Minić, Predrag

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orcid::0000-0003-2578-190X
  • Minić, Predrag (5)
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Author's Bibliography

Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia

Stevanović, Nina; Skakić, Anita; Minić, Predrag; Sovtić, Aleksandar; Stojiljković, Maja; Pavlović, Sonja; Anđelković, Marina

(MDPI, Basel, 2021)

TY  - JOUR
AU  - Stevanović, Nina
AU  - Skakić, Anita
AU  - Minić, Predrag
AU  - Sovtić, Aleksandar
AU  - Stojiljković, Maja
AU  - Pavlović, Sonja
AU  - Anđelković, Marina
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1456
AB  - Primary ciliary dyskinesia (PCD) is a disease caused by impaired function of motile cilia. PCD mainly affects the lungs and reproductive organs. Inheritance is autosomal recessive and X-linked. PCD patients have diverse clinical manifestations, thus making the establishment of proper diagnosis challenging. The utility of next-generation sequencing (NGS) technology for diagnostic purposes allows for better understanding of the PCD genetic background. However, identification of specific disease-causing variants is difficult. The main aim of this study was to create a unique guideline that will enable the standardization of the assessment of novel genetic variants within PCD-associated genes. The designed pipeline consists of three main steps: (1) sequencing, detection, and identification of genes/variants; (2) classification of variants according to their effect; and (3) variant characterization using in silico structural and functional analysis. The pipeline was validated through the analysis of the variants detected in a well-known PCD disease-causing gene (DNAI1) and the novel candidate gene (SPAG16). The application of this pipeline resulted in identification of potential disease-causing variants, as well as validation of the variants pathogenicity, through their analysis on transcriptional, translational, and posttranslational levels. The application of this pipeline leads to the confirmation of PCD diagnosis and enables a shift from candidate to PCD disease-causing gene.
PB  - MDPI, Basel
T2  - International Journal of Molecular Sciences
T1  - Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia
IS  - 16
VL  - 22
DO  - 10.3390/ijms22168821
ER  - 
@article{
author = "Stevanović, Nina and Skakić, Anita and Minić, Predrag and Sovtić, Aleksandar and Stojiljković, Maja and Pavlović, Sonja and Anđelković, Marina",
year = "2021",
abstract = "Primary ciliary dyskinesia (PCD) is a disease caused by impaired function of motile cilia. PCD mainly affects the lungs and reproductive organs. Inheritance is autosomal recessive and X-linked. PCD patients have diverse clinical manifestations, thus making the establishment of proper diagnosis challenging. The utility of next-generation sequencing (NGS) technology for diagnostic purposes allows for better understanding of the PCD genetic background. However, identification of specific disease-causing variants is difficult. The main aim of this study was to create a unique guideline that will enable the standardization of the assessment of novel genetic variants within PCD-associated genes. The designed pipeline consists of three main steps: (1) sequencing, detection, and identification of genes/variants; (2) classification of variants according to their effect; and (3) variant characterization using in silico structural and functional analysis. The pipeline was validated through the analysis of the variants detected in a well-known PCD disease-causing gene (DNAI1) and the novel candidate gene (SPAG16). The application of this pipeline resulted in identification of potential disease-causing variants, as well as validation of the variants pathogenicity, through their analysis on transcriptional, translational, and posttranslational levels. The application of this pipeline leads to the confirmation of PCD diagnosis and enables a shift from candidate to PCD disease-causing gene.",
publisher = "MDPI, Basel",
journal = "International Journal of Molecular Sciences",
title = "Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia",
number = "16",
volume = "22",
doi = "10.3390/ijms22168821"
}
Stevanović, N., Skakić, A., Minić, P., Sovtić, A., Stojiljković, M., Pavlović, S.,& Anđelković, M.. (2021). Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia. in International Journal of Molecular Sciences
MDPI, Basel., 22(16).
https://doi.org/10.3390/ijms22168821
Stevanović N, Skakić A, Minić P, Sovtić A, Stojiljković M, Pavlović S, Anđelković M. Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia. in International Journal of Molecular Sciences. 2021;22(16).
doi:10.3390/ijms22168821 .
Stevanović, Nina, Skakić, Anita, Minić, Predrag, Sovtić, Aleksandar, Stojiljković, Maja, Pavlović, Sonja, Anđelković, Marina, "Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia" in International Journal of Molecular Sciences, 22, no. 16 (2021),
https://doi.org/10.3390/ijms22168821 . .
2
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Značaj genomskog profilisanja za diferencijalnu dijagnozu pedijatrijskih bolesnika sa bolestima pluća suspektnih na ciliopatije

