PubMed

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

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

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

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

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

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

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJ, Shield JP, Freedenberg D, Noyes K, Ellard S, Ashcroft FM, Gribble FM, Hattersley AT.

Hum Mol Genet. 2005 Apr 1;14(7):925-34. Epub 2005 Feb 17.PMID: 15718250 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, Ashcroft FM.

J Clin Endocrinol Metab. 2009 Jul;94(7):2551-7. Epub 2009 Apr 7.PMID: 19351728 [PubMed - indexed for MEDLINE]Related articles

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.

Tarasov AI, Girard CA, Larkin B, Tammaro P, Flanagan SE, Ellard S, Ashcroft FM.

Diabetes Obes Metab. 2007 Nov;9 Suppl 2:46-55.PMID: 17919178 [PubMed - indexed for MEDLINE]Related articles

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

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

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. Epub 2007 Jul 25.PMID: 17652641 [PubMed - indexed for MEDLINE]Related articles

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

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

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. Erratum in: N Engl J Med. 2004 Sep 30;351(14):1470. PMID: 15115830 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

Proks P, Shimomura K, Craig TJ, Girard CA, Ashcroft FM.

Hum Mol Genet. 2007 Aug 15;16(16):2011-9. Epub 2007 Jun 21.PMID: 17584766 [PubMed - indexed for MEDLINE]Related articlesFree article

Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.

Proks P, Gribble FM, Adhikari R, Tucker SJ, Ashcroft FM.

J Physiol. 1999 Jan 1;514 ( Pt 1):19-25.PMID: 9831713 [PubMed - indexed for MEDLINE]Related articlesFree article