Condition: Diabetes mellitus autosomal dominant type II (disorder)


rs104894010 in GCK gene and Diabetes mellitus autosomal dominant type II (disorder) PMID 8325892 1993 Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

PMID 11106831 2000 Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.

PMID 10588527 1999 Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

PMID 1303265 1992 Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

PMID 1502186 1992 Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 19884385 2009 Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

PMID 22611063 2012 Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

PMID 17573900 2007 Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

PMID 8495817 1993 Identification of glucokinase mutations in subjects with gestational diabetes mellitus.

PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

PMID 8878425 1996 Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.

PMID 8446612 1993 Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

PMID 18322640 2008 Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

PMID 9049484 1997 Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

PMID 9662401 1998 Mutations in the glucokinase gene of the fetus result in reduced birth weight.

PMID 1464666 1992 Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.

PMID 8168652 1994 Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 10694920 1998 Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

PMID 19187021 2009 Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.

PMID 18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

PMID 27271189 2016 Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.

PMID 15677479 2005 Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

PMID 9736233 1998 A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.

PMID 17389332 2007 Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.

PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

PMID 25182307 2014 ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents.

PMID 11508276 2001 High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

PMID 11079754 2000 "MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of ""neonatal diabetes""?"

PMID 30155490 2018 Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes.

PMID 24430320 2014 Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia.

PMID 30592380 2019 Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.

rs104894005 in GCK;LOC105375258 gene and Diabetes mellitus autosomal dominant type II (disorder) PMID 8168652 1994 Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 10588527 1999 Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

PMID 10694920 1998 Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

PMID 9662401 1998 Mutations in the glucokinase gene of the fetus result in reduced birth weight.

PMID 8878425 1996 Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.

PMID 22611063 2012 Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

PMID 1303265 1992 Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

PMID 18322640 2008 In this work, we describe the biochemical characterization of six missense glucokinase mutations associated with MODY2 from Spanish patients, namely, Y61S, V182L, C233R, E265K, A379V, and K420E.

PMID 1464666 1992 Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.

PMID 9049484 1997 Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

PMID 8325892 1993 Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

PMID 8495817 1993 Identification of glucokinase mutations in subjects with gestational diabetes mellitus.

PMID 1502186 1992 Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.

PMID 17573900 2007 Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

PMID 19884385 2009 Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 11106831 2000 Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.

PMID 8446612 1993 Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

PMID 11508276 2001 High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

PMID 10753050 2000 A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

PMID 16444761 2006 Glucokinase mutations in young children with hyperglycemia.

PMID 19309449 2009 Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.

PMID 18411240 2008 Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).

PMID 18382660 2008 Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

PMID 16632067 2006 Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients.

PMID 18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

PMID 23295292 2012 Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

PMID 18322640 2008 Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

PMID 22060211 2012 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

rs104894008 in LOC105375258;GCK gene and Diabetes mellitus autosomal dominant type II (disorder) PMID 11106831 2000 Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.

PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

PMID 10588527 1999 Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

PMID 10694920 1998 Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

PMID 1502186 1992 Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.

PMID 19884385 2009 Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

PMID 8878425 1996 Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.

PMID 9662401 1998 Mutations in the glucokinase gene of the fetus result in reduced birth weight.

PMID 8446612 1993 Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

PMID 9049484 1997 Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

PMID 17573900 2007 Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 1464666 1992 Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.

PMID 1303265 1992 Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

PMID 8325892 1993 Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 18322640 2008 Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

PMID 8168652 1994 Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

PMID 8495817 1993 Identification of glucokinase mutations in subjects with gestational diabetes mellitus.

PMID 22611063 2012 Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

PMID 19564454 2009 Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.

PMID 17204055 2007 Six novel mutations in the GCK gene in MODY patients.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

PMID 20337973 2010 Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

PMID 24735133 2015 Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.

PMID 18382660 2008 Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

PMID 12442280 2002 GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

PMID 22820548 2012 GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.