Anđelković, Marina; Spasovski, Vesna; Vreća, Miša; Sovtić, Aleksandar; Rodić, Milan; Komazec, Jovana; Pavlović, Sonja; Minić, Predrag

(Srpsko lekarsko društvo, Beograd, 2019)

TY  - JOUR
AU  - Anđelković, Marina
AU  - Spasovski, Vesna
AU  - Vreća, Miša
AU  - Sovtić, Aleksandar
AU  - Rodić, Milan
AU  - Komazec, Jovana
AU  - Pavlović, Sonja
AU  - Minić, Predrag
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1260
AB  - Uvod/Cilj Izmenjena funkcija aksonemalne strukture dovodi do ciliopatija (motornih i senzornih), koje su do sada povezane sa brojnim pedijatrijskim poremećajima, uključujući i respiratorne. Primarna cilijarna diskinezija (PCD) najčešća je ciliopatija, koja nastaje kao posledica poremećaja u motornim cilijama. Promenjena struktura i/ ili funkcija motornih cilija dovodi do neonatalnog respiratornog distresa, hroničnog vlažnog kašlja, simptoma nazalne sekrecije, bronhoektazija, hronične upale sinusa i uha, a 50% bolesnika ima i situs inversus. Ovi simptomi su prilično uobičajeni kod male dece i u drugim stanjima; stoga je uspostavljanje precizne dijagnoze otežano. Cilj ovog istraživanja je ukazivanje na značaj genomskog profilisanja bolesnika i dizajniranje strategije za genetičku analizu podataka kod bolesnika suspektnih na ciliopatije sa kliničkom slikom sličnom drugim bolestima pluća. Metode Sproveli smo bioinformatičku analizu podataka dobijenih metodom sekvenciranja nove generacije 21 bolesnika sa potvrđenom ili suspektnom dijagnozom PCD-a. Analizirano je 93 gena: 29 PCD gena, 45 gena asociranih sa pojedinačnim simptomima plućnih bolesti i 19 gena asociranih sa senzornim ciliopatijama. Rezultati Dizajnirani algoritam za genetičku analizu NAM je omogućio da potvrdimo kliničku i uspostavimo genetičku dijagnozu kod 17/21 (80,95%) bolesnika, među kojima je 11/21 (52,38%) PCD bolesnika. Kod 3/21 (14,28%) bolesnika detektovane su monoalelske varijante u PCD genima, kod 6/21 (28,57%) bolesnika detektovane su varijante u genima relevantnim za druga plućna oboljenja, dok je kod 1/21 (4,76%) bolesnika genetička osnovna bolesti ostala nerazjašnjena. Zaključak Dizajniranje strategije za lakše i brže uspostavljanje konačne dijagnoze ciliopatija je obavezno i uključuje i kliničku i genetičku potvrdu bolesti.
AB  - Introduction/Objective Dysfunction of the axonemal structure leads to ciliopathies. Sensory and mo-tile ciliopathies have been associated with numerous pediatric diseases, including respiratory diseases. Primary ciliary dyskinesia (PCD) is ciliopathy linked to the dysfunction of motile cilia. Motile ciliary dys-function in childhood leads to chronic rhinosinusitis, persistent cough, neonatal respiratory distress, bronchiectasis, and situs inversus (SI) have 50% of patients. These symptoms are common among pediatric lung diseases, which additionally makes it difficult to establish the accurate diagnosis. The aim of the study was to point out the significance of genomic profiling for patients with suspected ciliopathies and to design a strategy for genomic analysis relevant for differential diagnosis of lung disease patients with suspected ciliopathies. Methods We conducted a bioinformatic analysis of data generated by New Generation Sequencing (NGS) approach of 21 patients with final or suspected diagnosis of PCD. It was