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...

Full description

Bibliographic Details
Main Authors:	Page, R, Hattersley, A, Levy, J, Barrow, B, Patel, P, Lo, D, Wainscoat, J, Permutt, M, Bell, G, Turner, R
Format:	Journal article
Language:	English
Published:	1995

Similar Items

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

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
by: S Schnyder, et al.
Published: (2005-06-01)

Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations
by: Gloyn, A, et al.
Published: (2003)

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

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
by: Tribble, N, et al.
Published: (2009)

Availability of type II diabetic families for detection of diabetes susceptibility genes.
by: Cook, J, et al.
Published: (1993)

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

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
by: Gloyn, A, et al.
Published: (2007)

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

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
by: Gloyn, A, et al.
Published: (2002)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
by: Ding, S, et al.
Published: (2010)

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

Distribution of type II diabetes in nuclear families.
by: Cook, J, et al.
Published: (1993)

Novel glucokinase mutation in a boy with maturity-onset diabetes of the young
by: Milenković Tatjana, et al.
Published: (2008-01-01)

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
by: Marina Capuano, et al.
Published: (2012-01-01)

The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
by: Beer, N, et al.
Published: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
by: Steele, A, et al.
Published: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
by: Steele, A, et al.
Published: (2011)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
by: Beer, N, et al.
Published: (2010)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
by: Valentinova, L, et al.
Published: (2011)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
by: Gasperikova, D, et al.
Published: (2008)

Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples
by: Ivan P. Gorlov, et al.
Published: (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
by: Ansari, Neda
Published: (2020)

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

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

Citrullination of glucokinase is linked to autoimmune diabetes
by: Mei-Ling Yang, et al.
Published: (2022-04-01)

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

Segregation analysis of NIDDM in Caucasian families.
by: Cook, J, et al.
Published: (1994)

Specific insulin and proinsulin secretion in glucokinase-deficient individuals
by: V.C. Pardini, et al.
Published: (1999-04-01)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
by: Li, Xiuzhen, et al.
Published: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
by: Xiuzhen Li, et al.
Published: (2018-03-01)

Variable phenotypes are associated with PMP22 missense mutations.
by: Russo, M, et al.
Published: (2011)

Clinical investigation of glucokinase activators for the restoration of glucose homeostasis in diabetes
by: Ping Li, et al.
Published: (2024-05-01)

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

Conformational transition pathway of R308K mutant glucokinase in the presence of the glucokinase activator YNKGKA4
by: Nanda Kumar Yellapu, et al.
Published: (2018-08-01)

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

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

Predicting the effect of missense mutations on protein function: analysis with Bayesian networks
by: Care Matthew A, et al.
Published: (2006-09-01)

Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations
by: Tai-Sung Lee, et al.
Published: (2006-01-01)

Permanent neonatal diabetes mellitus in an Indian infant due to a novel mutation in the glucokinase gene
by: Kagithapu Surender, et al.
Published: (2021-01-01)