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

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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2008PLoSO...3.1870T
P356DOI10.1371/JOURNAL.PONE.0001870
P932PMC publication ID2270336
P698PubMed publication ID18382660
P5875ResearchGate publication ID5469360

P50authorAdriana ZagariQ28322743
Valentina CapobiancoQ59656822
Lucia SacchettiQ68681116
Nadia TintoQ99548757
Marina CapuanoQ117216971
Adriana FranzeseQ117216972
P2093author name stringAlfonso De Simone
Michela Giugliano
Raffaella Spadaro
Gerardo Daniele
P2860cites workMutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunctionQ21558630
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitusQ24564297
Regulation of hexokinase I: crystal structure of recombinant human brain hexokinase complexed with glucose and phosphateQ27765296
Modeller: generation and refinement of homology-based protein structure modelsQ28236254
2000 CDC Growth Charts for the United States: methods and developmentQ29614506
The ConSurf-HSSP database: the mapping of evolutionary conservation among homologs onto PDB structures.Q30349877
GROMACS: A message-passing parallel molecular dynamics implementationQ51756282
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the youngQ57003019
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the youngQ57920439
An Efficient Mean Solvation Force Model for Use in Molecular Dynamics Simulations of Proteins in Aqueous SolutionQ57950560
Six novel mutations in the GCK gene in MODY patientsQ58025165
From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase RegulationQ63384400
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 familiesQ73108256
MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of "neonatal diabetes"?Q73193789
Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotypeQ78060423
Are glucokinase mutations associated with low triglycerides?Q81570361
Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinaseQ33976623
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the youngQ34092827
Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancyQ34266132
Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activityQ34594124
Molecular insights into insulin action and secretionQ34655565
An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remissionQ35295001
Insights on pathogenesis of type 2 diabetes from MODY geneticsQ36787559
Amino acid conservation in animal glucokinases. Identification of residues implicated in the interaction with the regulatory proteinQ38360402
Mammalian glucokinase and its geneQ40855958
Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI).Q40934358
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.Q43709071
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).Q44387463
Mutations in the glucokinase gene of the fetus result in reduced birth weightQ47285449
Standardizing mutation nomenclature: why bother?Q48721826
Nomenclature for the description of human sequence variationsQ48738393
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectItalyQ38
P304page(s)e1870
P577publication date2008-04-02
P1433published inPLOS OneQ564954
P1476titleGlucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy
P478volume3

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cites work (P2860)
Q91666192A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population
Q54459005Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.
Q34410131Coupled mutation finder: a new entropy-based method quantifying phylogenetic noise for the detection of compensatory mutations
Q30359590Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2)
Q39162833Functional differences between aggregated and dispersed insulin-producing cells
Q41713452GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey
Q54359889Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.
Q35736142Genetic causes of maturity onset diabetes of the young may be less prevalent in American pregnant women recently diagnosed with diabetes mellitus than in previously studied European populations
Q37822185Genetic polymorphisms in diabetes: influence on therapy with oral antidiabetics
Q34325826Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy
Q50880858Glucokinase mutations in pediatric patients with impaired fasting glucose.
Q37296715Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).
Q34023089Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level
Q36560518Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2)
Q33828754Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus
Q35138060Quantum coupled mutation finder: predicting functionally or structurally important sites in proteins using quantum Jensen-Shannon divergence and CUDA programming.
Q37076848Solution NMR Spectroscopy for the Study of Enzyme Allostery
Q37605708Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia