PubMed

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

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 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

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

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

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

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

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;119(1):80-90. doi: 10.1172/JCI35772. Epub 2008 Dec 8.PMID: 19065048 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Diabetes and insulin secretion: the ATP-sensitive K+ channel (K ATP) connection.

Koster JC, Permutt MA, Nichols CG.

Diabetes. 2005 Nov;54(11):3065-72. Review.PMID: 16249427 [PubMed - indexed for MEDLINE]Related articlesFree article

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group.

N Engl J Med. 2006 Aug 3;355(5):467-77.PMID: 16885550 [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

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 3;355(5):456-66.PMID: 16885549 [PubMed - indexed for MEDLINE]Related articlesFree article

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

The K(ATP) channel and neonatal diabetes.

Shimomura K.

Endocr J. 2009 Apr;56(2):165-75. Epub 2008 Jun 20. Review.PMID: 18566517 [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

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

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;9(3 Pt 1):236-9. Epub 2008 Jan 24.PMID: 18221420 [PubMed - indexed for MEDLINE]Related articles

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

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;57(6):1595-604. Epub 2008 Mar 17.PMID: 18346985 [PubMed - indexed for MEDLINE]Related articlesFree article