PubMed

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR.

Diabetes. 2004 Oct;53(10):2713-8.PMID: 15448106 [PubMed - indexed for MEDLINE]Related articlesFree article

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.

Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ.

Diabetologia. 2006 Nov;49(11):2559-63. Epub 2006 Sep 19.PMID: 17047922 [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

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

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

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

Kim MS, Kim SY, Kim GH, Yoo HW, Lee DW, Lee DY.

J Korean Med Sci. 2007 Aug;22(4):616-20.PMID: 17728498 [PubMed - indexed for MEDLINE]Related articlesFree article

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

Vaxillaire M, Populaire C, Busiah K, Cavé H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M.

Diabetes. 2004 Oct;53(10):2719-22.PMID: 15448107 [PubMed - indexed for MEDLINE]Related articlesFree article

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT; Neonatal Diabetes International Collaborative Group.

Diabetes Care. 2008 Feb;31(2):204-9. Epub 2007 Nov 19.PMID: 18025408 [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

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

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene.

Tonini G, Bizzarri C, Bonfanti R, Vanelli M, Cerutti F, Faleschini E, Meschi F, Prisco F, Ciacco E, Cappa M, Torelli C, Cauvin V, Tumini S, Iafusco D, Barbetti F; Early-Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology.

Diabetologia. 2006 Sep;49(9):2210-3. Epub 2006 Jul 1. No abstract available. PMID: 16816952 [PubMed - indexed for MEDLINE]Related articles

The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5'-triphosphate-sensitive potassium channel subunit Kir6.2 is associated with an increased risk of secondary failure to sulfonylurea in patients with type 2 diabetes.

Sesti G, Laratta E, Cardellini M, Andreozzi F, Del Guerra S, Irace C, Gnasso A, Grupillo M, Lauro R, Hribal ML, Perticone F, Marchetti P.

J Clin Endocrinol Metab. 2006 Jun;91(6):2334-9. Epub 2006 Apr 4.PMID: 16595597 [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

Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy.

Wagner VM, Kremke B, Hiort O, Flanagan SE, Pearson ER.

Eur J Pediatr. 2009 Mar;168(3):359-61. Epub 2008 Jun 12.PMID: 18548275 [PubMed - indexed for MEDLINE]Related articles

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

Zung A, Glaser B, Nimri R, Zadik Z.

J Clin Endocrinol Metab. 2004 Nov;89(11):5504-7.PMID: 15531505 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I.

J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9.PMID: 17213273 [PubMed - indexed for MEDLINE]Related articlesFree article

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation.

Klupa T, Edghill EL, Nazim J, Sieradzki J, Ellard S, Hattersley AT, Malecki MT.

Diabetologia. 2005 May;48(5):1029-31. Epub 2005 Apr 19. No abstract available. PMID: 15838686 [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

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Hum Mutat. 2005 Jan;25(1):22-7.PMID: 15580558 [PubMed - indexed for MEDLINE]Related articles

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.

Eur J Hum Genet. 2006 Jul;14(7):824-30. Epub 2006 May 3.PMID: 16670688 [PubMed - indexed for MEDLINE]Related articlesFree article