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    Results: 1 to 20 of 471

    1.

    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;55(6):1738-46.PMID: 16731837 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

    Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM.

    Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17539-44. Epub 2004 Dec 6.PMID: 15583126 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    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;55(6):1705-12. Erratum in: Diabetes. 2007 Mar;56(3):897. Hattersely, Andrew T [corrected to Hattersley, Andrew T]. PMID: 16731833 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    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;55(6):1731-7.PMID: 16731836 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.

    Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM.

    Diabetologia. 2008 May;51(5):802-10. Epub 2008 Mar 12.PMID: 18335204 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    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

    7.

    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. Epub 2005 Aug 8.PMID: 16087682 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    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. Epub 2005 Dec 8.PMID: 16339180 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    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

    10.

    Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

    Girard CA, Shimomura K, Proks P, Absalom N, Castano L, Perez de Nanclares G, Ashcroft FM.

    Pflugers Arch. 2006 Dec;453(3):323-32. Epub 2006 Sep 22.PMID: 17021801 [PubMed - indexed for MEDLINE]Related articles

    11.

    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 4;283(14):9146-56. Epub 2008 Feb 4.PMID: 18250167 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    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

    13.

    Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.

    Winkler M, Lutz R, Russ U, Quast U, Bryan J.

    J Biol Chem. 2009 Mar 13;284(11):6752-62. Epub 2009 Jan 12.PMID: 19139106 [PubMed - indexed for MEDLINE]Related articles

    14.

    Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.

    Tammaro P, Girard C, Molnes J, Njølstad PR, Ashcroft FM.

    EMBO J. 2005 Jul 6;24(13):2318-30. Epub 2005 Jun 16.PMID: 15962003 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy.

    Koster JC, Remedi MS, Dao C, Nichols CG.

    Diabetes. 2005 Sep;54(9):2645-54.PMID: 16123353 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    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;56(2):328-36.PMID: 17259376 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Sulfonylurea and K(+)-channel opener sensitivity of K(ATP) channels. Functional coupling of Kir6.2 and SUR1 subunits.

    Koster JC, Sha Q, Nichols CG.

    J Gen Physiol. 1999 Aug;114(2):203-13.PMID: 10435998 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

    Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MS, Ashcroft FM.

    EMBO Rep. 2005 May;6(5):470-5.PMID: 15864298 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

    Hattersley AT, Ashcroft FM.

    Diabetes. 2005 Sep;54(9):2503-13. Review.PMID: 16123337 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells.

    Tarasov AI, Welters HJ, Senkel S, Ryffel GU, Hattersley AT, Morgan NG, Ashcroft FM.

    Diabetes. 2006 Nov;55(11):3075-82.PMID: 17065345 [PubMed - indexed for MEDLINE]Related articlesFree article

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