(Q48181466)

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Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.

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4 April 2020

Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28247534%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Maria Angeles Navas

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4 April 2020

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4 April 2020

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4 April 2020

Angel Gutierrez-Nogués

2

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4 April 2020

author name string

Concepción Fernández-Ramos

3

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4 April 2020

Teresa Velayos

4

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4 April 2020

Amaia Vela

5

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4 April 2020

Spanish Congenital Hyperinsulinism Group

6

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4 April 2020

publication date

27 March 2017

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4 April 2020

Clinical Endocrinology

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4 April 2020

86

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4 April 2020

6

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4 April 2020

778-783

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4 April 2020

Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Glucose modulation of glucokinase activation by small molecules

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Diagnostic difficulties in glucokinase hyperinsulinism.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Large Islets, Beta-Cell Proliferation, and a Glucokinase Mutation

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Clinical and genetic characterization of congenital hyperinsulinism in Spain.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Congenital hyperinsulinism: current trends in diagnosis and therapy

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Mutational analysis of allosteric activation and inhibition of glucokinase

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Activating mutations in the human glucokinase gene revealed by genetic selection

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Sugar binding to recombinant wild-type and mutant glucokinase monitored by kinetic measurement and tryptophan fluorescence

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Genetic analysis of Italian patients with congenital hyperinsulinism of infancy

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

1 reference

https://api.crossref.org/works/10.1111%2FCEN.13318

21 January 2018

Identifiers

10.1111/CEN.13318

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28247534%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28247534%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

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