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dc.contributor.authorCapan, Ozlem Yalcin
dc.contributor.authorAydin, Neslihan
dc.contributor.authorYilmaz, Temel
dc.contributor.authorBerber, Ergul
dc.date.accessioned2020-12-02T18:01:22Z
dc.date.available2020-12-02T18:01:22Z
dc.date.issued2020
dc.identifier.issn0009-8981
dc.identifier.issn1873-3492
dc.identifier.urihttps://doi.org/10.1016/j.cca.2020.07.005
dc.identifier.urihttp://hdl.handle.net/11446/3588
dc.descriptionWOS: 000582504300017en_US
dc.descriptionPubMed: 32645390en_US
dc.description.abstractMaturity-onset diabetes of the young (MODY) is a monogenic subtype of diabetes mellitus. Although 14 genes were associated to different subtypes of MODY, 30-40% of MODY patients have unidentified genetic mutations. in this study, we conducted whole exome sequencing (WES) in four Turkish MODY suspected patients in two families who do not carry any pathological variants in four frequent MODY genes (HNF1A, GCK, HNF1B and HNF4A). Initially, the variants were scanned for the known 14 MODY genes and a gene set related to glucose metabolism. Secondly, the destructive (frameshift, inframe insertion/deletion, initiator codon variant, splice acceptor/ donor variant, stop gained/lost) and missense variants in novel candidate genes shared by two patients of the same family were assessed by different bioinformatic tools. As a result, a total of three rare and novel probably pathogenic heterozygous missense variants (p.His307Gln in c-Myc, p.Asp129Asn in CDK4 and p.Gly107Ser in ARHGDIA) in candidate genes were identified in two families. This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion. This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of these variants.en_US
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK), TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [113S218]en_US
dc.description.sponsorshipResearch project was funded by Scientific and Technological Research Council of Turkey (TUBITAK), Turkey (Grant number: 113S218).en_US
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.identifier.doi10.1016/j.cca.2020.07.005en_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMaturity-onset diabetes of the youngen_US
dc.subjectWhole exome sequencingen_US
dc.subjectDigenic inheritanceen_US
dc.subjectGlucose metabolismen_US
dc.titleWhole exome sequencing reveals novel candidate gene variants for MODYen_US
dc.typearticleen_US
dc.relation.journalClinica Chimica Actaen_US
dc.departmentDBÜen_US
dc.identifier.volume510en_US
dc.identifier.startpage97en_US
dc.identifier.endpage104en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.department-temp[Capan, Ozlem Yalcin; Berber, Ergul] Istanbul Arel Univ, Dept Mol Biol & Genet, Istanbul, Turkey; [Aydin, Neslihan] Turkish Diabet Fdn, Istanbul, Turkey; [Yilmaz, Temel] Demiroglu Bilim Univ, Dept Endocrinol & Metab, Istanbul, Turkeyen_US


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