PubMed

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.

Shield JP, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S.

Diabetes. 2008 Jan;57(1):255-8. Epub 2007 Oct 17.PMID: 17942821 [PubMed - indexed for MEDLINE]Related articlesFree article

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.

Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.

Diabetes. 2008 Jan;57(1):259-63. Epub 2007 Oct 17.PMID: 17942822 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S.

Hum Mol Genet. 2006 Jun 1;15(11):1793-800. Epub 2006 Apr 13.PMID: 16613899 [PubMed - indexed for MEDLINE]Related articlesFree article

Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.

Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ.

J Clin Endocrinol Metab. 2005 Jul;90(7):4376-82. Epub 2005 Apr 5.PMID: 15811927 [PubMed - indexed for MEDLINE]Related articlesFree article

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.

Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F.

J Clin Endocrinol Metab. 2008 Dec;93(12):4941-7. Epub 2008 Sep 16.PMID: 18796520 [PubMed - indexed for MEDLINE]Related articles

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT.

Diabetes. 2007 Jul;56(7):1930-7. Epub 2007 Apr 19. Erratum in: Diabetes. 2008 Feb;57(2):523. PMID: 17446535 [PubMed - indexed for MEDLINE]Related articlesFree article

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group.

Diabetes. 2007 Jun;56(6):1737-41. Epub 2007 Mar 27.PMID: 17389331 [PubMed - indexed for MEDLINE]Related articlesFree article

Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.

Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group.

Diabetes. 2008 Apr;57(4):1115-9. Epub 2008 Jan 2.PMID: 18171712 [PubMed - indexed for MEDLINE]Related articlesFree article

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM.

Am J Hum Genet. 2007 Aug;81(2):375-82. Epub 2007 Jun 29.PMID: 17668386 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular mechanisms of neonatal hyperinsulinism.

Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P.

Horm Res. 2006;66(6):289-96. Epub 2006 Sep 26. Review.PMID: 17003566 [PubMed - indexed for MEDLINE]Related articles

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

Darendeliler F, Fournet JC, Baş F, Junien C, Gross MS, Bundak R, Saka N, Günöz H.

J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):993-1000.PMID: 12199344 [PubMed - indexed for MEDLINE]Related articles

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA.

Mod Pathol. 2006 Jan;19(1):122-9.PMID: 16357843 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I.

J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9.PMID: 17213273 [PubMed - indexed for MEDLINE]Related articlesFree article

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.

de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch AM, Flanagan SE, Ellard S, Hattersley AT, Sansom MS, Ashcroft FM.

Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. Epub 2007 Nov 19.PMID: 18025464 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.

Am J Pathol. 2001 Jun;158(6):2177-84.PMID: 11395395 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.

Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S.

Diabetes Obes Metab. 2007 Nov;9 Suppl 2:28-39.PMID: 17919176 [PubMed - indexed for MEDLINE]Related articles

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Babenko AP, Polak M, Cavé H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P.

N Engl J Med. 2006 Aug 3;355(5):456-66.PMID: 16885549 [PubMed - indexed for MEDLINE]Related articlesFree article

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.

Tarasov AI, Nicolson TJ, Riveline JP, Taneja TK, Baldwin SA, Baldwin JM, Charpentier G, Gautier JF, Froguel P, Vaxillaire M, Rutter GA.

Diabetes. 2008 Jun;57(6):1595-604. Epub 2008 Mar 17.PMID: 18346985 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular basis of neonatal diabetes in Japanese patients.

Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K.

J Clin Endocrinol Metab. 2007 Oct;92(10):3979-85. Epub 2007 Jul 17. Erratum in: J Clin Endocrinol Metab. 2008 Jan;93(1):153. PMID: 17635943 [PubMed - indexed for MEDLINE]Related articlesFree article

Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.

Muzyamba M, Farzaneh T, Behe P, Thomas A, Christesen HB, Brusgaard K, Hussain K, Tinker A.

Clin Endocrinol (Oxf). 2007 Jul;67(1):115-24. Epub 2007 Apr 27.PMID: 17466004 [PubMed - indexed for MEDLINE]Related articles