analyzed 93 genes: 29 PCD genes, 45 genes related to individual symptoms of lung diseases, and 19 genes related to sensory ciliopathies. Results the algorithm we have designed, enabled us to establish the clinical and genetic diagnosis for 17/21 (80.95%) patients, among which 11/21 (52.38%) were PCD patients. In 3/21 (14.28%) patients we detected monoallelic variants in PCD disease-causing genes. In 6/21 (28.57%) patients, variants in genes for other pulmonary diseases were detected, and for one patient, genetic background of disease remained unclear. Conclusion an improved strategy for easier and faster establishment of final diagnosis of ciliopathies is mandatory and includes both, clinical and genetic confirmation of disease.
PB  - Srpsko lekarsko društvo, Beograd
T2  - Srpski arhiv za celokupno lekarstvo
T1  - Značaj genomskog profilisanja za diferencijalnu dijagnozu pedijatrijskih bolesnika sa bolestima pluća suspektnih na ciliopatije
T1  - The importance of genomic profiling for differential diagnosis of pediatric lung disease patients with suspected ciliopathies
EP  - 166
IS  - 3-4
SP  - 160
VL  - 147
DO  - 10.2298/SARH181012012A
ER  - 
@article{
author = "Anđelković, Marina and Spasovski, Vesna and Vreća, Miša and Sovtić, Aleksandar and Rodić, Milan and Komazec, Jovana and Pavlović, Sonja and Minić, Predrag",
year = "2019",
abstract = "Uvod/Cilj Izmenjena funkcija aksonemalne strukture dovodi do ciliopatija (motornih i senzornih), koje su do sada povezane sa brojnim pedijatrijskim poremećajima, uključujući i respiratorne. Primarna cilijarna diskinezija (PCD) najčešća je ciliopatija, koja nastaje kao posledica poremećaja u motornim cilijama. Promenjena struktura i/ ili funkcija motornih cilija dovodi do neonatalnog respiratornog distresa, hroničnog vlažnog kašlja, simptoma nazalne sekrecije, bronhoektazija, hronične upale sinusa i uha, a 50% bolesnika ima i situs inversus. Ovi simptomi su prilično uobičajeni kod male dece i u drugim stanjima; stoga je uspostavljanje precizne dijagnoze otežano. Cilj ovog istraživanja je ukazivanje na značaj genomskog profilisanja bolesnika i dizajniranje strategije za genetičku analizu podataka kod bolesnika suspektnih na ciliopatije sa kliničkom slikom sličnom drugim bolestima pluća. Metode Sproveli smo bioinformatičku analizu podataka dobijenih metodom sekvenciranja nove generacije 21 bolesnika sa potvrđenom ili suspektnom dijagnozom PCD-a. Analizirano je 93 gena: 29 PCD gena, 45 gena asociranih sa pojedinačnim simptomima plućnih bolesti i 19 gena asociranih sa senzornim ciliopatijama. Rezultati Dizajnirani algoritam za genetičku analizu NAM je omogućio da potvrdimo kliničku i uspostavimo genetičku dijagnozu kod 17/21 (80,95%) bolesnika, među kojima je 11/21 (52,38%) PCD bolesnika. Kod 3/21 (14,28%) bolesnika detektovane su monoalelske varijante u PCD genima, kod 6/21 (28,57%) bolesnika detektovane su varijante u genima relevantnim za druga plućna oboljenja, dok je kod 1/21 (4,76%) bolesnika genetička osnovna bolesti ostala nerazjašnjena. Zaključak Dizajniranje strategije za lakše i brže uspostavljanje konačne dijagnoze ciliopatija je obavezno i uključuje i kliničku i genetičku potvrdu bolesti., Introduction/Objective Dysfunction of the axonemal structure leads to ciliopathies. Sensory and mo-tile