Clinical characteristics of subjects with a missense mutation in glucokinase.

Clinical characteristics of subjects with a missense mutation in glucokinase.

The clinical characteristics of subjects with a missense glucokinase mutation, gly299-->arg, were studied in a large pedigree, BX, initially characterized by some members having Maturity Onset Diabetes of the Young (MODY). Glucose tolerance, beta cell function and insulin sensitivity were mea...

Bibliografiset tiedot
Päätekijät:	Page, R, Hattersley, A, Levy, J, Barrow, B, Patel, P, Lo, D, Wainscoat, J, Permutt, M, Bell, G, Turner, R
Aineistotyyppi:	Journal article
Kieli:	English
Julkaistu:	1995

Samankaltaisia teoksia

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population.
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Availability of type II diabetic families for detection of diabetes susceptibility genes.
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Drug resistance missense mutations in cancer are subject to evolutionary constraints.
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Julkaistu: (1993)

Distribution of type II diabetes in nuclear families.
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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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Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
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Association of glucokinase, glucokinase regulator, glucose-6-phosphatase catalytic subunit 2 and melatonin receptor 1b genes polymorphisms with type 2 diabetic subjects
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Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
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Julkaistu: (2005)

Citrullination of glucokinase is linked to autoimmune diabetes
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A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis
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Julkaistu: (2018-09-01)

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Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
Tekijä: Li, Xiuzhen, et al.
Julkaistu: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
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Variable phenotypes are associated with PMP22 missense mutations.
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Julkaistu: (2011)

Clinical investigation of glucokinase activators for the restoration of glucose homeostasis in diabetes
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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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Julkaistu: (2018-08-01)

Near-normalisation of diurnal glucose concentrations by continuous administration of glucagon-like peptide-1 (GLP-1) in subjects with NIDDM.
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Julkaistu: (1997)

Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations
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Predicting the effect of missense mutations on protein function: analysis with Bayesian networks
Tekijä: Care Matthew A, et al.
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Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations
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Permanent neonatal diabetes mellitus in an Indian infant due to a novel mutation in the glucokinase gene
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