Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M210K
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GCK

NM_000162.5:p.M210K

Associated Papers

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

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › kinetics

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY.

Dai T et al.

Frontiers in Genetics, 2023

Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.

Bouldjennet F et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020

Molecular modeling and identification of novel glucokinase activators through stepwise virtual screening.

Behera PM et al.

Journal of Molecular Graphics & Modelling, 2015

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

The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.

Gozlan Y et al.

Pediatric Diabetes, 2012

[Long-term follow-up of permanent neonatal diabetes in Tunisian infant].

Ben Hamouda H et al.

Annales D'endocrinologie, 2010

Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.

Hussain K

Reviews in Endocrine & Metabolic Disorders, 2010

Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2).

van Bürck L et al.

American Journal of Physiology. Endocrinology and Metabolism, 2010

Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

Sagen JV et al.

Pediatric Diabetes, 2008

Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.

Rubio-Cabezas O et al.

Pediatric Diabetes, 2008

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

García-Herrero CM et al.

Diabetologia, 2007

From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

Sagen JV et al.

Diabetes, 2006

Permanent neonatal diabetes in an Asian infant.

Porter JR et al.

The Journal of Pediatrics, 2005

A new mouse model of type 2 diabetes, produced by N-ethyl-nitrosourea mutagenesis, is the result of a missense mutation in the glucokinase gene.

Toye AA et al.

Diabetes, 2004

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

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR et al.

Diabetes, 2003

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

Christesen HB et al.

Diabetes, 2002

Molecular etiologies of MODY and other early-onset forms of diabetes.

Shih DQ et al.

Current Diabetes Reports, 2002

Neonatal diabetes mellitus due to complete glucokinase deficiency.

Njølstad PR et al.

The New England Journal of Medicine, 2001

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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."