ciliopathies have been associated with numerous pediatric diseases, including respiratory diseases. Primary ciliary dyskinesia (PCD) is ciliopathy linked to the dysfunction of motile cilia. Motile ciliary dys-function in childhood leads to chronic rhinosinusitis, persistent cough, neonatal respiratory distress, bronchiectasis, and situs inversus (SI) have 50% of patients. These symptoms are common among pediatric lung diseases, which additionally makes it difficult to establish the accurate diagnosis. The aim of the study was to point out the significance of genomic profiling for patients with suspected ciliopathies and to design a strategy for genomic analysis relevant for differential diagnosis of lung disease patients with suspected ciliopathies. Methods We conducted a bioinformatic analysis of data generated by New Generation Sequencing (NGS) approach of 21 patients with final or suspected diagnosis of PCD. It was analyzed 93 genes: 29 PCD genes, 45 genes related to individual symptoms of lung diseases, and 19 genes related to sensory ciliopathies. Results the algorithm we have designed, enabled us to establish the clinical and genetic diagnosis for 17/21 (80.95%) patients, among which 11/21 (52.38%) were PCD patients. In 3/21 (14.28%) patients we detected monoallelic variants in PCD disease-causing genes. In 6/21 (28.57%) patients, variants in genes for other pulmonary diseases were detected, and for one patient, genetic background of disease remained unclear. Conclusion an improved strategy for easier and faster establishment of final diagnosis of ciliopathies is mandatory and includes both, clinical and genetic confirmation of disease.",
publisher = "Srpsko lekarsko društvo, Beograd",
journal = "Srpski arhiv za celokupno lekarstvo",
title = "Značaj genomskog profilisanja za diferencijalnu dijagnozu pedijatrijskih bolesnika sa bolestima pluća suspektnih na ciliopatije, The importance of genomic profiling for differential diagnosis of pediatric lung disease patients with suspected ciliopathies",
pages = "166-160",
number = "3-4",
volume = "147",
doi = "10.2298/SARH181012012A"
}
Anđelković, M., Spasovski, V., Vreća, M., Sovtić, A., Rodić, M., Komazec, J., Pavlović, S.,& Minić, P.. (2019). Značaj genomskog profilisanja za diferencijalnu dijagnozu pedijatrijskih bolesnika sa bolestima pluća suspektnih na ciliopatije. in Srpski arhiv za celokupno lekarstvo
Srpsko lekarsko društvo, Beograd., 147(3-4), 160-166.
https://doi.org/10.2298/SARH181012012A
Anđelković M, Spasovski V, Vreća M, Sovtić A, Rodić M, Komazec J, Pavlović S, Minić P. Značaj genomskog profilisanja za diferencijalnu dijagnozu pedijatrijskih bolesnika sa bolestima pluća suspektnih na ciliopatije. in Srpski arhiv za celokupno lekarstvo. 2019;147(3-4):160-166.
doi:10.2298/SARH181012012A .
Anđelković, Marina, Spasovski, Vesna, Vreća, Miša, Sovtić, Aleksandar, Rodić, Milan, Komazec, Jovana, Pavlović, Sonja, Minić, Predrag, "Značaj genomskog profilisanja za diferencijalnu dijagnozu pedijatrijskih bolesnika sa bolestima pluća suspektnih na ciliopatije" in Srpski arhiv za celokupno lekarstvo, 147, no. 3-4 (2019):160-166,
https://doi.org/10.2298/SARH181012012A . .
1
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The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases

