The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

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Xehetasun bibliografikoak
Egile Nagusiak:	Steele, A, Tribble, N, Caswell, R, Wensley, K, Hattersley, A, Gloyn, A, Ellard, S
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2011

Antzeko izenburuak

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
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Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
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Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
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Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
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Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
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Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
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GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
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Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
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Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
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Association of a homozygous GCK missense mutation with mild diabetes
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MODY2 in Asia: analysis of GCK mutations and clinical characteristics
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Characteristics of Glycemic Variability in Patients with GCK-MODY
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The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
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Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
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Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
nork: Gloyn, A, 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.
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Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
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Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection
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Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
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Incidence of HNF1A and GCK MODY Variants in a South African Population
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An evolving spectrum of diabetes in a woman with GCK-MODY
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Lipid profile indices in young people with GCK-MODY and HNF1A-MODY
nork: Alla K. Ovsyannikova, 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
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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.
nork: Gasperíková, D, et al.
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Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
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Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
nork: Gloyn, A
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Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
nork: Gloyn, A, et al.
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Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
nork: Gasperikova, D, et al.
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When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes
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Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
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Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
nork: Wabitsch, M, et al.
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GCK-MODY diabetes course in persons over 18 years of age: prospective observation
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High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
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High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
nork: McDonald, T, et al.
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Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
nork: Gloyn, A, et al.
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Distinguishing the lipid profile of GCK-MODY patients and its correlation with hsCRP levels
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A synonymous variant in GCK gene as a cause of gestational diabetes mellitus
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Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
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Asian MODY: are we missing an important diagnosis?
nork: Porter, JR, et al.
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Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
nork: Li, Xiuzhen, et al.
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