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...

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Bibliografiske detaljer
Main Authors:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
Format:	Journal article
Sprog:	English
Udgivet:	2008

Lignende værker

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

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

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

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
af: Christesen, H, et al.
Udgivet: (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
af: Gasperikova, D, et al.
Udgivet: (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.
af: Gasperíková, D, et al.
Udgivet: (2009)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
af: Steele, A, et al.
Udgivet: (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.
af: Beer, N, et al.
Udgivet: (2012)

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

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

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

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

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

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

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

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

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

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

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

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