Whole exome sequencing analysis for mutations in isolated type III biliary atresia patients

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dc.authoridGozukara Bag, Harika Gozde/0000-0003-1208-4072
dc.authoridGÜRÜNLÜOĞLU, Kubilay/0000-0002-8315-1765
dc.authoridDemircan, Mehmet/0000-0002-4022-1276
dc.authoridGURUNLUOGLU, SEMRA/0000-0002-9737-859X
dc.authorwosidGozukara Bag, Harika Gozde/ABG-7588-2020
dc.authorwosidceran özcan, canan ceran/B-1867-2018
dc.authorwosidGÜRÜNLÜOĞLU, Kubilay/AAO-5631-2020
dc.authorwosidDemircan, Mehmet/B-1904-2008
dc.authorwosidceran ozcan, canan/HJZ-4187-2023
dc.contributor.authorGurunluoglu, Kubilay
dc.contributor.authorKoc, Ahmet
dc.contributor.authorDurmus, Kubra
dc.contributor.authorBag, Harika Gozukara
dc.contributor.authorCeran, Canan
dc.contributor.authorGurunluoglu, Semra
dc.contributor.authorYildiz, Turan
dc.date.accessioned2024-08-04T20:49:15Z
dc.date.available2024-08-04T20:49:15Z
dc.date.issued2020
dc.departmentİnönü Üniversitesien_US
dc.description.abstractAim of the study: Biliary atresia is an idiopathic, destructive disease that affects both extrahepatic and intrahepatic bile ducts with severe inflammation and manifests as progressive jaundice within the first few months of life. In this study, we aimed to investigate the significance of genetic mutations in the onset of biliary atresia disease. Material and methods: With the approval of the ethics committee and parental consent, blood was taken from patients to obtain their DNA, and the study commenced. In this prospective study, we examined the DNA of 10 patients with no disease other than biliary atresia, and an exome sequence analysis was performed with the new-generation DNA sequencing method. The genetic structure of biliary atresia disease was examined by statistical analysis of the mutations, which were determined according to the reference DNA sequencing. Results: In the exome sequence analysis, the number of mutations detected among the patients changed significantly; the lowest number was 12,591, and the maximum was 19,863. By examining these mutations, we identified the mutated genes that were common to all patients. Conclusions: In this study, the highest mutation rates were detected in the PRIM2 and MAP2K3 genes. These genes have not previously been associated with biliary atresia.en_US
dc.description.sponsorshipInonu University Scientific Research Projects Coordination Unit [TSA-2018-1296]en_US
dc.description.sponsorshipThis project has been financed by Inonu University Scientific Research Projects Coordination Unit by TSA-2018-1296 project code.en_US
dc.identifier.doi10.5114/ceh.2020.102156
dc.identifier.endpage353en_US
dc.identifier.issn2392-1099
dc.identifier.issn2449-8238
dc.identifier.issue4en_US
dc.identifier.pmid33511283en_US
dc.identifier.scopus2-s2.0-85099921760en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage347en_US
dc.identifier.urihttps://doi.org/10.5114/ceh.2020.102156
dc.identifier.urihttps://hdl.handle.net/11616/99732
dc.identifier.volume6en_US
dc.identifier.wosWOS:000615582500009en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTermedia Publishing House Ltden_US
dc.relation.ispartofClinical and Experimental Hepatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectbiliary atresiaen_US
dc.subjectDNAen_US
dc.subjectexome sequencing analysisen_US
dc.subjectmutationen_US
dc.subjectgeneticen_US
dc.titleWhole exome sequencing analysis for mutations in isolated type III biliary atresia patientsen_US
dc.typeArticleen_US

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