Literature DB >> 10193261

Hyperinsulinism: molecular aetiology of focal disease.

F Ryan1, D Devaney, C Joyce, A Nestorowicz, M A Permutt, B Glaser, D E Barton, P S Thornton.   

Abstract

Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.

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Year:  1998        PMID： 10193261      PMCID： PMC1717743          DOI： 10.1136/adc.79.5.445

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  8 in total

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

Authors:  P de Lonlay; J C Fournet; J Rahier; M S Gross-Morand; F Poggi-Travert; V Foussier; J P Bonnefont; M C Brusset; F Brunelle; J J Robert; C Nihoul-Fékété; J M Saudubray; C Junien
Journal:  J Clin Invest       Date:  1997-08-15       Impact factor: 14.808

2.  Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

Authors:  P S Thornton; M S Satin-Smith; K Herold; B Glaser; K C Chiu; A Nestorowicz; M A Permutt; L Baker; C A Stanley
Journal:  J Pediatr       Date:  1998-01       Impact factor: 4.406

3.  A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.

Authors:  A Nestorowicz; N Inagaki; T Gonoi; K P Schoor; B A Wilson; B Glaser; H Landau; C A Stanley; P S Thornton; S Seino; M A Permutt
Journal:  Diabetes       Date:  1997-11       Impact factor: 9.461

4.  Chromosome 11 allele loss in sporadic insulinoma.

Authors:  P Patel; S O'Rahilly; V Buckle; Y Nakamura; R C Turner; J S Wainscoat
Journal:  J Clin Pathol       Date:  1990-05       Impact factor: 3.411

5.  Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

Authors:  P M Thomas; G J Cote; N Wohllk; B Haddad; P M Mathew; W Rabl; L Aguilar-Bryan; R F Gagel; J Bryan
Journal:  Science       Date:  1995-04-21       Impact factor: 47.728

6.  Genetic heterogeneity in familial hyperinsulinism.

Authors:  A Nestorowicz; B Glaser; B A Wilson; S L Shyng; C G Nichols; C A Stanley; P S Thornton; M A Permutt
Journal:  Hum Mol Genet       Date:  1998-07       Impact factor: 6.150

7.  Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder.

Authors:  P S Thornton; A E Sumner; E D Ruchelli; R S Spielman; L Baker; C A Stanley
Journal:  J Pediatr       Date:  1991-11       Impact factor: 4.406

8.  Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

Authors:  R E Slatter; M Elliott; K Welham; M Carrera; P N Schofield; D E Barton; E R Maher
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318
  8 in total
  10 in total

1.  Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis.

Authors:  J Rahier; Y Guiot; C Sempoux
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

2.  Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.

Authors:  A Grimberg; R J Ferry; A Kelly; S Koo-McCoy; K Polonsky; B Glaser; M A Permutt; L Aguilar-Bryan; D Stafford; P S Thornton; L Baker; C A Stanley
Journal:  Diabetes       Date:  2001-02       Impact factor: 9.461

Review 3.  Practical management of hyperinsulinism in infancy.

Authors:  A Aynsley-Green; K Hussain; J Hall; J M Saudubray; C Nihoul-Fékété; P De Lonlay-Debeney; F Brunelle; T Otonkoski; P Thornton; K J Lindley
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

Review 4.  Genetics of neonatal hyperinsulinism.

Authors:  B Glaser; P Thornton; T Otonkoski; C Junien
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

Review 5.  Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy.

Authors:  R M Shepherd; K E Cosgrove; R E O'Brien; P D Barnes; C Ammälä; M J Dunne
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

6.  Exercise induced hypoglycaemic hyperinsulinism.

Authors:  T Meissner; T Otonkoski; R Feneberg; B Beinbrech; S Apostolidou; I Sipilä; F Schaefer; E Mayatepek
Journal:  Arch Dis Child       Date:  2001-03       Impact factor: 3.791

7.  Lessons in human biology from a monogenic pancreatic β cell disease.

Authors:  Benjamin Glaser
Journal:  J Clin Invest       Date:  2011-10       Impact factor: 14.808

8.  Targeting the cell cycle inhibitor p57Kip2 promotes adult human β cell replication.

Authors:  Dana Avrahami; Changhong Li; Ming Yu; Yang Jiao; Jia Zhang; Ali Naji; Seyed Ziaie; Benjamin Glaser; Klaus H Kaestner
Journal:  J Clin Invest       Date:  2014-01-16       Impact factor: 14.808

Review 9.  Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism.

Authors:  Anke Hoffmann; Dietmar Spengler
Journal:  World J Biol Chem       Date:  2015-08-26

10.  Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism.

Authors:  Ruth Shemer; Carmit Avnon Ziv; Efrat Laiba; Qing Zhou; Joel Gay; Sharona Tunovsky-Babaey; Show-Ling Shyng; Benjamin Glaser; David H Zangen
Journal:  Diabetes       Date:  2011-11-21       Impact factor: 9.461
  10 in total

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