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360 related items for PubMed ID: 16731836
1. 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. PubMed ID: 16731836 [Abstract] [Full Text] [Related]
2. 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. PubMed ID: 16731833 [Abstract] [Full Text] [Related]
3. 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. PubMed ID: 17652641 [Abstract] [Full Text] [Related]
4. 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 25; 32(6):569-80. PubMed ID: 17296510 [Abstract] [Full Text] [Related]
5. 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. PubMed ID: 15115830 [Abstract] [Full Text] [Related]
6. Iptakalim, a vascular ATP-sensitive potassium (KATP) channel opener, closes rat pancreatic beta-cell KATP channels and increases insulin release. Misaki N, Mao X, Lin YF, Suga S, Li GH, Liu Q, Chang Y, Wang H, Wakui M, Wu J. J Pharmacol Exp Ther; 2007 Aug 29; 322(2):871-8. PubMed ID: 17522344 [Abstract] [Full Text] [Related]
7. Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation. Ješić MM, Ješić MD, Maglajlić S, Sajić S, Necić S. Diabetes Res Clin Pract; 2011 Jan 29; 91(1):e1-3. PubMed ID: 21056492 [Abstract] [Full Text] [Related]
8. 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. PubMed ID: 15583126 [Abstract] [Full Text] [Related]
9. 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 14; 453(3):323-32. PubMed ID: 17021801 [Abstract] [Full Text] [Related]
10. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Mlynarski W, Tarasov AI, Gach A, Girard CA, Pietrzak I, Zubcevic L, Kusmierek J, Klupa T, Malecki MT, Ashcroft FM. Nat Clin Pract Neurol; 2007 Nov 14; 3(11):640-5. PubMed ID: 17982434 [Abstract] [Full Text] [Related]
11. 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 14; 55(6):1738-46. PubMed ID: 16731837 [Abstract] [Full Text] [Related]
12. 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 14; 9(3 Pt 1):236-9. PubMed ID: 18221420 [Abstract] [Full Text] [Related]
13. 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 14; 51(5):802-10. PubMed ID: 18335204 [Abstract] [Full Text] [Related]
14. 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 14; 9 Suppl 2():46-55. PubMed ID: 17919178 [Abstract] [Full Text] [Related]
17. Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. Vedovato N, Cliff E, Proks P, Poovazhagi V, Flanagan SE, Ellard S, Hattersley AT, Ashcroft FM. Diabetologia; 2016 Jul 06; 59(7):1430-1436. PubMed ID: 27118464 [Abstract] [Full Text] [Related]
18. Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes. Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM. Diabetes; 2011 Jun 06; 60(6):1813-22. PubMed ID: 21617188 [Abstract] [Full Text] [Related]
19. Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation. D'Amato E, Tammaro P, Craig TJ, Tosi A, Giorgetti R, Lorini R, Ashcroft FM. Diabet Med; 2008 Jun 06; 25(6):651-6. PubMed ID: 18544102 [Abstract] [Full Text] [Related]
20. Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity. Malecki MT, Skupien J, Klupa T, Wanic K, Mlynarski W, Gach A, Solecka I, Sieradzki J. Diabetes Care; 2007 Jan 06; 30(1):147-9. PubMed ID: 17192350 [No Abstract] [Full Text] [Related] Page: [Next] [New Search]