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

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

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Gloyn, A, Ellard, S, Shield, J, Temple, I, Mackay, D, Polak, M, Barrett, T, Hattersley, A
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2002

Παρόμοια τεκμήρια

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
ανά: Flanagan, SE, κ.ά.
Έκδοση: (2007)

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007)
ανά: Flanagan, SE, κ.ά.
Έκδοση: (2008)

Permanent neonatal diabetes in an Asian infant.
ανά: Porter, JR, κ.ά.
Έκδοση: (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))
ανά: Flanagan, SE, κ.ά.
Έκδοση: (2008)

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
ανά: Osbak, K, κ.ά.
Έκδοση: (2009)

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.
ανά: Turkkahraman, D, κ.ά.
Έκδοση: (2008)

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

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans.
ανά: van de Bunt, M, κ.ά.
Έκδοση: (2008)

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
ανά: Vaxillaire, M, κ.ά.
Έκδοση: (2004)

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment
ανά: S Schnyder, κ.ά.
Έκδοση: (2005-06-01)

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
ανά: Thomson, K, κ.ά.
Έκδοση: (2003)

Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
ανά: Craig, T, κ.ά.
Έκδοση: (2008)

Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations
ανά: Gloyn, A, κ.ά.
Έκδοση: (2003)

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
ανά: Ellard, S, κ.ά.
Έκδοση: (2007)

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
ανά: Shield, J, κ.ά.
Έκδοση: (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.
ανά: Gloyn, A, κ.ά.
Έκδοση: (2004)

Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia
ανά: Beer, N, κ.ά.
Έκδοση: (2010)

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
ανά: Gloyn, A, κ.ά.
Έκδοση: (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.
ανά: Flanagan, SE, κ.ά.
Έκδοση: (2006)

Permanent neonatal diabetes mellitus in an Indian infant due to a novel mutation in the glucokinase gene
ανά: Kagithapu Surender, κ.ά.
Έκδοση: (2021-01-01)

Generation of permanent neonatal diabetes mellitus dogs with glucokinase point mutations through base editing
ανά: Xiaomin Wang, κ.ά.
Έκδοση: (2021-10-01)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease
ανά: Rees, MG, κ.ά.
Έκδοση: (2014)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
ανά: Valentinova, L, κ.ά.
Έκδοση: (2012)

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
ανά: Gloyn, A, κ.ά.
Έκδοση: (2004)

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
ανά: Beer, N, κ.ά.
Έκδοση: (2011)

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
ανά: Lucia Valentínová, κ.ά.
Έκδοση: (2012-01-01)

Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials
ανά: Gloyn, A, κ.ά.
Έκδοση: (2007)

Glucokinase (GCK) and other susceptibility genes for beta-cell dysfunction: the candidate approach.
ανά: Gloyn, A, κ.ά.
Έκδοση: (2008)

Author Correction: Generation of permanent neonatal diabetes mellitus dogs with glucokinase point mutations through base editing
ανά: Xiaomin Wang, κ.ά.
Έκδοση: (2021-12-01)

Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
ανά: Minton, J, κ.ά.
Έκδοση: (2007)

Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
ανά: Proks, P, κ.ά.
Έκδοση: (2005)

Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
ανά: Gloyn, A, κ.ά.
Έκδοση: (2007)

A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease.
ανά: Matthew G Rees, κ.ά.
Έκδοση: (2014-01-01)

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.
ανά: Gloyn, A, κ.ά.
Έκδοση: (2005)

Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?
ανά: Rees, MG, κ.ά.
Έκδοση: (2013)

Small molecular glucokinase activators: Has another new anti-diabetic therapeutic lost favour?
ανά: Rees, MG, κ.ά.
Έκδοση: (2014)

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
ανά: Christesen, H, κ.ά.
Έκδοση: (2008)

Identification and functional characterisation of novel inactivating glucokinase mutations causing GCK-MODY in Slovakia
ανά: Valentinova, L, κ.ά.
Έκδοση: (2011)

The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity
ανά: Chakera, A, κ.ά.
Έκδοση: (2014)

Naturally occurring glucokinase mutations are associated with defects in posttranslational S-nitrosylation.
ανά: Ding, S, κ.ά.
Έκδοση: (2010)