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...

Podrobná bibliografie
Hlavní autoři:	Gloyn, A, Tribble, N, van de Bunt, M, Barrett, A, Johnson, P
Médium:	Journal article
Jazyk:	English
Vydáno:	2008

Podobné jednotky

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Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
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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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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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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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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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Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
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Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
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