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.

Show other versions (1)

Manylion Llyfryddiaeth
Prif Awduron:	Steele, A, Tribble, N, Caswell, R, Wensley, K, Hattersley, A, Gloyn, A, Ellard, S
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	2011

Eitemau Tebyg

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
gan: Steele, A, et al.
Cyhoeddwyd: (2011)

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
gan: Beer, N, et al.
Cyhoeddwyd: (2012)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
gan: Thomson, K, et al.
Cyhoeddwyd: (2003)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
gan: Valentinova, L, et al.
Cyhoeddwyd: (2011)

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
gan: Christesen, H, et al.
Cyhoeddwyd: (2008)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
gan: Turkkahraman, D, et al.
Cyhoeddwyd: (2008)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
gan: Tongtong Dai, et al.
Cyhoeddwyd: (2023-04-01)

Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
gan: Mustafa Altan, et al.
Cyhoeddwyd: (2020-03-01)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
gan: Gloyn, A, et al.
Cyhoeddwyd: (2009)

Association of a homozygous GCK missense mutation with mild diabetes
gan: Antonella Marucci, et al.
Cyhoeddwyd: (2019-07-01)

MODY2 in Asia: analysis of GCK mutations and clinical characteristics
gan: Yuan Zhou, et al.
Cyhoeddwyd: (2020-06-01)

Characteristics of Glycemic Variability in Patients with GCK-MODY
gan: A. K. Ovsyannikova, et al.
Cyhoeddwyd: (2022-12-01)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
gan: Chakera, A, et al.
Cyhoeddwyd: (2014)

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.
gan: Marina Capuano, et al.
Cyhoeddwyd: (2012-01-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
gan: Gloyn, A, et al.
Cyhoeddwyd: (2007)

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
gan: Osbak, K, et al.
Cyhoeddwyd: (2009)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
gan: Raimondo, A, et al.
Cyhoeddwyd: (2014)

Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection
gan: Valérie M. Schwitzgebel, et al.
Cyhoeddwyd: (2024-04-01)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
gan: Gloyn, A, et al.
Cyhoeddwyd: (2008)

Incidence of HNF1A and GCK MODY Variants in a South African Population
gan: Matsha TE, et al.
Cyhoeddwyd: (2020-12-01)

An evolving spectrum of diabetes in a woman with GCK-MODY
gan: Aoife Garrahy, et al.
Cyhoeddwyd: (2019-01-01)

Lipid profile indices in young people with GCK-MODY and HNF1A-MODY
gan: Alla K. Ovsyannikova, et al.
Cyhoeddwyd: (2022-01-01)

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
gan: Gasperikova, D, et al.
Cyhoeddwyd: (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.
gan: Gasperíková, D, et al.
Cyhoeddwyd: (2009)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
gan: S Schnyder, et al.
Cyhoeddwyd: (2005-06-01)

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

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
gan: Gloyn, A, et al.
Cyhoeddwyd: (2007)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
gan: Gasperikova, D, et al.
Cyhoeddwyd: (2008)

When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes
gan: Althari, S, et al.
Cyhoeddwyd: (2016)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
gan: E. A. Sechko, et al.
Cyhoeddwyd: (2022-05-01)

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
gan: Wabitsch, M, et al.
Cyhoeddwyd: (2007)

GCK-MODY diabetes course in persons over 18 years of age: prospective observation
gan: A. K. Ovsyannikova, et al.
Cyhoeddwyd: (2021-07-01)

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
gan: McDonald, T, et al.
Cyhoeddwyd: (2011)

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
gan: McDonald, T, et al.
Cyhoeddwyd: (2011)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
gan: Gloyn, A, et al.
Cyhoeddwyd: (2006)

Distinguishing the lipid profile of GCK-MODY patients and its correlation with hsCRP levels
gan: Fan Ping, et al.
Cyhoeddwyd: (2022-10-01)

A synonymous variant in GCK gene as a cause of gestational diabetes mellitus
gan: Natalia A. Zubkova, et al.
Cyhoeddwyd: (2019-06-01)

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.
gan: Flanagan, SE, et al.
Cyhoeddwyd: (2006)

Asian MODY: are we missing an important diagnosis?
gan: Porter, JR, et al.
Cyhoeddwyd: (2006)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)
gan: Li, Xiuzhen, et al.
Cyhoeddwyd: (2018)