Anđelković, Marina; Minić, Predrag; Vreca, M.; Stojiljković, Maja; Skakić, Anita; Sovtić, A.; Rodić, M.; Skodrić-Trifunović, V.; Marić, N.; Visekruna, J.; Spasovski, Vesna; Pavlović, Sonja

(Nature Publishing Group, London, 2019)

TY  - CONF
AU  - Anđelković, Marina
AU  - Minić, Predrag
AU  - Vreca, M.
AU  - Stojiljković, Maja
AU  - Skakić, Anita
AU  - Sovtić, A.
AU  - Rodić, M.
AU  - Skodrić-Trifunović, V.
AU  - Marić, N.
AU  - Visekruna, J.
AU  - Spasovski, Vesna
AU  - Pavlović, Sonja
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1228
PB  - Nature Publishing Group, London
C3  - European Journal of Human Genetics
T1  - The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases
EP  - 90
SP  - 89
VL  - 27
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1228
ER  - 
@conference{
author = "Anđelković, Marina and Minić, Predrag and Vreca, M. and Stojiljković, Maja and Skakić, Anita and Sovtić, A. and Rodić, M. and Skodrić-Trifunović, V. and Marić, N. and Visekruna, J. and Spasovski, Vesna and Pavlović, Sonja",
year = "2019",
publisher = "Nature Publishing Group, London",
journal = "European Journal of Human Genetics",
title = "The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases",
pages = "90-89",
volume = "27",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1228"
}
Anđelković, M., Minić, P., Vreca, M., Stojiljković, M., Skakić, A., Sovtić, A., Rodić, M., Skodrić-Trifunović, V., Marić, N., Visekruna, J., Spasovski, V.,& Pavlović, S.. (2019). The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases. in European Journal of Human Genetics
Nature Publishing Group, London., 27, 89-90.
https://hdl.handle.net/21.15107/rcub_imagine_1228
Anđelković M, Minić P, Vreca M, Stojiljković M, Skakić A, Sovtić A, Rodić M, Skodrić-Trifunović V, Marić N, Visekruna J, Spasovski V, Pavlović S. The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases. in European Journal of Human Genetics. 2019;27:89-90.
https://hdl.handle.net/21.15107/rcub_imagine_1228 .
Anđelković, Marina, Minić, Predrag, Vreca, M., Stojiljković, Maja, Skakić, Anita, Sovtić, A., Rodić, M., Skodrić-Trifunović, V., Marić, N., Visekruna, J., Spasovski, Vesna, Pavlović, Sonja, "The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases" in European Journal of Human Genetics, 27 (2019):89-90,
https://hdl.handle.net/21.15107/rcub_imagine_1228 .

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

Anđelković, Marina; Minić, Predrag; Vreca, Misa; Stojiljković, Maja; Skakić, Anita; Sovtić, Aleksandar; Rodić, Milan; Skodrić-Trifunović, Vesna; Marić, Nina; Visekruna, Jelena; Spasovski, Vesna; Pavlović, Sonja

(Public Library Science, San Francisco, 2018)

