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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	2008

Eitemau Tebyg

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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