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...

Ամբողջական նկարագրություն

Մատենագիտական մանրամասներ
Հիմնական հեղինակներ:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
Ձևաչափ:	Journal article
Լեզու:	English
Հրապարակվել է:	2008

Նմանատիպ նյութեր

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
‌: Gloyn, A, և այլն
Հրապարակվել է: (2007)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
‌: Valentinova, L, և այլն
Հրապարակվել է: (2011)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
‌: Gasperikova, D, և այլն
Հրապարակվել է: (2008)

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
‌: Christesen, H, և այլն
Հրապարակվել է: (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
‌: Gasperikova, D, և այլն
Հրապարակվել է: (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.
‌: Gasperíková, D, և այլն
Հրապարակվել է: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
‌: Turkkahraman, D, և այլն
Հրապարակվել է: (2008)

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

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis
‌: Yasmin Abu Aqel, և այլն
Հրապարակվել է: (2024-09-01)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
‌: Gloyn, A, և այլն
Հրապարակվել է: (2006)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
‌: Thomson, K, և այլն
Հրապարակվել է: (2003)

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
‌: Marina Capuano, և այլն
Հրապարակվել է: (2012-01-01)

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
‌: Osbak, K, և այլն
Հրապարակվել է: (2009)

Analysis of upstream promoter region and corresponding 5’ UTR of glucokinase (GCK) gene in horse breeds
‌: L. Minieri, և այլն
Հրապարակվել է: (2010-04-01)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
‌: Gloyn, A, և այլն
Հրապարակվել է: (2009)

Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
‌: Beer, N, և այլն
Հրապարակվել է: (2009)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
‌: Valentinova, L, և այլն
Հրապարակվել է: (2012)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
‌: van de Bunt, M, և այլն
Հրապարակվել է: (2008)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
‌: E. A. Sechko, և այլն
Հրապարակվել է: (2022-05-01)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
‌: Li, Xiuzhen, և այլն
Հրապարակվել է: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
‌: Xiuzhen Li, և այլն
Հրապարակվել է: (2018-03-01)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
‌: Gloyn, A, և այլն
Հրապարակվել է: (2007)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
‌: Ding, S, և այլն
Հրապարակվել է: (2010)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
‌: Lucia Valentínová, և այլն
Հրապարակվել է: (2012-01-01)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
‌: Tribble, N, և այլն
Հրապարակվել է: (2009)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
‌: Steele, A, և այլն
Հրապարակվել է: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
‌: Steele, A, և այլն
Հրապարակվել է: (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.
‌: Beer, N, և այլն
Հրապարակվել է: (2012)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
‌: Rees, MG, և այլն
Հրապարակվել է: (2014)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
‌: Chakera, A, և այլն
Հրապարակվել է: (2014)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
‌: Raimondo, A, և այլն
Հրապարակվել է: (2014)

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
‌: N. H. Birkebæk, և այլն
Հրապարակվել է: (2011-01-01)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
‌: Gloyn, A, և այլն
Հրապարակվել է: (2002)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
‌: Matthew G Rees, և այլն
Հրապարակվել է: (2014-01-01)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
‌: Beer, N, և այլն
Հրապարակվել է: (2010)

Catalytic instability of the glucokinase MODY-2 mutants V62M and G72R in pancreatic beta cells
‌: Arden, C, և այլն
Հրապարակվել է: (2006)

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
‌: Beer, N, և այլն
Հրապարակվել է: (2009)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
‌: Tongtong Dai, և այլն
Հրապարակվել է: (2023-04-01)

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
‌: Minton, J, և այլն
Հրապարակվել է: (2007)

Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
‌: Mustafa Altan, և այլն
Հրապարակվել է: (2020-03-01)