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

scientific article published on 01 February 1997

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families is …
instance of (P31):
scholarly articleQ13442814

External links are
P6179Dimensions Publication ID1010041872
P356DOI10.1007/S001250050666
P698PubMed publication ID9049484

P50authorGilberto VelhoQ44259397
Graeme I. BellQ60572593
P2093author name stringWeber IT
Bellanné-Chantelot C
Deschamps I
Froguel P
Timsit J
Lipkind GM
Passa P
Robert JJ
Pilkis SJ
Marotta D
Blanché H
Pardini VC
Vaxillaire M
P433issue2
P304page(s)217-224
P577publication date1997-02-01
P1433published inDiabetologiaQ5270140
P1476titleIdentification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
P478volume40

Reverse relations

cites work (P2860)
Q45281560A genetic and physiological study of impaired glucose homeostasis control in C57BL/6J mice
Q50554021Alx3-deficient mice exhibit decreased insulin in beta cells, altered glucose homeostasis and increased apoptosis in pancreatic islets.
Q54613502Animal model of human maturity onset diabetes of the young--type 2: similar but different?
Q36269724Association of prediabetes-associated single nucleotide polymorphisms with microalbuminuria
Q36210972Association with nitric oxide synthase on insulin secretory granules regulates glucokinase protein levels
Q40934358Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI).
Q24291611Characterization of glucokinase-binding protein epitopes by a phage-displayed peptide library. Identification of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase as a novel interaction partner
Q41862149Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness.
Q35997281Clinical features and treatment of maturity onset diabetes of the young (MODY).
Q37095214Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
Q42714781Clinically-Defined Maturity Onset Diabetes of the Young in Omanis: Absence of the common Caucasian gene mutations
Q34610919Contrasting molecular population genetics of four hexokinases in Drosophila melanogaster, D. simulans and D. yakuba.
Q37403160Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.
Q36811796Differential expression of genes and changes in glucose metabolism in the liver of liver-specific glucokinase gene knockout mice.
Q28479050Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing
Q41713452GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey
Q39828890GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated
Q33899140Genetic Counseling for Diabetes Mellitus
Q54973025Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
Q58025244Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha
Q35259684Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.
Q40453081Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer.
Q36423339Genetics of macrovascular complications in diabetes
Q43245993Gestational diabetes mellitus: primum non nocere.
Q34947569Glucagon-like peptide 1 stimulates post-translational activation of glucokinase in pancreatic beta cells
Q34266132Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy
Q38262676Glucokinase MODY and implications for treatment goals of common forms of diabetes
Q35250931Glucokinase and IRS-2 are required for compensatory beta cell hyperplasia in response to high-fat diet-induced insulin resistance.
Q28472433Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy
Q34023089Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level
Q92854508Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations
Q92276315Maturity-onset diabetes of the young (MODY): current perspectives on diagnosis and treatment
Q37364911Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families
Q36560518Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2)
Q77735613Molecular Genetics of Maturity-onset Diabetes of the Young
Q38306165Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism
Q24653018Molecular physiology of mammalian glucokinase
Q28066434Monogenic diabetes and pregnancy
Q36691238Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient
Q37590415Monogenic diabetes: a diagnostic algorithm for clinicians
Q33576453Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation
Q27024024Pathogenesis of the metabolic syndrome: insights from monogenic disorders
Q38701664Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients
Q46963852Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees
Q28080643Present status of clinical deployment of glucokinase activators
Q51486468Prevalence and clinical phenotype of the p.Val226Met glucokinase gene mutation in French Canadians in Quebec, Canada.
Q33691222Quantitative mass spectrometry of diabetic kidney tubules identifies GRAP as a novel regulator of TGF-beta signaling
Q64119960The APOE3-Leiden Heterozygous Glucokinase Knockout Mouse as Novel Translational Disease Model for Type 2 Diabetes, Dyslipidemia, and Diabetic Atherosclerosis
Q90316040The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing
Q96303797Update on clinical screening of maturity-onset diabetes of the young (MODY)
Q37605708Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
Q31120060Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies
Q45155023Visualising insulin secretion. The Minkowski Lecture 2004.
Q38816600When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

Search more.