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...

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Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	2008

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Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
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Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
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Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
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Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
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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
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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.
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Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
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Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
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Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
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Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
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Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
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Analysis of upstream promoter region and corresponding 5’ UTR of glucokinase (GCK) gene in horse breeds
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Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
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Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
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Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
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Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
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Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
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Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
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Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
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Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
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Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
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Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
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Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
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The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
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The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
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Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
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A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
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The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
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Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
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A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
de réir: N. H. Birkebæk, et al.
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Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
de réir: Gloyn, A, et al.
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A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
de réir: Matthew G Rees, et al.
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Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
de réir: Beer, N, et al.
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Catalytic instability of the glucokinase MODY-2 mutants V62M and G72R in pancreatic beta cells
de réir: Arden, C, et al.
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The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
de réir: Beer, N, et al.
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GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
de réir: Tongtong Dai, et al.
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Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
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Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
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