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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	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
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2012

समान संसाधन

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY
द्वारा: Steele, A, और अन्य
प्रकाशित: (2011)

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
द्वारा: Steele, A, और अन्य
प्रकाशित: (2011)

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
द्वारा: Osbak, K, और अन्य
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Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
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प्रकाशित: (2011)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
द्वारा: Gloyn, A, और अन्य
प्रकाशित: (2008)

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
द्वारा: Gloyn, A, और अन्य
प्रकाशित: (2009)

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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प्रकाशित: (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
द्वारा: Gasperikova, D, और अन्य
प्रकाशित: (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.
द्वारा: Gasperíková, D, और अन्य
प्रकाशित: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
द्वारा: Turkkahraman, D, और अन्य
प्रकाशित: (2008)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
द्वारा: Gloyn, A, और अन्य
प्रकाशित: (2007)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
द्वारा: Chakera, A, और अन्य
प्रकाशित: (2014)

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
द्वारा: Raimondo, A, और अन्य
प्रकाशित: (2014)

Association of a homozygous GCK missense mutation with mild diabetes
द्वारा: Antonella Marucci, और अन्य
प्रकाशित: (2019-07-01)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
द्वारा: van de Bunt, M, और अन्य
प्रकाशित: (2008)

Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity
द्वारा: Gasperikova, D, और अन्य
प्रकाशित: (2008)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
द्वारा: Thomson, K, और अन्य
प्रकाशित: (2003)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
द्वारा: Beer, N, और अन्य
प्रकाशित: (2010)

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
द्वारा: Wabitsch, M, और अन्य
प्रकाशित: (2007)

Investigating novel mutational mechanisms for glucokinase mutations with near normal or paradoxical kinetics
द्वारा: Tribble, N, और अन्य
प्रकाशित: (2009)

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

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
द्वारा: Beer, N, और अन्य
प्रकाशित: (2011)

Non-immune diabetes mellitus in children due to heterozygous mutations in the glucokinase gene (GCK-MODY): data of 144 patients
द्वारा: E. A. Sechko, और अन्य
प्रकाशित: (2022-05-01)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
द्वारा: Gloyn, A, और अन्य
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Characteristics of Glycemic Variability in Patients with GCK-MODY
द्वारा: A. K. Ovsyannikova, और अन्य
प्रकाशित: (2022-12-01)

Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.
द्वारा: Thanabalasingham, G, और अन्य
प्रकाशित: (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.
द्वारा: Flanagan, SE, और अन्य
प्रकाशित: (2006)

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency
द्वारा: N. H. Birkebæk, और अन्य
प्रकाशित: (2011-01-01)

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
द्वारा: Tongtong Dai, और अन्य
प्रकाशित: (2023-04-01)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
द्वारा: Valentinova, L, और अन्य
प्रकाशित: (2012)

Familial persistent hyperinsulinaemic hypoglycaemia of infancy due to a novel glucokinase (GCK) activating mutation G68V
द्वारा: Gloyn, A, और अन्य
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Heterozygous HTRA1 missense mutation in CADASIL-like family disease
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Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy
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Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
द्वारा: Mustafa Altan, और अन्य
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Heterozygous missense variant in GLI2 impairs human endocrine pancreas development
द्वारा: Laura M. Mueller, और अन्य
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A Heterozygous Missense hERG Mutation Associated with Early Repolarization Syndrome
द्वारा: Yun-Jiu Cheng, और अन्य
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Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?
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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.
द्वारा: Edghill, E, और अन्य
प्रकाशित: (2004)

Lipid profile indices in young people with GCK-MODY and HNF1A-MODY
द्वारा: Alla K. Ovsyannikova, और अन्य
प्रकाशित: (2022-01-01)

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
द्वारा: Ellard, S, और अन्य
प्रकाशित: (2007)