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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.departmentTıp Fakültesi
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.contributor.departmentÇocuk Endokrinolojisi Bilim Dalı
dc.contributor.orcid0000-0002-1684-1053
dc.contributor.researcheridAAH-1155-2021
dc.contributor.researcheridAAM-1734-2020
dc.contributor.scopusid36113153400
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.
dc.description.sponsorshipEge Üniversitesi
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.
dc.identifier.endpage189
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.pubmed29056535
dc.identifier.scopus2-s2.0-85033435005
dc.identifier.startpage186
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.volume641
dc.identifier.wos000416616300025
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherElsevier
dc.relation.collaborationYurt içi
dc.relation.collaborationSanayi
dc.relation.journalGene
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectGenetics & heredity
dc.subjectMODY
dc.subjectGCK gene
dc.subjectTurkish population
dc.subjectGlucokinase mutations
dc.subjectMissense mutations
dc.subjectDiabetes-mellitus
dc.subjectYoung mody
dc.subjectOnset
dc.subjectChildren
dc.subjectIdentification
dc.subjectDiagnosis
dc.subjectFamilies
dc.subject.emtreeGlucokinase
dc.subject.emtreeGerminal center kinases
dc.subject.emtreeProtein serine threonine kinase
dc.subject.emtreeAdolescent
dc.subject.emtreeAdult
dc.subject.emtreeAmino acid sequence
dc.subject.emtreeArticle
dc.subject.emtreeChild
dc.subject.emtreeCohort analysis
dc.subject.emtreeFemale
dc.subject.emtreeFrameshift mutation
dc.subject.emtreeGene
dc.subject.emtreeGene mutation
dc.subject.emtreeGene sequence
dc.subject.emtreeGenetic analysis
dc.subject.emtreeHuman
dc.subject.emtreeIndel mutation
dc.subject.emtreeInfant
dc.subject.emtreeMajor clinical study
dc.subject.emtreeMale
dc.subject.emtreeMissense mutation
dc.subject.emtreeMulticenter study
dc.subject.emtreeNon insulin dependent diabetes mellitus
dc.subject.emtreePriority journal
dc.subject.emtreeSingle nucleotide polymorphism
dc.subject.emtreeTurk (people)
dc.subject.emtreeAllele
dc.subject.emtreeClinical trial
dc.subject.emtreeGenetics
dc.subject.emtreeMiddle aged
dc.subject.emtreeMutation
dc.subject.emtreeNon insulin dependent diabetes mellitus
dc.subject.emtreePreschool child
dc.subject.emtreePrevalence
dc.subject.emtreeYoung adult
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAlleles
dc.subject.meshChild
dc.subject.meshChild, preschool
dc.subject.meshDiabetes mellitus, type 2
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshMale
dc.subject.meshMiddle aged
dc.subject.meshMutation
dc.subject.meshPrevalence
dc.subject.meshProtein-serine-threonine kinases
dc.subject.meshTurkey
dc.subject.meshYoung adult
dc.subject.scopusMason-Type Diabetes; Type 3 Maturity-Onset Diabete of the Young; Renal Cysts and Diabetes Syndrome
dc.subject.wosGenetics & heredity
dc.titleAnalysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations
dc.typeArticle
dc.wos.quartileQ4
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı/Çocuk Endokrinolojisi Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS

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