis
play a role in the progression of disease manifestations. Although dietary control is commonly utilized
to manage hypoglycemia, there is still a lack of effective pharmacological therapy. Therefore, the establishment of proper model system is essential for testing novel treatment approaches.
Methods: To create GSD-Ib in vitro model system, CRISPR/Cas9-knockout (KO) method was used to introduce a deletion in SLC37A4 gene in the FlpInHEK293 cells. Characterization of CRISPR/Cas9-KO model
system was performed using Sanger sequencing, RT-qPCR and Western Blot. Additionally, the expression analysis of ER stress and apoptotic markers was performed.
Results: Sanger sequencing confirmed the presence of c.14_100del in SLC37A4 gene. The expression
level of SLC37A4 was decreased to 26.8% in the SLC37A4-/- cell line compared to the SLC37A4 wild-type
along with Western blot analysis, which confirmed reduced target protein level in SLC37A4-/- clones. Furthermore, ER stress (ATF4, DDIT3, HSPA5, XBP1s) and apoptotic (BCL2, BAX, CASP3, CASP7) markers expression levels were significantly altered in SLC37A4-/- clones compared to wild-type, which proved that
we created a suitable GSD-Ib in vitro model system.
Conclusion: Utilizing CRISPR/Cas9 technology, we established cellular GSD-Ib modelsystem that mirrors
increased ER stress and apoptosis. This model system could be used to facilitate a comprehensive understanding of disease mechanisms and enable testing of potential treatment effectiveness.
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  - Application of CRISPR/cas9 technology for in vitro disease modelling in glycogen storage disease type IB
EP  - 65
SP  - 65
UR  - https://hdl.handle.net/21.15107/rcub_imagine_2121
ER  - 

@conference{
author = "Parezanović, Marina and Anđelković, Marina and Stevanović, Nina and Klaassen, Kristel and Spasovski, Vesna and Ugrin, Milena and Komazec, Jovana and Stanković, Sara and Jocić, Nikola and Pavlović, Sonja and Stojiljković, Maja and Skakić, Anita",
year = "2023",
abstract = "Introduction: Glycogen storage disease type Ib (GSD-Ib) is an autosomal recessive disorder characterized by fasting hypoglycemia and the accumulation of glycogen in the liver, kidneys and intestinal mucosa. Recent studies revealed that chronic endoplasmic reticulum (ER) stress and increased apoptosis
play a role in the progression of disease manifestations. Although dietary control is commonly utilized
to manage hypoglycemia, there is still a lack of effective pharmacological therapy. Therefore, the establishment of proper model system is essential for testing novel treatment approaches.
Methods: To create GSD-Ib in vitro model system, CRISPR/Cas9-knockout (KO) method was used to introduce a deletion in SLC37A4 gene in the FlpInHEK293 cells. Characterization of CRISPR/Cas9-KO model
system was performed using Sanger sequencing, RT-qPCR and Western Blot. Additionally, the expression analysis of ER stress and apoptotic markers was performed.
Results: Sanger sequencing confirmed the presence of c.14_100del in SLC37A4 gene. The expression
level of SLC37A4 was decreased to 26.8% in the SLC37A4-/- cell line compared to the SLC37A4 wild-type
along with Western blot analysis, which confirmed reduced target protein level in SLC37A4-/- clones. Furthermore, ER stress (ATF4, DDIT3, HSPA5, XBP1s) and apoptotic (BCL2, BAX, CASP3, CASP7) markers expression levels were significantly altered in SLC37A4-/- clones compared to wild-type, which proved that
we created a suitable GSD-Ib in vitro model system.
Conclusion: Utilizing CRISPR/Cas9 technology, we established cellular GSD-Ib modelsystem that mirrors
increased ER stress and apoptosis. This model system could be used to facilitate a comprehensive understanding of disease mechanisms and enable testing of potential treatment effectiveness.",
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 = "Application of CRISPR/cas9 technology for in vitro disease modelling in glycogen storage disease type IB",
pages = "65-65",
url = "https://hdl.handle.net/21.15107/rcub_imagine_2121"
}

Parezanović, M., Anđelković, M., Stevanović, N., Klaassen, K., Spasovski, V., Ugrin, M., Komazec, J., Stanković, S., Jocić, N., Pavlović, S., Stojiljković, M.,& Skakić, A.. (2023). Application of CRISPR/cas9 technology for in vitro disease modelling in glycogen storage disease type IB. 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., 65-65.
https://hdl.handle.net/21.15107/rcub_imagine_2121

Parezanović M, Anđelković M, Stevanović N, Klaassen K, Spasovski V, Ugrin M, Komazec J, Stanković S, Jocić N, Pavlović S, Stojiljković M, Skakić A. Application of CRISPR/cas9 technology for in vitro disease modelling in glycogen storage disease type IB. 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;:65-65.
https://hdl.handle.net/21.15107/rcub_imagine_2121 .

Parezanović, Marina, Anđelković, Marina, Stevanović, Nina, Klaassen, Kristel, Spasovski, Vesna, Ugrin, Milena, Komazec, Jovana, Stanković, Sara, Jocić, Nikola, Pavlović, Sonja, Stojiljković, Maja, Skakić, Anita, "Application of CRISPR/cas9 technology for in vitro disease modelling in glycogen storage disease type IB" 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):65-65,
https://hdl.handle.net/21.15107/rcub_imagine_2121 .