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    Results: 1 to 20 of 131

    1.

    Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence.

    Abdulhadi-Atwan M, Bushman J, Tornovsky-Babaey S, Perry A, Abu-Libdeh A, Glaser B, Shyng SL, Zangen DH.

    Diabetes. 2008 Jul;57(7):1935-40. Epub 2008 Apr 4. Erratum in: Diabetes. 2008 Sep;57(9):2552. Bushmann, Jeremy [corrected to Bushman, Jeremy]. PMID: 18390792 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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

    3.

    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

    4.

    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

    5.

    Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

    Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S.

    Hum Mutat. 2009 Feb;30(2):170-80. Review.PMID: 18767144 [PubMed - indexed for MEDLINE]Related articles

    6.

    Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.

    Flechtner I, de Lonlay P, Polak M.

    Diabetes Metab. 2006 Dec;32(6):569-80. Review.PMID: 17296510 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

    Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B.

    J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34.PMID: 15579781 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

    Marthinet E, Bloc A, Oka Y, Tanizawa Y, Wehrle-Haller B, Bancila V, Dubuis JM, Philippe J, Schwitzgebel VM.

    J Clin Endocrinol Metab. 2005 Sep;90(9):5401-6. Epub 2005 Jul 5.PMID: 15998776 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.

    Pratt EB, Yan FF, Gay JW, Stanley CA, Shyng SL.

    J Biol Chem. 2009 Mar 20;284(12):7951-9. Epub 2009 Jan 16.PMID: 19151370 [PubMed - indexed for MEDLINE]Related articles

    10.

    Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

    Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.

    J Clin Invest. 2008 Aug;118(8):2877-86.PMID: 18596924 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Carriers of an inactivating beta-cell ATP-sensitive K(+) channel mutation have normal glucose tolerance and insulin sensitivity and appropriate insulin secretion.

    Huopio H, Vauhkonen I, Komulainen J, Niskanen L, Otonkoski T, Laakso M.

    Diabetes Care. 2002 Jan;25(1):101-6.PMID: 11772909 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

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

    Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, Otonkoski T.

    J Clin Invest. 2000 Oct;106(7):897-906.PMID: 11018078 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.

    Sandal T, Laborie LB, Brusgaard K, Eide SA, Christesen HB, Søvik O, Njølstad PR, Molven A.

    Clin Genet. 2009 May;75(5):440-8.PMID: 19475716 [PubMed - indexed for MEDLINE]Related articles

    14.

    Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

    Gloyn AL, Siddiqui J, Ellard S.

    Hum Mutat. 2006 Mar;27(3):220-31. Review.PMID: 16416420 [PubMed - indexed for MEDLINE]Related articles

    15.

    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

    16.

    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

    17.

    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

    18.

    Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.

    Cartier EA, Conti LR, Vandenberg CA, Shyng SL.

    Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2882-7.PMID: 11226335 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).

    Masia R, De Leon DD, MacMullen C, McKnight H, Stanley CA, Nichols CG.

    Diabetes. 2007 May;56(5):1357-62. Epub 2007 Feb 22.PMID: 17317760 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

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

    Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, Laakso M.

    Lancet. 2003 Jan 25;361(9354):301-7.PMID: 12559865 [PubMed - indexed for MEDLINE]Related articles

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