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Journal Abstract Search

548 related items for PubMed ID: 16416420

  • 1. 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. PubMed ID: 16416420
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  • 3. 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 Mar; 15(7):993-1000. PubMed ID: 12199344
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  • 5. Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
    De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE.
    Hum Mutat; 2020 May; 41(5):884-905. PubMed ID: 32027066
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  • 6. Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.
    Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM.
    Diabetes; 2011 Jun; 60(6):1813-22. PubMed ID: 21617188
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  • 7. 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. PubMed ID: 19151370
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  • 8. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
    Edghill EL, Flanagan SE, Ellard S.
    Rev Endocr Metab Disord; 2010 Sep 20; 11(3):193-8. PubMed ID: 20922570
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  • 9. Hyperinsulinism in infancy--genetic aspects.
    Darendeliler F, Bas F.
    Pediatr Endocrinol Rev; 2006 Aug 20; 3 Suppl 3():521-6. PubMed ID: 17551476
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  • 10. Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
    Fernández-Marmiesse A, Salas A, Vega A, Fernández-Lorenzo JR, Barreiro J, Carracedo A.
    Hum Mutat; 2006 Feb 20; 27(2):214. PubMed ID: 16429405
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  • 11. Hyperinsulinism in mice with heterozygous loss of K(ATP) channels.
    Remedi MS, Rocheleau JV, Tong A, Patton BL, McDaniel ML, Piston DW, Koster JC, Nichols CG.
    Diabetologia; 2006 Oct 20; 49(10):2368-78. PubMed ID: 16924481
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  • 12. 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 01; 15(11):1793-800. PubMed ID: 16613899
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  • 13. 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 01; 32(6):569-80. PubMed ID: 17296510
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  • 14. 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 01; 57(6):1595-604. PubMed ID: 18346985
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  • 15. 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 01; 89(12):6224-34. PubMed ID: 15579781
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  • 16. Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
    Yan FF, Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL.
    Diabetes; 2007 Sep 01; 56(9):2339-48. PubMed ID: 17575084
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  • 17. 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 03; 355(5):456-66. PubMed ID: 16885549
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  • 18. [Congenital hyperinsulinism in newborn and infant].
    Giurgea I, Ribeiro MJ, Boddaert N, Touati G, Robert JJ, Saudubray JM, Jaubert F, Bellanné-Chantelot C, Brunelle F, Nihoul-Fékété C, de Lonlay P.
    Arch Pediatr; 2005 Nov 03; 12(11):1628-35. PubMed ID: 16198094
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  • 19. 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 03; 118(8):2877-86. PubMed ID: 18596924
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  • 20. 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 03; 75(5):440-8. PubMed ID: 19475716
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