(Q46919848)

English

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

scientific article published in November 2007

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scholarly article

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9 January 2020

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17976205%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

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based on heuristic

inferred from title

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Klaus-Michael Debatin

8

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9 January 2020

Martijn van de Bunt

3

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9 January 2020

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9 January 2020

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9 January 2020

author name string

Lahr G

2

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9 January 2020

Marchant C

4

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9 January 2020

Lindner M

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9 January 2020

von Puttkamer J

6

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9 January 2020

Fenneberg A

7

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9 January 2020

Klein R

9

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9 January 2020

Clark A

11

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9 January 2020

Wabitsch M

1

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9 January 2020

publication date

1 November 2007

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9 January 2020

Diabetic Medicine

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9 January 2020

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9 January 2020

12

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9 January 2020

1393-1399

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9 January 2020

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

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%2FJ.1464-5491.2007.02285.X

21 January 2018

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Allosteric activators of glucokinase: potential role in diabetes therapy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Stimulation of hepatocyte glucose metabolism by novel small molecule glucokinase activators

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Glucokinase thermolability and hepatic regulatory protein binding are essential factors for predicting the blood glucose phenotype of missense mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Correction of diabetic alterations by glucokinase.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Improved metabolic disorders of insulin receptor-deficient mice by transgenic overexpression of glucokinase in the liver

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Phenotypic correction of diabetic mice by adenovirus-mediated glucokinase expression

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution

1 reference

https://api.crossref.org/works/10.1111%2FJ.1464-5491.2007.02285.X

21 January 2018

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