Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations

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dc.contributor.authorAykut, Ayça
dc.contributor.authorKaraca, Emin
dc.contributor.authorOnay, Hüseyin
dc.contributor.authorGökşen, Damla
dc.contributor.authorÇetinkalp, Şevki
dc.contributor.authorErsoy, Betül
dc.contributor.authorÇakır, Esra Papatya
dc.contributor.authorBüyükinan, Muammer
dc.contributor.authorKara, Cengiz
dc.contributor.authorAnık, Ahmet
dc.contributor.authorKırel, Birgül
dc.contributor.authorÖzen, Samim
dc.contributor.authorAtik, Tahir
dc.contributor.authorDarcan, Şükran
dc.contributor.authorÖzkınay, Ferda
dc.contributor.buuauthorEren, Erdal
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Endokrinolojisi Bilim Dalı.tr_TR
dc.contributor.orcid0000-0002-1684-1053tr_TR
dc.contributor.researcheridAAH-1155-2021tr_TR
dc.contributor.researcheridAAM-1734-2020tr_TR
dc.contributor.scopusid36113153400tr_TR
dc.date.accessioned2023-10-31T11:04:10Z
dc.date.available2023-10-31T11:04:10Z
dc.date.issued2018-01-30
dc.description.abstractMaturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients. Mutations in the GCK gene were identified in 79 out of 177. All mutant alleles were identified, including 45 different GCK mutations, 20 of which were novel.en_US
dc.description.sponsorshipEge Üniversitesitr_TR
dc.identifier.citationAykut, A. vd. (2018). ''Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations''. Gene, 641, 186-189.en_US
dc.identifier.endpage189tr_TR
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.pubmed29056535tr_TR
dc.identifier.scopus2-s2.0-85033435005tr_TR
dc.identifier.startpage186tr_TR
dc.identifier.urihttps://doi.org/10.1016/j.gene.2017.10.057
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S0378111917309034
dc.identifier.urihttp://hdl.handle.net/11452/34691
dc.identifier.volume641tr_TR
dc.identifier.wos000416616300025tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalGeneen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGenetics & heredityen_US
dc.subjectMODYen_US
dc.subjectGCK geneen_US
dc.subjectTurkish populationen_US
dc.subjectGlucokinase mutationsen_US
dc.subjectMissense mutationsen_US
dc.subjectDiabetes-mellitusen_US
dc.subjectYoung modyen_US
dc.subjectOnseten_US
dc.subjectChildrenen_US
dc.subjectIdentificationen_US
dc.subjectDiagnosisen_US
dc.subjectFamiliesen_US
dc.subject.emtreeGlucokinaseen_US
dc.subject.emtreeGerminal center kinasesen_US
dc.subject.emtreeProtein serine threonine kinaseen_US
dc.subject.emtreeAdolescenten_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeAmino acid sequenceen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeChilden_US
dc.subject.emtreeCohort analysisen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeFrameshift mutationen_US
dc.subject.emtreeGeneen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGene sequenceen_US
dc.subject.emtreeGenetic analysisen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeIndel mutationen_US
dc.subject.emtreeInfanten_US
dc.subject.emtreeMajor clinical studyen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMissense mutationen_US
dc.subject.emtreeMulticenter studyen_US
dc.subject.emtreeNon insulin dependent diabetes mellitusen_US
dc.subject.emtreePriority journalen_US
dc.subject.emtreeSingle nucleotide polymorphismen_US
dc.subject.emtreeTurk (people)en_US
dc.subject.emtreeAlleleen_US
dc.subject.emtreeClinical trialen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeMiddle ageden_US
dc.subject.emtreeMutationen_US
dc.subject.emtreeNon insulin dependent diabetes mellitusen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreePrevalenceen_US
dc.subject.emtreeYoung adulten_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAllelesen_US
dc.subject.meshChilden_US
dc.subject.meshChild, preschoolen_US
dc.subject.meshDiabetes mellitus, type 2en_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle ageden_US
dc.subject.meshMutationen_US
dc.subject.meshPrevalenceen_US
dc.subject.meshProtein-serine-threonine kinasesen_US
dc.subject.meshTurkeyen_US
dc.subject.meshYoung adulten_US
dc.subject.scopusMason-Type Diabetes; Type 3 Maturity-Onset Diabete of the Young; Renal Cysts and Diabetes Syndromeen_US
dc.subject.wosGenetics & heredityen_US
dc.titleAnalysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutationsen_US
dc.typeArticle
dc.wos.quartileQ4en_US

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