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...

Ամբողջական նկարագրություն

Մատենագիտական մանրամասներ
Հիմնական հեղինակներ:	Page, R, Hattersley, A, Levy, J, Barrow, B, Patel, P, Lo, D, Wainscoat, J, Permutt, M, Bell, G, Turner, R
Ձևաչափ:	Journal article
Լեզու:	English
Հրապարակվել է:	1995

Նմանատիպ նյութեր

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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Հրապարակվել է: (1996)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
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Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations
‌: Gloyn, A, և այլն
Հրապարակվել է: (2003)

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
‌: Gloyn, A, և այլն
Հրապարակվել է: (2003)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
‌: Tribble, N, և այլն
Հրապարակվել է: (2009)

Availability of type II diabetic families for detection of diabetes susceptibility genes.
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Հրապարակվել է: (1993)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
‌: Thomson, K, և այլն
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Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
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Հրապարակվել է: (2007)

Drug resistance missense mutations in cancer are subject to evolutionary constraints.
‌: Ran Friedman
Հրապարակվել է: (2013-01-01)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
‌: Gloyn, A, և այլն
Հրապարակվել է: (2002)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
‌: Ding, S, և այլն
Հրապարակվել է: (2010)

Association of low birth weight with beta cell function in the adult first degree relatives of non-insulin dependent diabetic subjects.
‌: Cook, J, և այլն
Հրապարակվել է: (1993)

Distribution of type II diabetes in nuclear families.
‌: Cook, J, և այլն
Հրապարակվել է: (1993)

Novel glucokinase mutation in a boy with maturity-onset diabetes of the young
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Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
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The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
‌: Beer, N, և այլն
Հրապարակվել է: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
‌: Steele, A, և այլն
Հրապարակվել է: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
‌: Steele, A, և այլն
Հրապարակվել է: (2011)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
‌: Beer, N, և այլն
Հրապարակվել է: (2010)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
‌: Valentinova, L, և այլն
Հրապարակվել է: (2011)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
‌: Gasperikova, D, և այլն
Հրապարակվել է: (2008)

Gene characteristics predicting missense, nonsense and frameshift mutations in tumor samples
‌: Ivan P. Gorlov, և այլն
Հրապարակվել է: (2018-11-01)

Association of glucokinase, glucokinase regulator, glucose-6-phosphatase catalytic subunit 2 and melatonin receptor 1b genes polymorphisms with type 2 diabetic subjects
‌: Ansari, Neda
Հրապարակվել է: (2020)

Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
‌: Vits, L, և այլն
Հրապարակվել է: (2006)

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
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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
‌: Carlos J. Pirola, և այլն
Հրապարակվել է: (2018-09-01)

Segregation analysis of NIDDM in Caucasian families.
‌: Cook, J, և այլն
Հրապարակվել է: (1994)

Specific insulin and proinsulin secretion in glucokinase-deficient individuals
‌: V.C. Pardini, և այլն
Հրապարակվել է: (1999-04-01)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
‌: Li, Xiuzhen, և այլն
Հրապարակվել է: (2018)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
‌: Xiuzhen Li, և այլն
Հրապարակվել է: (2018-03-01)

Variable phenotypes are associated with PMP22 missense mutations.
‌: Russo, M, և այլն
Հրապարակվել է: (2011)

Clinical investigation of glucokinase activators for the restoration of glucose homeostasis in diabetes
‌: Ping Li, և այլն
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Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
‌: Valentinova, L, և այլն
Հրապարակվել է: (2012)

Conformational transition pathway of R308K mutant glucokinase in the presence of the glucokinase activator YNKGKA4
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Near-normalisation of diurnal glucose concentrations by continuous administration of glucagon-like peptide-1 (GLP-1) in subjects with NIDDM.
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Հրապարակվել է: (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
‌: Care Matthew A, և այլն
Հրապարակվել է: (2006-09-01)

Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations
‌: Tai-Sung Lee, և այլն
Հրապարակվել է: (2006-01-01)

Permanent neonatal diabetes mellitus in an Indian infant due to a novel mutation in the glucokinase gene
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Հրապարակվել է: (2021-01-01)