Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity. - Wikidata - awgldk - TriplyDB

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

http://www.wikidata.org/entity/Q34594124

about

Phosphofructo-2-kinase/fructose-2,6-bisphosphatase modulates oscillations of pancreatic islet metabolism Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing AMP-activated protein kinase and pancreatic/duodenal homeobox-1 involved in insulin secretion under high leucine exposure in rat insulinoma beta-cells Identifying diabetes-related important protein targets with few interacting partners with the PageRank algorithm Sox9-haploinsufficiency causes glucose intolerance in mice Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.A vertex similarity-based framework to discover and rank orphan disease-related genes.Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene.GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.Genetic variants, prediagnostic circulating levels of insulin-like growth factors, insulin, and glucose and the risk of colorectal cancer: the Multiethnic Cohort study.SRC-2 orchestrates polygenic inputs for fine-tuning glucose homeostasis Overcoming the spatial barriers of the stimulus secretion cascade in pancreatic β-cells.Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.The ubiquitin-proteasome system regulates the stability and activity of the glucose sensor glucokinase in pancreatic β-cells.De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.Insight into the biochemical characteristics of a novel glucokinase gene mutation.HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2).Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

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P2860

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.

http://www.wikidata.org/entity/Q34594124

description

2006 nî lūn-bûn

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2006 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2006 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2006年の論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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2006年論文

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Functional analysis of human g ...... nisms of glucokinase activity.

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Blázquez E

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Delgado-Alvarez E

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Flández B

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Galán M

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García-Herrero CM

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Gargallo M

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Navas MA

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Vincent O

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P2860

Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme.

Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2).

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