370 related articles for article (PubMed ID: 20922570)
1. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Edghill EL; Flanagan SE; Ellard S
Rev Endocr Metab Disord; 2010 Sep; 11(3):193-8. PubMed ID: 20922570
[TBL] [Abstract][Full Text] [Related]
2. 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; 15(11):1793-800. PubMed ID: 16613899
[TBL] [Abstract][Full Text] [Related]
3. Permanent neonatal diabetes caused by a novel mutation.
Jain V; Flanagan SE; Ellard S
Indian Pediatr; 2012 Jun; 49(6):486-8. PubMed ID: 22796691
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 19351728
[TBL] [Abstract][Full Text] [Related]
5. The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity.
Fatehi M; Raja M; Carter C; Soliman D; Holt A; Light PE
Diabetes; 2012 Jan; 61(1):241-9. PubMed ID: 22187380
[TBL] [Abstract][Full Text] [Related]
6. 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; 355(5):456-66. PubMed ID: 16885549
[TBL] [Abstract][Full Text] [Related]
7. Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.
Winkler M; Lutz R; Russ U; Quast U; Bryan J
J Biol Chem; 2009 Mar; 284(11):6752-62. PubMed ID: 19139106
[TBL] [Abstract][Full Text] [Related]
8. New insights into K
Pipatpolkai T; Usher S; Stansfeld PJ; Ashcroft FM
Nat Rev Endocrinol; 2020 Jul; 16(7):378-393. PubMed ID: 32376986
[TBL] [Abstract][Full Text] [Related]
9. Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.
Zhou Q; Garin I; Castaño L; Argente J; Muñoz-Calvo MT; Perez de Nanclares G; Shyng SL
J Clin Endocrinol Metab; 2010 Dec; 95(12):E473-8. PubMed ID: 20810569
[TBL] [Abstract][Full Text] [Related]
10. 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; 60(6):1813-22. PubMed ID: 21617188
[TBL] [Abstract][Full Text] [Related]
11. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Flanagan SE; Patch AM; Mackay DJ; Edghill EL; Gloyn AL; Robinson D; Shield JP; Temple K; Ellard S; Hattersley AT
Diabetes; 2007 Jul; 56(7):1930-7. PubMed ID: 17446535
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
Patch AM; Flanagan SE; Boustred C; Hattersley AT; Ellard S
Diabetes Obes Metab; 2007 Nov; 9 Suppl 2(Suppl 2):28-39. PubMed ID: 17919176
[TBL] [Abstract][Full Text] [Related]
13. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Flanagan SE; Clauin S; Bellanné-Chantelot C; de Lonlay P; Harries LW; Gloyn AL; Ellard S
Hum Mutat; 2009 Feb; 30(2):170-80. PubMed ID: 18767144
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Gloyn AL; Siddiqui J; Ellard S
Hum Mutat; 2006 Mar; 27(3):220-31. PubMed ID: 16416420
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 17923772
[TBL] [Abstract][Full Text] [Related]
16. Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K
Ngoc CTB; Dien TM; De Franco E; Ellard S; Houghton JAL; Lan NN; Thao BP; Khanh NN; Flanagan SE; Craig ME; Dung VC
Front Endocrinol (Lausanne); 2021; 12():727083. PubMed ID: 34566892
[TBL] [Abstract][Full Text] [Related]
17. Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8).
Babenko AP; Vaxillaire M
FEBS Lett; 2011 Nov; 585(22):3555-9. PubMed ID: 22020219
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 18346985
[TBL] [Abstract][Full Text] [Related]
19. Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
Ellard S; Flanagan SE; Girard CA; Patch AM; Harries LW; Parrish A; Edghill EL; Mackay DJ; Proks P; Shimomura K; Haberland H; Carson DJ; Shield JP; Hattersley AT; Ashcroft FM
Am J Hum Genet; 2007 Aug; 81(2):375-82. PubMed ID: 17668386
[TBL] [Abstract][Full Text] [Related]
20. Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.
Hamming KS; Soliman D; Matemisz LC; Niazi O; Lang Y; Gloyn AL; Light PE
Diabetes; 2009 Oct; 58(10):2419-24. PubMed ID: 19587354
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]