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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	2008

Ижил төстэй зүйлс

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
-н: Gloyn, A, зэрэг
Хэвлэсэн: (2007)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
-н: Valentinova, L, зэрэг
Хэвлэсэн: (2011)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
-н: Gasperikova, D, зэрэг
Хэвлэсэн: (2008)

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
-н: Christesen, H, зэрэг
Хэвлэсэн: (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
-н: Gasperikova, D, зэрэг
Хэвлэсэн: (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.
-н: Gasperíková, D, зэрэг
Хэвлэсэн: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
-н: Turkkahraman, D, зэрэг
Хэвлэсэн: (2008)

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

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis
-н: Yasmin Abu Aqel, зэрэг
Хэвлэсэн: (2024-09-01)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
-н: Gloyn, A, зэрэг
Хэвлэсэн: (2006)

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

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
-н: Marina Capuano, зэрэг
Хэвлэсэн: (2012-01-01)

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

Analysis of upstream promoter region and corresponding 5’ UTR of glucokinase (GCK) gene in horse breeds
-н: L. Minieri, зэрэг
Хэвлэсэн: (2010-04-01)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
-н: Gloyn, A, зэрэг
Хэвлэсэн: (2009)

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

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
-н: Valentinova, L, зэрэг
Хэвлэсэн: (2012)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
-н: van de Bunt, M, зэрэг
Хэвлэсэн: (2008)

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

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
-н: Li, Xiuzhen, зэрэг
Хэвлэсэн: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
-н: Xiuzhen Li, зэрэг
Хэвлэсэн: (2018-03-01)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
-н: Gloyn, A, зэрэг
Хэвлэсэн: (2007)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
-н: Ding, S, зэрэг
Хэвлэсэн: (2010)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
-н: Lucia Valentínová, зэрэг
Хэвлэсэн: (2012-01-01)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
-н: Tribble, N, зэрэг
Хэвлэсэн: (2009)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
-н: Steele, A, зэрэг
Хэвлэсэн: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
-н: Steele, A, зэрэг
Хэвлэсэн: (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.
-н: Beer, N, зэрэг
Хэвлэсэн: (2012)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
-н: Rees, MG, зэрэг
Хэвлэсэн: (2014)

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

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

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

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
-н: Gloyn, A, зэрэг
Хэвлэсэн: (2002)

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

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
-н: Beer, N, зэрэг
Хэвлэсэн: (2010)

Catalytic instability of the glucokinase MODY-2 mutants V62M and G72R in pancreatic beta cells
-н: Arden, C, зэрэг
Хэвлэсэн: (2006)

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
-н: Beer, N, зэрэг
Хэвлэсэн: (2009)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
-н: Tongtong Dai, зэрэг
Хэвлэсэн: (2023-04-01)

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
-н: Minton, J, зэрэг
Хэвлэсэн: (2007)

Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
-н: Mustafa Altan, зэрэг
Хэвлэсэн: (2020-03-01)