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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2008

Παρόμοια τεκμήρια

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
ανά: Gloyn, A, κ.ά.
Έκδοση: (2007)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
ανά: Valentinova, L, κ.ά.
Έκδοση: (2011)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
ανά: Gasperikova, D, κ.ά.
Έκδοση: (2008)

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
ανά: Christesen, H, κ.ά.
Έκδοση: (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
ανά: Gasperikova, D, κ.ά.
Έκδοση: (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.
ανά: Gasperíková, D, κ.ά.
Έκδοση: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
ανά: Turkkahraman, D, κ.ά.
Έκδοση: (2008)

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

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis
ανά: Yasmin Abu Aqel, κ.ά.
Έκδοση: (2024-09-01)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
ανά: Gloyn, A, κ.ά.
Έκδοση: (2006)

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

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
ανά: Marina Capuano, κ.ά.
Έκδοση: (2012-01-01)

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

Analysis of upstream promoter region and corresponding 5’ UTR of glucokinase (GCK) gene in horse breeds
ανά: L. Minieri, κ.ά.
Έκδοση: (2010-04-01)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
ανά: Gloyn, A, κ.ά.
Έκδοση: (2009)

Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
ανά: Beer, N, κ.ά.
Έκδοση: (2009)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
ανά: Valentinova, L, κ.ά.
Έκδοση: (2012)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
ανά: van de Bunt, M, κ.ά.
Έκδοση: (2008)

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

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
ανά: Li, Xiuzhen, κ.ά.
Έκδοση: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
ανά: Xiuzhen Li, κ.ά.
Έκδοση: (2018-03-01)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
ανά: Gloyn, A, κ.ά.
Έκδοση: (2007)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
ανά: Ding, S, κ.ά.
Έκδοση: (2010)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
ανά: Lucia Valentínová, κ.ά.
Έκδοση: (2012-01-01)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
ανά: Tribble, N, κ.ά.
Έκδοση: (2009)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
ανά: Steele, A, κ.ά.
Έκδοση: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
ανά: Steele, A, κ.ά.
Έκδοση: (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.
ανά: Beer, N, κ.ά.
Έκδοση: (2012)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
ανά: Rees, MG, κ.ά.
Έκδοση: (2014)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
ανά: Chakera, A, κ.ά.
Έκδοση: (2014)

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

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

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
ανά: Gloyn, A, κ.ά.
Έκδοση: (2002)

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

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
ανά: Beer, N, κ.ά.
Έκδοση: (2010)

Catalytic instability of the glucokinase MODY-2 mutants V62M and G72R in pancreatic beta cells
ανά: Arden, C, κ.ά.
Έκδοση: (2006)

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
ανά: Beer, N, κ.ά.
Έκδοση: (2009)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
ανά: Tongtong Dai, κ.ά.
Έκδοση: (2023-04-01)

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
ανά: Minton, J, κ.ά.
Έκδοση: (2007)

Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
ανά: Mustafa Altan, κ.ά.
Έκδοση: (2020-03-01)