Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T209M
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GCK

NM_000162.5:p.T209M

Associated Papers

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Dusatkova P et al.

Acta Diabetologica, 2022

A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Gaál Z et al.

Life (basel, Switzerland), 2021

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Zhou Y et al.

Endocrine Connections, 2020

Preliminary screening of mutations in the glucokinase gene of Chinese patients with gestational diabetes.

Wang Z et al.

Journal of Diabetes Investigation, 2018

GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.

Ping Xiao Y et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT et al.

Molecular Genetics and Metabolism, 2015

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G et al.

Molecular Genetics and Metabolism, 2014

Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.

Weinert LS et al.

Diabetes Research and Clinical Practice, 2014

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

Hyperglycaemia and β-cell antibodies: is it always pre-type 1 diabetes?

d'Annunzio G et al.

Diabetes Research and Clinical Practice, 2013

GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

Bonfig W et al.

Isrn Pediatrics, 2011

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S et al.

Pediatric Diabetes, 2010

Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.

Codner E et al.

Pediatric Diabetes, 2009

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

Estalella I et al.

Clinical Endocrinology, 2007

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL

Human Mutation, 2003

Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype.

Miller SP et al.

Diabetes, 1999

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.

Hattersley AT

Diabetic Medicine : a Journal of the British Diabetic Association, 1998

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

Velho G et al.

Diabetologia, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."