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1087 related items for PubMed ID: 17296510

  • 1. 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. PubMed ID: 17296510
    [Abstract] [Full Text] [Related]

  • 2. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
    Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT.
    N Engl J Med; 2004 Apr 29; 350(18):1838-49. PubMed ID: 15115830
    [Abstract] [Full Text] [Related]

  • 3. Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.
    Flechtner I, Vaxillaire M, Cavé H, Scharfmann R, Froguel P, Polak M.
    Endocr Dev; 2007 Apr 29; 12():86-98. PubMed ID: 17923772
    [Abstract] [Full Text] [Related]

  • 4. Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.
    Biagiotti L, Proverbio MC, Bosio L, Gervasi F, Rovida E, Cerioni V, Bove M, Valin PS, Albarello L, Zamproni I, Grassi S, Doglioni C, Mora S, Chiumello G, Biunno I.
    Exp Mol Pathol; 2007 Aug 29; 83(1):59-64. PubMed ID: 17316607
    [Abstract] [Full Text] [Related]

  • 5. Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
    Proks P, Girard C, Baevre H, Njølstad PR, Ashcroft FM.
    Diabetes; 2006 Jun 29; 55(6):1731-7. PubMed ID: 16731836
    [Abstract] [Full Text] [Related]

  • 6. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
    Shimomura K, Girard CA, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, Ashcroft FM.
    Diabetes; 2006 Jun 29; 55(6):1705-12. PubMed ID: 16731833
    [Abstract] [Full Text] [Related]

  • 7. Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation.
    D'Amato E, Tammaro P, Craig TJ, Tosi A, Giorgetti R, Lorini R, Ashcroft FM.
    Diabet Med; 2008 Jun 29; 25(6):651-6. PubMed ID: 18544102
    [Abstract] [Full Text] [Related]

  • 8. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
    Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.
    Eur J Hum Genet; 2006 Jul 29; 14(7):824-30. PubMed ID: 16670688
    [Abstract] [Full Text] [Related]

  • 9. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
    Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F, Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.
    Hum Mutat; 2005 Jan 29; 25(1):22-7. PubMed ID: 15580558
    [Abstract] [Full Text] [Related]

  • 10. Gene targeting approach to clarification of ion channel function: studies of Kir6.x null mice.
    Seino S, Miki T.
    J Physiol; 2004 Jan 15; 554(Pt 2):295-300. PubMed ID: 12826653
    [Abstract] [Full Text] [Related]

  • 11. Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide.
    Bremer AA, Ranadive S, Lustig RH.
    Pediatr Diabetes; 2008 Jun 15; 9(3 Pt 1):236-9. PubMed ID: 18221420
    [Abstract] [Full Text] [Related]

  • 12. [Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2].
    Ille J, Putarek NR, Radica A, Hattersley A, Ellard S, Dumić M.
    Lijec Vjesn; 2010 Jun 15; 132(3-4):90-3. PubMed ID: 20540435
    [Abstract] [Full Text] [Related]

  • 13. Identification of mutations in the Kir6.2 subunit of the K(ATP) channel.
    Flanagan SE, Ellard S.
    Methods Mol Biol; 2008 Jun 15; 491():235-45. PubMed ID: 18998097
    [Abstract] [Full Text] [Related]

  • 14. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
    Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F.
    Neurology; 2007 Sep 25; 69(13):1342-9. PubMed ID: 17652641
    [Abstract] [Full Text] [Related]

  • 15. Iptakalim, a vascular ATP-sensitive potassium (KATP) channel opener, closes rat pancreatic beta-cell KATP channels and increases insulin release.
    Misaki N, Mao X, Lin YF, Suga S, Li GH, Liu Q, Chang Y, Wang H, Wakui M, Wu J.
    J Pharmacol Exp Ther; 2007 Aug 25; 322(2):871-8. PubMed ID: 17522344
    [Abstract] [Full Text] [Related]

  • 16. KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
    Ioannou YS, Ellard S, Hattersley A, Skordis N.
    Pediatr Diabetes; 2011 Mar 25; 12(2):133-7. PubMed ID: 21352428
    [Abstract] [Full Text] [Related]

  • 17. 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 25; 15(7):993-1000. PubMed ID: 12199344
    [Abstract] [Full Text] [Related]

  • 18. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.
    Mlynarski W, Tarasov AI, Gach A, Girard CA, Pietrzak I, Zubcevic L, Kusmierek J, Klupa T, Malecki MT, Ashcroft FM.
    Nat Clin Pract Neurol; 2007 Nov 25; 3(11):640-5. PubMed ID: 17982434
    [Abstract] [Full Text] [Related]

  • 19. Molecular biology of adenosine triphosphate-sensitive potassium channels.
    Aguilar-Bryan L, Bryan J.
    Endocr Rev; 1999 Apr 25; 20(2):101-35. PubMed ID: 10204114
    [Abstract] [Full Text] [Related]

  • 20. [Diabetes in infants may be treated with sulfonylurea as a replacement for insulin].
    Lauridsen MH, Boesgaard TW, Pedersen OB, Hansen T, Hertz B.
    Ugeskr Laeger; 2009 Jun 01; 171(23):1923-4. PubMed ID: 19500515
    [Abstract] [Full Text] [Related]

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