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 . .

TY  - JOUR
AU  - Malešević, Milka
AU  - Vasiljević, Zorica
AU  - Sovtić, Aleksandar
AU  - Filipić, Brankica
AU  - Novović, Katarina
AU  - Kojić, Milan
AU  - Jovčić, Branko
PY  - 2017
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1085
AB  - Background: Burkholderia cenocepacia is considered one of the most problematic cystic fibrosis (CF) pathogens. Colonization prevalence in the Serbian CF population is high and virtually exclusively limited to a single highly transmissible clone of B. cenocepacia ST856 which is positive for both the B. cepacia epidemic strain marker (BCESM) and cable pilin, and is closely related to the epidemic strain CZ1 (ST32). Methods: Biofilm formation for 182 isolates, and adhesion to components of the host extracellular matrix, proteolytic activity, mucoidy and motility of selected ST856 representatives, as well as B. cenocepacia ST858 and ST859, and B. stabilis ST857, novel STs isolated from Serbian CF patients, were investigated in this study. The presence of the cepI, cepR, fliG, llpE, wbiI, and bcscV genes was analyzed. Results: Biofilm-formation ability of analyzed strains was poor under standard laboratory conditions, but changed in stress conditions (cold stress) and conditions that mimic CF milieu (increased CO2). All strains expressed ability to bind to collagen and fibronectin albeit with different intensity. Representatives of ST856 exhibited gelatinase activity. ST858, ST859 and 9/11 of ST856 genotypes were positive for swimming and twitching motility whereas ST857 was non-motile. Mucoidy was demonstrated in all ST856 genotypes, ST857 was semi-mucoid, and ST858 and ST859 were non-mucoid. Molecular analysis for major virulence factors revealed that ST856 and ST857 carried the six analyzed genes, while ST858 and ST859 were negative for the llpE gene. Conclusion: Variations in virulence phenotypes in different genotypes of epidemic B. cenocepacia ST856 clone, in vitro, could be a consequence of diversification driven by pathoadaptation. Diversity of epidemic clone genotypes virulence, could be challenging for accurate diagnosis and treatment, as well as for infection control.
PB  - Biomed Central Ltd, London
T2  - Antimicrobial Resistance and Infection Control
T1  - Virulence traits associated with Burkholderia cenocepacia ST856 epidemic strain isolated from cystic fibrosis patients
VL  - 6
DO  - 10.1186/s13756-017-0215-y
ER  - 

@article{
author = "Malešević, Milka and Vasiljević, Zorica and Sovtić, Aleksandar and Filipić, Brankica and Novović, Katarina and Kojić, Milan and Jovčić, Branko",
year = "2017",
abstract = "Background: Burkholderia cenocepacia is considered one of the most problematic cystic fibrosis (CF) pathogens. Colonization prevalence in the Serbian CF population is high and virtually exclusively limited to a single highly transmissible clone of B. cenocepacia ST856 which is positive for both the B. cepacia epidemic strain marker (BCESM) and cable pilin, and is closely related to the epidemic strain CZ1 (ST32). Methods: Biofilm formation for 182 isolates, and adhesion to components of the host extracellular matrix, proteolytic activity, mucoidy and motility of selected ST856 representatives, as well as B. cenocepacia ST858 and ST859, and B. stabilis ST857, novel STs isolated from Serbian CF patients, were investigated in this study. The presence of the cepI, cepR, fliG, llpE, wbiI, and bcscV genes was analyzed. Results: Biofilm-formation ability of analyzed strains was poor under standard laboratory conditions, but changed in stress conditions (cold stress) and conditions that mimic CF milieu (increased CO2). All strains expressed ability to bind to collagen and fibronectin albeit with different intensity. Representatives of ST856 exhibited gelatinase activity. ST858, ST859 and 9/11 of ST856 genotypes were positive for swimming and twitching motility whereas ST857 was non-motile. Mucoidy was demonstrated in all ST856 genotypes, ST857 was semi-mucoid, and ST858 and ST859 were non-mucoid. Molecular analysis for major virulence factors revealed that ST856 and ST857 carried the six analyzed genes, while ST858 and ST859 were negative for the llpE gene. Conclusion: Variations in virulence phenotypes in different genotypes of epidemic B. cenocepacia ST856 clone, in vitro, could be a consequence of diversification driven by pathoadaptation. Diversity of epidemic clone genotypes virulence, could be challenging for accurate diagnosis and treatment, as well as for infection control.",
publisher = "Biomed Central Ltd, London",
journal = "Antimicrobial Resistance and Infection Control",
title = "Virulence traits associated with Burkholderia cenocepacia ST856 epidemic strain isolated from cystic fibrosis patients",
volume = "6",
doi = "10.1186/s13756-017-0215-y"
}

Malešević, M., Vasiljević, Z., Sovtić, A., Filipić, B., Novović, K., Kojić, M.,& Jovčić, B.. (2017). Virulence traits associated with Burkholderia cenocepacia ST856 epidemic strain isolated from cystic fibrosis patients. in Antimicrobial Resistance and Infection Control
Biomed Central Ltd, London., 6.
https://doi.org/10.1186/s13756-017-0215-y

Malešević M, Vasiljević Z, Sovtić A, Filipić B, Novović K, Kojić M, Jovčić B. Virulence traits associated with Burkholderia cenocepacia ST856 epidemic strain isolated from cystic fibrosis patients. in Antimicrobial Resistance and Infection Control. 2017;6.
doi:10.1186/s13756-017-0215-y .

Malešević, Milka, Vasiljević, Zorica, Sovtić, Aleksandar, Filipić, Brankica, Novović, Katarina, Kojić, Milan, Jovčić, Branko, "Virulence traits associated with Burkholderia cenocepacia ST856 epidemic strain isolated from cystic fibrosis patients" in Antimicrobial Resistance and Infection Control, 6 (2017),
https://doi.org/10.1186/s13756-017-0215-y . .