Genetics of congenital hyperinsulinism (Q28301770)

Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy.

Europe PubMed Central

title

Genetics of congenital hyperinsulinism (English)

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main subject

congenital disorder

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author name string

Jean-Christophe Fournet

series ordinal

1

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Claudine Junien

series ordinal

2

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language of work or name

English

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publication date

2004

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published in

Endocrine Pathology

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volume

15

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page(s)

233-40

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issue

3

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cites work

1 reference

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Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

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Alpha-endosulfine, a positional and functional candidate gene for type 2 diabetes: molecular screening, association studies, and role in reduced insulin secretion.

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Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

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Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role

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A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

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Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

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The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians

1 reference

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ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures

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Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism

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Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism

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p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.

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Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor

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Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy

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Genetics of neonatal hyperinsulinism.

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Familial hyperinsulinism caused by an activating glucokinase mutation

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Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations

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Severe transient hyperinsulinaemic hypoglycaemia: two neonates without predisposing factors and a review of the literature.

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Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

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Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

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Potassium Channels, Sulphonylurea Receptors and Control of Insulin Release

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Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

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Family with autosomal dominant hyperinsulinism associated with A456V mutation in the glucokinase gene

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Hyperinsulinism in infants and children

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Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

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Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

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Genetic heterogeneity in familial hyperinsulinism.

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