Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

OBJECTIVE: To demonstrate the importance of using a combined genetic and functional approach to correctly interpret a genetic test for monogenic diabetes. RESEARCH DESIGN AND METHODS: We identified three probands with a phenotype consistent with maturity-onset diabetes of the young (MODY) subtype GC...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Beer, N, Osbak, K, van de Bunt, M, Tribble, N, Steele, A, Wensley, K, Edghill, E, Colcough, K, Barrett, A, Valentínová, L, Rundle, J, Raimondo, A, Grimsby, J, Ellard, S, Gloyn, A
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	2012

Những quyển sách tương tự

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

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

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

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

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

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
Bằng: Gloyn, A, et al.
Được phát hành: (2009)

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

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
Bằng: Gasperikova, D, et al.
Được phát hành: (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.
Bằng: Gasperíková, D, et al.
Được phát hành: (2009)

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

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

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

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

Association of a homozygous GCK missense mutation with mild diabetes
Bằng: Antonella Marucci, et al.
Được phát hành: (2019-07-01)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
Bằng: van de Bunt, M, et al.
Được phát hành: (2008)

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

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

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
Bằng: Beer, N, et al.
Được phát hành: (2010)

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

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
Bằng: Tribble, N, et al.
Được phát hành: (2009)

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

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
Bằng: Beer, N, et al.
Được phát hành: (2011)

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

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

Characteristics of Glycemic Variability in Patients with GCK-MODY
Bằng: A. K. Ovsyannikova, et al.
Được phát hành: (2022-12-01)

Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.
Bằng: Thanabalasingham, G, et al.
Được phát hành: (2013)

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.
Bằng: Flanagan, SE, et al.
Được phát hành: (2006)

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
Bằng: N. H. Birkebæk, et al.
Được phát hành: (2011-01-01)

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

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
Bằng: Valentinova, L, et al.
Được phát hành: (2012)

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

Heterozygous HTRA1 missense mutation in CADASIL-like family disease
Bằng: Xiaowei Wu, et al.
Được phát hành: (2018-03-01)

Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy
Bằng: Deepak Panwar, et al.
Được phát hành: (2022-03-01)

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

Heterozygous missense variant in GLI2 impairs human endocrine pancreas development
Bằng: Laura M. Mueller, et al.
Được phát hành: (2024-03-01)

A Heterozygous Missense hERG Mutation Associated with Early Repolarization Syndrome
Bằng: Yun-Jiu Cheng, et al.
Được phát hành: (2018-11-01)

Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?
Bằng: Giorgia Canali, et al.
Được phát hành: (2018-11-01)

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
Bằng: Edghill, E, et al.
Được phát hành: (2004)

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

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
Bằng: Ellard, S, et al.
Được phát hành: (2007)