Clinical characteristics of subjects with a missense mutation in glucokinase.

Clinical characteristics of subjects with a missense mutation in glucokinase.

The clinical characteristics of subjects with a missense glucokinase mutation, gly299-->arg, were studied in a large pedigree, BX, initially characterized by some members having Maturity Onset Diabetes of the Young (MODY). Glucose tolerance, beta cell function and insulin sensitivity were mea...

Description complète

Détails bibliographiques
Auteurs principaux:	Page, R, Hattersley, A, Levy, J, Barrow, B, Patel, P, Lo, D, Wainscoat, J, Permutt, M, Bell, G, Turner, R
Format:	Journal article
Langue:	English
Publié:	1995

Documents similaires

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population.
par: Saker, P, et autres
Publié: (1996)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
par: S Schnyder, et autres
Publié: (2005-06-01)

Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations
par: Gloyn, A, et autres
Publié: (2003)

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
par: Gloyn, A, et autres
Publié: (2003)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
par: Tribble, N, et autres
Publié: (2009)

Availability of type II diabetic families for detection of diabetes susceptibility genes.
par: Cook, J, et autres
Publié: (1993)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
par: Thomson, K, et autres
Publié: (2003)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
par: Gloyn, A, et autres
Publié: (2007)

Drug resistance missense mutations in cancer are subject to evolutionary constraints.
par: Ran Friedman
Publié: (2013-01-01)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
par: Gloyn, A, et autres
Publié: (2002)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
par: Ding, S, et autres
Publié: (2010)

Association of low birth weight with beta cell function in the adult first degree relatives of non-insulin dependent diabetic subjects.
par: Cook, J, et autres
Publié: (1993)

Distribution of type II diabetes in nuclear families.
par: Cook, J, et autres
Publié: (1993)

Novel glucokinase mutation in a boy with maturity-onset diabetes of the young
par: Milenković Tatjana, et autres
Publié: (2008-01-01)

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
par: Marina Capuano, et autres
Publié: (2012-01-01)

The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
par: Beer, N, et autres
Publié: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
par: Steele, A, et autres
Publié: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
par: Steele, A, et autres
Publié: (2011)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
par: Beer, N, et autres
Publié: (2010)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
par: Valentinova, L, et autres
Publié: (2011)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
par: Gasperikova, D, et autres
Publié: (2008)

Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples
par: Ivan P. Gorlov, et autres
Publié: (2018-11-01)

Association of glucokinase, glucokinase regulator, glucose-6-phosphatase catalytic subunit 2 and melatonin receptor 1b genes polymorphisms with type 2 diabetic subjects
par: Ansari, Neda
Publié: (2020)

Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
par: Vits, L, et autres
Publié: (2006)

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
par: Gloyn, A, et autres
Publié: (2005)

Citrullination of glucokinase is linked to autoimmune diabetes
par: Mei-Ling Yang, et autres
Publié: (2022-04-01)

A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis
par: Carlos J. Pirola, et autres
Publié: (2018-09-01)

Segregation analysis of NIDDM in Caucasian families.
par: Cook, J, et autres
Publié: (1994)

Specific insulin and proinsulin secretion in glucokinase-deficient individuals
par: V.C. Pardini, et autres
Publié: (1999-04-01)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
par: Li, Xiuzhen, et autres
Publié: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
par: Xiuzhen Li, et autres
Publié: (2018-03-01)

Variable phenotypes are associated with PMP22 missense mutations.
par: Russo, M, et autres
Publié: (2011)

Clinical investigation of glucokinase activators for the restoration of glucose homeostasis in diabetes
par: Ping Li, et autres
Publié: (2024-05-01)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
par: Valentinova, L, et autres
Publié: (2012)

Conformational transition pathway of R308K mutant glucokinase in the presence of the glucokinase activator YNKGKA4
par: Nanda Kumar Yellapu, et autres
Publié: (2018-08-01)

Near-normalisation of diurnal glucose concentrations by continuous administration of glucagon-like peptide-1 (GLP-1) in subjects with NIDDM.
par: Rachman, J, et autres
Publié: (1997)

Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations
par: Thierry Nouspikel, et autres
Publié: (2022-02-01)

Predicting the effect of missense mutations on protein function: analysis with Bayesian networks
par: Care Matthew A, et autres
Publié: (2006-09-01)

Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations
par: Tai-Sung Lee, et autres
Publié: (2006-01-01)

Permanent neonatal diabetes mellitus in an Indian infant due to a novel mutation in the glucokinase gene
par: Kagithapu Surender, et autres
Publié: (2021-01-01)