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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Bibliografski detalji
Glavni autori:	Steele, A, Tribble, N, Caswell, R, Wensley, K, Hattersley, A, Gloyn, A, Ellard, S
Format:	Journal article
Jezik:	English
Izdano:	2011

Slični predmeti

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
od: Steele, A, i dr.
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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).
od: Thomson, K, i dr.
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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.
od: Christesen, H, i dr.
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Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
od: Turkkahraman, D, i dr.
Izdano: (2008)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
od: Tongtong Dai, i dr.
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Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
od: Mustafa Altan, i dr.
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Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
od: Gloyn, A, i dr.
Izdano: (2009)

Association of a homozygous GCK missense mutation with mild diabetes
od: Antonella Marucci, i dr.
Izdano: (2019-07-01)

MODY2 in Asia: analysis of GCK mutations and clinical characteristics
od: Yuan Zhou, i dr.
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Characteristics of Glycemic Variability in Patients with GCK-MODY
od: A. K. Ovsyannikova, i dr.
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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
od: Chakera, A, i dr.
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Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
od: Marina Capuano, i dr.
Izdano: (2012-01-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
od: Gloyn, A, i dr.
Izdano: (2007)

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
od: Osbak, K, i dr.
Izdano: (2009)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
od: Raimondo, A, i dr.
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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
od: Aoife Garrahy, i dr.
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Lipid profile indices in young people with GCK-MODY and HNF1A-MODY
od: Alla K. Ovsyannikova, i dr.
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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
od: Gasperikova, D, i dr.
Izdano: (2009)

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.
od: Gasperíková, D, i dr.
Izdano: (2009)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
od: S Schnyder, i dr.
Izdano: (2005-06-01)

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

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
od: Gloyn, A, i dr.
Izdano: (2007)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
od: Gasperikova, D, i dr.
Izdano: (2008)

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes
od: Althari, S, i dr.
Izdano: (2016)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
od: E. A. Sechko, i dr.
Izdano: (2022-05-01)

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
od: Wabitsch, M, i dr.
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GCK-MODY diabetes course in persons over 18 years of age: prospective observation
od: A. K. Ovsyannikova, i dr.
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High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
od: McDonald, T, i dr.
Izdano: (2011)

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
od: McDonald, T, i dr.
Izdano: (2011)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
od: Gloyn, A, i dr.
Izdano: (2006)

Distinguishing the lipid profile of GCK-MODY patients and its correlation with hsCRP levels
od: Fan Ping, i dr.
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A synonymous variant in GCK gene as a cause of gestational diabetes mellitus
od: Natalia A. Zubkova, i dr.
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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.
od: Flanagan, SE, i dr.
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Asian MODY: are we missing an important diagnosis?
od: Porter, JR, i dr.
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Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
od: Li, Xiuzhen, i dr.
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