Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia

Bibliografische gegevens
Hoofdauteurs:	Beer, N, Tribble, N, Colclough, K, Arundel, P, Grimsby, J, Chik, C, Ellard, S, Gloyn, A
Formaat:	Conference item
Gepubliceerd in:	2010

Gelijkaardige items

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
door: Beer, N, et al.
Gepubliceerd in: (2011)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
door: Tribble, N, et al.
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Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
door: Ding, S, et al.
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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
door: Beer, N, et al.
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Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
door: Osbak, K, et al.
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Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
door: Turkkahraman, D, et al.
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Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations
door: Gloyn, A, et al.
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Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
door: Gloyn, A, et al.
Gepubliceerd in: (2003)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
door: Thomson, K, et al.
Gepubliceerd in: (2003)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
door: Valentinova, L, et al.
Gepubliceerd in: (2011)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
door: Gloyn, A, et al.
Gepubliceerd in: (2008)

The role of genetic variation in glucokinase and glucokinase regulatory protein in diabetes and related traits
door: Beer, N, et al.
Gepubliceerd in: (2011)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
door: Gasperikova, D, et al.
Gepubliceerd in: (2008)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
door: Valentinova, L, et al.
Gepubliceerd in: (2012)

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
door: Beer, N, et al.
Gepubliceerd in: (2009)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
door: Gloyn, A, et al.
Gepubliceerd in: (2002)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
door: van de Bunt, M, et al.
Gepubliceerd in: (2008)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
door: Gloyn, A, et al.
Gepubliceerd in: (2009)

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
door: Christesen, H, et al.
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Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
door: Lucia Valentínová, et al.
Gepubliceerd in: (2012-01-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
door: Gloyn, A, et al.
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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
door: Gasperikova, D, et al.
Gepubliceerd in: (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.
door: Gasperíková, D, et al.
Gepubliceerd in: (2009)

Insights into glucokinase regulatory protein regulation from the cellular and kinetic characterisation of rare coding variants
door: Rees, MG, et al.
Gepubliceerd in: (2010)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
door: S Schnyder, 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
door: Rees, MG, et al.
Gepubliceerd in: (2014)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
door: Matthew G Rees, et al.
Gepubliceerd in: (2014-01-01)

Elucidating the Glucokinase Activating Potentials of Naturally Occurring Prenylated Flavonoids: An Explicit Computational Approach
door: Kolade Olatubosun Faloye, et al.
Gepubliceerd in: (2021-11-01)

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
door: Rees, MG, et al.
Gepubliceerd in: (2013)

Small molecular glucokinase activators: Has another new anti-diabetic therapeutic lost favour?
door: Rees, MG, et al.
Gepubliceerd in: (2014)

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

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
door: Gloyn, A, et al.
Gepubliceerd in: (2007)

Hypo-efficient domination and hypo-unique domination
door: V‎. ‎Samodivkin
Gepubliceerd in: (2016-06-01)

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
door: Gloyn, A, et al.
Gepubliceerd in: (2005)

Glucocorticoid induced hyperglycaemia
door: M I Weerakkody, et al.
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Traffickers and Victims: Opposite sides of the same coin?
door: Helen Leung, et al.
Gepubliceerd in: (2022-04-01)

A comprehensive map of human glucokinase variant activity
door: Sarah Gersing, et al.
Gepubliceerd in: (2023-04-01)

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
door: Rees, MG, et al.
Gepubliceerd in: (2012)

Persistent hyperinsulinemic hypoglycemia in a 7 yr old girl due to a novel activating glucokinase mutation
door: Lahr, G, et al.
Gepubliceerd in: (2007)

Perioperative hyperglycaemia
door: B.M. Gardner
Gepubliceerd in: (2012-06-01)