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Article

Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Aug 2007

Stern E, Strihan C, Potievsky O, Nimri R, Shalitin S, Cohen O, Shehadeh N, Weintrob N, Phillip M, Gat-Yablonski G

Abstract excerpt

Maturity onset diabetes of the young (MODY) is characterized by a primary defect in insulin secretion with non-ketotic hyperglycemia, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of autoantibodies. The aim of this study was to characterize the genetic basis of MODY in different ethnic groups in the Israeli population. Fifty-nine unrelated Israeli patients with MODY...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17937063
DOI: 10.1515/jpem.2007.20.8.909

Genes

GCK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel.PMID 17937063Read ↗

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).Semantic proximity Read ↗

Three novel mutations in MODY and its phenotype in three different Czech families.Semantic proximity Read ↗

Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1.Semantic proximity Read ↗

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).Semantic proximity Read ↗

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).Semantic proximity Read ↗

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.Semantic proximity Read ↗

Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.Semantic proximity Read ↗

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)Semantic proximity Read ↗

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.Semantic proximity Read ↗

Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).Semantic proximity Read ↗

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.Semantic proximity Read ↗

A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan.Semantic proximity Read ↗

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