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Article

Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.

Annales d'endocrinologie - 1 Jan 1998

Fournet J C, Verkarre V, De Lonlay P, Rahier J, Brunelle F, Robert J J, Nihoul-Fékété C, Saudubray J M, Junien C

Abstract excerpt

Two types of histopathological lesions, a focal adenomatous hyperplasia of islet cells of the pancreas in about 30% of operated sporadic cases, and a diffuse form can be observed in congenital hyperinsulinism, or Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI). In sporadic focal forms, specific losses of maternal alleles (LOH) of the imprinted chromosomal region 11p15, restricted to the hyperplastic...

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PMID: 10189991

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Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.PMID 10189991Read ↗

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

Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.Semantic proximity Read ↗

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.Semantic proximity Read ↗

Molecular Mechanisms of Neonatal HyperinsulinismSemantic proximity Read ↗

Congenital hyperinsulinism and mosaic abnormalities of the ploidySemantic proximity Read ↗

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinismSemantic proximity Read ↗

p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.Semantic proximity Read ↗

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.Semantic proximity Read ↗

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.Semantic proximity Read ↗

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