TY  - JOUR
AU  - Anđelković, Marina
AU  - Minić, Predrag
AU  - Vreca, Misa
AU  - Stojiljković, Maja
AU  - Skakić, Anita
AU  - Sovtić, Aleksandar
AU  - Rodić, Milan
AU  - Skodrić-Trifunović, Vesna
AU  - Marić, Nina
AU  - Visekruna, Jelena
AU  - Spasovski, Vesna
AU  - Pavlović, Sonja
PY  - 2018
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1146
AB  - Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD. By detecting 18 (12 novel) potentially pathogenic genetic variants, we established the genetic cause of 11 (9 unrelated) patients. Genetic variants were detected in six PCD disease-causing genes, as well as in SPAG16 and SPAG17 genes, that were not detected in PCD patients so far, but were related to some symptoms of PCD. The most frequently mutated gene in our cohort was DNAH5 (27.77%). Identified variants were in homozygous, compound heterozygous and trans-heterozygous state. For detailed characterization of one novel homozygous genetic variant in DNAI1 gene (c. 947_948insG, p. Thr318TyrfsTer11), RT-qPCR and Western Blot analysis were performed. Molecular diagnostic approach applied in this study enables analysis of 29 PCD disease-causing and related genes. It resulted in mutation detection rate of 50% and enabled discovery of twelve novel mutations and pointed two possible novel PCD candidate genes.
PB  - Public Library Science, San Francisco
T2  - PLoS One
T1  - Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants
IS  - 10
VL  - 13
DO  - 10.1371/journal.pone.0205422
ER  - 
@article{
author = "Anđelković, Marina and Minić, Predrag and Vreca, Misa and Stojiljković, Maja and Skakić, Anita and Sovtić, Aleksandar and Rodić, Milan and Skodrić-Trifunović, Vesna and Marić, Nina and Visekruna, Jelena and Spasovski, Vesna and Pavlović, Sonja",
year = "2018",
abstract = "Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD. By detecting 18 (12 novel) potentially pathogenic genetic variants, we established the genetic cause of 11 (9 unrelated) patients. Genetic variants were detected in six PCD disease-causing genes, as well as in SPAG16 and SPAG17 genes, that were not detected in PCD patients so far, but were related to some symptoms of PCD. The most frequently mutated gene in our cohort was DNAH5 (27.77%). Identified variants were in homozygous, compound heterozygous and trans-heterozygous state. For detailed characterization of one novel homozygous genetic variant in DNAI1 gene (c. 947_948insG, p. Thr318TyrfsTer11), RT-qPCR and Western Blot analysis were performed. Molecular diagnostic approach applied in this study enables analysis of 29 PCD disease-causing and related genes. It resulted in mutation detection rate of 50% and enabled discovery of twelve novel mutations and pointed two possible novel PCD candidate genes.",
publisher = "Public Library Science, San Francisco",
journal = "PLoS One",
title = "Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants",
number = "10",
volume = "13",
doi = "10.1371/journal.pone.0205422"
}
Anđelković, M., Minić, P., Vreca, M., Stojiljković, M., Skakić, A., Sovtić, A., Rodić, M., Skodrić-Trifunović, V., Marić, N., Visekruna, J., Spasovski, V.,& Pavlović, S.. (2018). Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. in PLoS One
Public Library Science, San Francisco., 13(10).
https://doi.org/10.1371/journal.pone.0205422
Anđelković M, Minić P, Vreca M, Stojiljković M, Skakić A, Sovtić A, Rodić M, Skodrić-Trifunović V, Marić N, Visekruna J, Spasovski V, Pavlović S. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. in PLoS One. 2018;13(10).
doi:10.1371/journal.pone.0205422 .
Anđelković, Marina, Minić, Predrag, Vreca, Misa, Stojiljković, Maja, Skakić, Anita, Sovtić, Aleksandar, Rodić, Milan, Skodrić-Trifunović, Vesna, Marić, Nina, Visekruna, Jelena, Spasovski, Vesna, Pavlović, Sonja, "Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants" in PLoS One, 13, no. 10 (2018),
https://doi.org/10.1371/journal.pone.0205422 . .
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29
2
23

Burkholderia cepacia complex in Serbian patients with cystic fibrosis: prevalence and molecular epidemiology

Vasiljević, Z. V.; Novović, Katarina; Kojić, Milan; Minić, Predrag; Sovtić, A.; Đukić, S.; Jovčić, Branko

(Springer, New York, 2016)

