Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Gloyn, A, Ellard, S, Shield, J, Temple, I, Mackay, D, Polak, M, Barrett, T, Hattersley, A
Formáid:	Journal article
Teanga:	English
Foilsithe / Cruthaithe:	2002

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
de réir: Flanagan, SE, et al.
Foilsithe / Cruthaithe: (2007)

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007)
de réir: Flanagan, SE, et al.
Foilsithe / Cruthaithe: (2008)

Permanent neonatal diabetes in an Asian infant.
de réir: Porter, JR, et al.
Foilsithe / Cruthaithe: (2005)

Erratum: Mutations in ATP-sensitive K+ cannel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (Diabetes (2007) 56 (1930-1937))
de réir: Flanagan, SE, et al.
Foilsithe / Cruthaithe: (2008)

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

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

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
de réir: Gloyn, A
Foilsithe / Cruthaithe: (2003)

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
de réir: van de Bunt, M, et al.
Foilsithe / Cruthaithe: (2008)

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
de réir: Vaxillaire, M, et al.
Foilsithe / Cruthaithe: (2004)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
de réir: S Schnyder, et al.
Foilsithe / Cruthaithe: (2005-06-01)

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

Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
de réir: Craig, T, et al.
Foilsithe / Cruthaithe: (2008)

Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations
de réir: Gloyn, A, et al.
Foilsithe / Cruthaithe: (2003)

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
de réir: Ellard, S, et al.
Foilsithe / Cruthaithe: (2007)

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
de réir: Shield, J, et al.
Foilsithe / Cruthaithe: (2008)

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
de réir: Gloyn, A, et al.
Foilsithe / Cruthaithe: (2004)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
de réir: Beer, N, et al.
Foilsithe / Cruthaithe: (2010)

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
de réir: Gloyn, A, et al.
Foilsithe / Cruthaithe: (2003)

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.
de réir: Flanagan, SE, et al.
Foilsithe / Cruthaithe: (2006)

Permanent neonatal diabetes mellitus in an Indian infant due to a novel mutation in the glucokinase gene
de réir: Kagithapu Surender, et al.
Foilsithe / Cruthaithe: (2021-01-01)

Generation of permanent neonatal diabetes mellitus dogs with glucokinase point mutations through base editing
de réir: Xiaomin Wang, et al.
Foilsithe / Cruthaithe: (2021-10-01)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
de réir: Rees, MG, et al.
Foilsithe / Cruthaithe: (2014)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
de réir: Valentinova, L, et al.
Foilsithe / Cruthaithe: (2012)

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
de réir: Gloyn, A, et al.
Foilsithe / Cruthaithe: (2004)

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
de réir: Beer, N, et al.
Foilsithe / Cruthaithe: (2011)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
de réir: Lucia Valentínová, et al.
Foilsithe / Cruthaithe: (2012-01-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
de réir: Gloyn, A, et al.
Foilsithe / Cruthaithe: (2007)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
de réir: Gloyn, A, et al.
Foilsithe / Cruthaithe: (2008)

Author Correction: Generation of permanent neonatal diabetes mellitus dogs with glucokinase point mutations through base editing
de réir: Xiaomin Wang, et al.
Foilsithe / Cruthaithe: (2021-12-01)

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
de réir: Minton, J, et al.
Foilsithe / Cruthaithe: (2007)

Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
de réir: Proks, P, et al.
Foilsithe / Cruthaithe: (2005)

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

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
de réir: Matthew G Rees, et al.
Foilsithe / Cruthaithe: (2014-01-01)

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
de réir: Gloyn, A, et al.
Foilsithe / Cruthaithe: (2005)

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
de réir: Rees, MG, et al.
Foilsithe / Cruthaithe: (2013)

Small molecular glucokinase activators: Has another new anti-diabetic therapeutic lost favour?
de réir: Rees, MG, et al.
Foilsithe / Cruthaithe: (2014)

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

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
de réir: Valentinova, L, et al.
Foilsithe / Cruthaithe: (2011)

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

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
de réir: Ding, S, et al.
Foilsithe / Cruthaithe: (2010)

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

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