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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
التنسيق:	Journal article
اللغة:	English
منشور في:	2008

مواد مشابهة

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
حسب: Gloyn, A, وآخرون
منشور في: (2007)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
حسب: Valentinova, L, وآخرون
منشور في: (2011)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
حسب: Gasperikova, D, وآخرون
منشور في: (2008)

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
حسب: Christesen, H, وآخرون
منشور في: (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
حسب: Gasperikova, D, وآخرون
منشور في: (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.
حسب: Gasperíková, D, وآخرون
منشور في: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
حسب: Turkkahraman, D, وآخرون
منشور في: (2008)

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

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis
حسب: Yasmin Abu Aqel, وآخرون
منشور في: (2024-09-01)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
حسب: Gloyn, A, وآخرون
منشور في: (2006)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
حسب: Thomson, K, وآخرون
منشور في: (2003)

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
حسب: Marina Capuano, وآخرون
منشور في: (2012-01-01)

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
حسب: Osbak, K, وآخرون
منشور في: (2009)

Analysis of upstream promoter region and corresponding 5’ UTR of glucokinase (GCK) gene in horse breeds
حسب: L. Minieri, وآخرون
منشور في: (2010-04-01)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
حسب: Gloyn, A, وآخرون
منشور في: (2009)

Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
حسب: Beer, N, وآخرون
منشور في: (2009)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
حسب: Valentinova, L, وآخرون
منشور في: (2012)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
حسب: van de Bunt, M, وآخرون
منشور في: (2008)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
حسب: E. A. Sechko, وآخرون
منشور في: (2022-05-01)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
حسب: Li, Xiuzhen, وآخرون
منشور في: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
حسب: Xiuzhen Li, وآخرون
منشور في: (2018-03-01)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
حسب: Gloyn, A, وآخرون
منشور في: (2007)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
حسب: Ding, S, وآخرون
منشور في: (2010)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
حسب: Lucia Valentínová, وآخرون
منشور في: (2012-01-01)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
حسب: Tribble, N, وآخرون
منشور في: (2009)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
حسب: Steele, A, وآخرون
منشور في: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
حسب: Steele, A, وآخرون
منشور في: (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.
حسب: Beer, N, وآخرون
منشور في: (2012)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
حسب: Rees, MG, وآخرون
منشور في: (2014)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
حسب: Chakera, A, وآخرون
منشور في: (2014)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
حسب: Raimondo, A, وآخرون
منشور في: (2014)

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
حسب: N. H. Birkebæk, وآخرون
منشور في: (2011-01-01)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
حسب: Gloyn, A, وآخرون
منشور في: (2002)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
حسب: Matthew G Rees, وآخرون
منشور في: (2014-01-01)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
حسب: Beer, N, وآخرون
منشور في: (2010)

Catalytic instability of the glucokinase MODY-2 mutants V62M and G72R in pancreatic beta cells
حسب: Arden, C, وآخرون
منشور في: (2006)

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
حسب: Beer, N, وآخرون
منشور في: (2009)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
حسب: Tongtong Dai, وآخرون
منشور في: (2023-04-01)

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
حسب: Minton, J, وآخرون
منشور في: (2007)

Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
حسب: Mustafa Altan, وآخرون
منشور في: (2020-03-01)