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Journal Abstract Search

227 related items for PubMed ID: 27118464

  • 21. Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
    Lin YW, Bushman JD, Yan FF, Haidar S, MacMullen C, Ganguly A, Stanley CA, Shyng SL.
    J Biol Chem; 2008 Apr 04; 283(14):9146-56. PubMed ID: 18250167
    [Abstract] [Full Text] [Related]

  • 22. An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
    Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F.
    Diabetes; 2007 Feb 04; 56(2):328-36. PubMed ID: 17259376
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. 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 29; 32(6):569-80. PubMed ID: 17296510
    [Abstract] [Full Text] [Related]

  • 25. Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.
    Tammaro P, Proks P, Ashcroft FM.
    J Physiol; 2006 Feb 15; 571(Pt 1):3-14. PubMed ID: 16339180
    [Abstract] [Full Text] [Related]

  • 26. Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
    Girard CA, Wunderlich FT, Shimomura K, Collins S, Kaizik S, Proks P, Abdulkader F, Clark A, Ball V, Zubcevic L, Bentley L, Clark R, Church C, Hugill A, Galvanovskis J, Cox R, Rorsman P, Brüning JC, Ashcroft FM.
    J Clin Invest; 2009 Jan 15; 119(1):80-90. PubMed ID: 19065048
    [Abstract] [Full Text] [Related]

  • 27. Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.
    Proks P, Girard C, Ashcroft FM.
    Hum Mol Genet; 2005 Sep 15; 14(18):2717-26. PubMed ID: 16087682
    [Abstract] [Full Text] [Related]

  • 28. 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]

  • 29. Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy.
    Lin CW, Lin YW, Yan FF, Casey J, Kochhar M, Pratt EB, Shyng SL.
    Diabetes; 2006 Jun 25; 55(6):1738-46. PubMed ID: 16731837
    [Abstract] [Full Text] [Related]

  • 30. ATP binding without hydrolysis switches sulfonylurea receptor 1 (SUR1) to outward-facing conformations that activate KATP channels.
    Sikimic J, McMillen TS, Bleile C, Dastvan F, Quast U, Krippeit-Drews P, Drews G, Bryan J.
    J Biol Chem; 2019 Mar 08; 294(10):3707-3719. PubMed ID: 30587573
    [Abstract] [Full Text] [Related]

  • 31. A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.
    Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL.
    J Biol Chem; 2006 Feb 03; 281(5):3006-12. PubMed ID: 16332676
    [Abstract] [Full Text] [Related]

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  • 34. KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
    Song J, Yang Y, Mauvais-Jarvis F, Wang YP, Niu T.
    BMC Med Genet; 2017 Jun 06; 18(1):64. PubMed ID: 28587604
    [Abstract] [Full Text] [Related]

  • 35. A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
    Tammaro P, Ashcroft FM.
    J Physiol; 2007 Nov 01; 584(Pt 3):743-53. PubMed ID: 17855752
    [Abstract] [Full Text] [Related]

  • 36. 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 01; 83(1):59-64. PubMed ID: 17316607
    [Abstract] [Full Text] [Related]

  • 37. New insights into KATP channel gene mutations and neonatal diabetes mellitus.
    Pipatpolkai T, Usher S, Stansfeld PJ, Ashcroft FM.
    Nat Rev Endocrinol; 2020 Jul 01; 16(7):378-393. PubMed ID: 32376986
    [Abstract] [Full Text] [Related]

  • 38. 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 01; 90(9):5401-6. PubMed ID: 15998776
    [Abstract] [Full Text] [Related]

  • 39. The K(ATP) channel and neonatal diabetes.
    Shimomura K.
    Endocr J; 2009 Sep 01; 56(2):165-75. PubMed ID: 18566517
    [Abstract] [Full Text] [Related]

  • 40. Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.
    Abbasi F, Saba S, Ebrahim-Habibi A, Sayahpour FA, Amiri P, Larijani B, Amoli MM.
    Mol Diagn Ther; 2012 Apr 01; 16(2):109-14. PubMed ID: 22471336
    [Abstract] [Full Text] [Related]

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