Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.

There are well-documented examples in the literature of where determining the genetic aetiology of a disorder has provided insights into important regulatory pathways and protein interactions, and, more recently, has led to improved treatment options for patients. The studies of monogenic forms of b...

תיאור מלא

מידע ביבליוגרפי
Main Authors:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
פורמט:	Journal article
שפה:	English
יצא לאור:	2008

פריטים דומים

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

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

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

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
מאת: Christesen, H, et al.
יצא לאור: (2008)

Identification of a Novel beta-Cell Glucokinase (GCK) Promoter Mutation (-71G > C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
מאת: Gasperikova, D, et al.
יצא לאור: (2009)

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
מאת: Gasperíková, D, et al.
יצא לאור: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
מאת: Turkkahraman, D, et al.
יצא לאור: (2008)

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
מאת: Gloyn, A
יצא לאור: (2003)

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis
מאת: Yasmin Abu Aqel, et al.
יצא לאור: (2024-09-01)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
מאת: Gloyn, A, et al.
יצא לאור: (2006)

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

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

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
מאת: Osbak, K, et al.
יצא לאור: (2009)

Analysis of upstream promoter region and corresponding 5’ UTR of glucokinase (GCK) gene in horse breeds
מאת: L. Minieri, et al.
יצא לאור: (2010-04-01)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
מאת: Gloyn, A, et al.
יצא לאור: (2009)

Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
מאת: Beer, N, et al.
יצא לאור: (2009)

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

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
מאת: van de Bunt, M, et al.
יצא לאור: (2008)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
מאת: E. A. Sechko, et al.
יצא לאור: (2022-05-01)

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

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

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
מאת: Gloyn, A, et al.
יצא לאור: (2007)

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

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
מאת: Lucia Valentínová, et al.
יצא לאור: (2012-01-01)

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

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

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

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
מאת: Beer, N, et al.
יצא לאור: (2012)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
מאת: Rees, MG, et al.
יצא לאור: (2014)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
מאת: Chakera, A, et al.
יצא לאור: (2014)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
מאת: Raimondo, A, et al.
יצא לאור: (2014)

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
מאת: N. H. Birkebæk, et al.
יצא לאור: (2011-01-01)

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

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
מאת: Matthew G Rees, et al.
יצא לאור: (2014-01-01)

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

Catalytic instability of the glucokinase MODY-2 mutants V62M and G72R in pancreatic beta cells
מאת: Arden, C, et al.
יצא לאור: (2006)

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
מאת: Beer, N, et al.
יצא לאור: (2009)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
מאת: Tongtong Dai, et al.
יצא לאור: (2023-04-01)

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
מאת: Minton, J, et al.
יצא לאור: (2007)

Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
מאת: Mustafa Altan, et al.
יצא לאור: (2020-03-01)