TY  - JOUR
AU  - Vasiljević, Z. V.
AU  - Novović, Katarina
AU  - Kojić, Milan
AU  - Minić, Predrag
AU  - Sovtić, A.
AU  - Đukić, S.
AU  - Jovčić, Branko
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/908
AB  - The Burkholderia cepacia complex (Bcc) organisms remain significant pathogens in patients with cystic fibrosis (CF). This study was performed to evaluate the prevalence, epidemiological characteristics, and presence of molecular markers associated with virulence and transmissibility of the Bcc strains in the National CF Centre in Belgrade, Serbia. The Bcc isolates collected during the four-year study period (2010-2013) were further examined by 16 s rRNA gene, pulsed-field gel electrophoresis of genomic DNA, multilocus sequence typing analysis, and phylogenetic analysis based on concatenated sequence of seven alleles. Fifty out of 184 patients (27.2 %) were colonized with two Bcc species, B. cenocepacia (n = 49) and B. stabilis (n = 1). Thirty-four patients (18.5 %) had chronic colonization. Typing methods revealed a high level of similarity among Bcc isolates, indicating a person-to-person transmission or acquisition from a common source. New sequence types (STs) were identified, and none of the STs with an international distribution were found. One centre-specific ST, B. cenocepacia ST856, was highly dominant and shared by 48/50 (96 %) patients colonized by Bcc. This clone was characterized by PCR positivity for both the B. cepacia epidemic strain marker and cable pilin, and showed close genetic relatedness to the epidemic strain CZ1 (ST32). These results indicate that the impact of Bcc on airway colonization in the Serbian CF population is high and virtually exclusively limited to a single clone of B. cenocepacia. The presence of a highly transmissible clone and probable patient-to-patient spread was observed.
PB  - Springer, New York
T2  - European Journal of Clinical Microbiology & Infectious Diseases
T1  - Burkholderia cepacia complex in Serbian patients with cystic fibrosis: prevalence and molecular epidemiology
EP  - 1284
IS  - 8
SP  - 1277
VL  - 35
DO  - 10.1007/s10096-016-2662-4
ER  - 
@article{
author = "Vasiljević, Z. V. and Novović, Katarina and Kojić, Milan and Minić, Predrag and Sovtić, A. and Đukić, S. and Jovčić, Branko",
year = "2016",
abstract = "The Burkholderia cepacia complex (Bcc) organisms remain significant pathogens in patients with cystic fibrosis (CF). This study was performed to evaluate the prevalence, epidemiological characteristics, and presence of molecular markers associated with virulence and transmissibility of the Bcc strains in the National CF Centre in Belgrade, Serbia. The Bcc isolates collected during the four-year study period (2010-2013) were further examined by 16 s rRNA gene, pulsed-field gel electrophoresis of genomic DNA, multilocus sequence typing analysis, and phylogenetic analysis based on concatenated sequence of seven alleles. Fifty out of 184 patients (27.2 %) were colonized with two Bcc species, B. cenocepacia (n = 49) and B. stabilis (n = 1). Thirty-four patients (18.5 %) had chronic colonization. Typing methods revealed a high level of similarity among Bcc isolates, indicating a person-to-person transmission or acquisition from a common source. New sequence types (STs) were identified, and none of the STs with an international distribution were found. One centre-specific ST, B. cenocepacia ST856, was highly dominant and shared by 48/50 (96 %) patients colonized by Bcc. This clone was characterized by PCR positivity for both the B. cepacia epidemic strain marker and cable pilin, and showed close genetic relatedness to the epidemic strain CZ1 (ST32). These results indicate that the impact of Bcc on airway colonization in the Serbian CF population is high and virtually exclusively limited to a single clone of B. cenocepacia. The presence of a highly transmissible clone and probable patient-to-patient spread was observed.",
publisher = "Springer, New York",
journal = "European Journal of Clinical Microbiology & Infectious Diseases",
title = "Burkholderia cepacia complex in Serbian patients with cystic fibrosis: prevalence and molecular epidemiology",
pages = "1284-1277",
number = "8",
volume = "35",
doi = "10.1007/s10096-016-2662-4"
}
Vasiljević, Z. V., Novović, K., Kojić, M., Minić, P., Sovtić, A., Đukić, S.,& Jovčić, B.. (2016). Burkholderia cepacia complex in Serbian patients with cystic fibrosis: prevalence and molecular epidemiology. in European Journal of Clinical Microbiology & Infectious Diseases
Springer, New York., 35(8), 1277-1284.
https://doi.org/10.1007/s10096-016-2662-4
Vasiljević ZV, Novović K, Kojić M, Minić P, Sovtić A, Đukić S, Jovčić B. Burkholderia cepacia complex in Serbian patients with cystic fibrosis: prevalence and molecular epidemiology. in European Journal of Clinical Microbiology & Infectious Diseases. 2016;35(8):1277-1284.
doi:10.1007/s10096-016-2662-4 .
Vasiljević, Z. V., Novović, Katarina, Kojić, Milan, Minić, Predrag, Sovtić, A., Đukić, S., Jovčić, Branko, "Burkholderia cepacia complex in Serbian patients with cystic fibrosis: prevalence and molecular epidemiology" in European Journal of Clinical Microbiology & Infectious Diseases, 35, no. 8 (2016):1277-1284,
https://doi.org/10.1007/s10096-016-2662-4 . .
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