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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 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

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

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

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment.

Slingerland AS, Hattersley AT.

Ann Med. 2005;37(3):186-95. Review.PMID: 16019717 [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

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT.

Diabetologia. 2006 Jun;49(6):1190-7. Epub 2006 Apr 12.PMID: 16609879 [PubMed - indexed for MEDLINE]Related articles

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

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

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

[From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene]

Slingerland AS, Bruining GJ.

Ned Tijdschr Geneeskd. 2005 Dec 3;149(49):2732-6. Review. Dutch. PMID: 16375017 [PubMed - indexed for MEDLINE]Related articles

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;12:86-98.PMID: 17923772 [PubMed - indexed for MEDLINE]Related articles

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

Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.

Haider S, Antcliff JF, Proks P, Sansom MS, Ashcroft FM.

J Mol Cell Cardiol. 2005 Jun;38(6):927-36. Review.PMID: 15910877 [PubMed - indexed for MEDLINE]Related articles

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

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

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

New ABCC8 mutations in relapsing neonatal diabetes and clinical features.

Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, de Nanclares GP, Castano L, Froguel P, Polak M; SUR1-Neonatal Diabetes Study Group.

Diabetes. 2007 Jun;56(6):1737-41. Epub 2007 Mar 27.PMID: 17389331 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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