These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 22796691)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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. PubMed ID: 17213273
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.
    Jahnavi S; Poovazhagi V; Mohan V; Bodhini D; Raghupathy P; Amutha A; Suresh Kumar P; Adhikari P; Shriraam M; Kaur T; Das AK; Molnes J; Njolstad PR; Unnikrishnan R; Radha V
    Clin Genet; 2013 May; 83(5):439-45. PubMed ID: 22831748
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
    Shield JP; Flanagan SE; Mackay DJ; Harries LW; Proks P; Girard C; Ashcroft FM; Temple IK; Ellard S
    Diabetes; 2008 Jan; 57(1):255-8. PubMed ID: 17942821
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.
    de Wet H; Proks P; Lafond M; Aittoniemi J; Sansom MS; Flanagan SE; Pearson ER; Hattersley AT; Ashcroft FM
    EMBO Rep; 2008 Jul; 9(7):648-54. PubMed ID: 18497752
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.
    Hartemann-Heurtier A; Simon A; Bellanné-Chantelot C; Reynaud R; Cavé H; Polak M; Vaxillaire M; Grimaldi A
    Diabetes Metab; 2009 Jun; 35(3):233-5. PubMed ID: 19342262
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
    Greeley SA; Naylor RN; Philipson LH; Bell GI
    Curr Diab Rep; 2011 Dec; 11(6):519-32. PubMed ID: 21993633
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene.
    Oztekin O; Durmaz E; Kalay S; Flanagan SE; Ellard S; Bircan I
    J Perinatol; 2012 Aug; 32(8):645-7. PubMed ID: 22842804
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Heterozygous ABCC8 mutations are a cause of MODY.
    Bowman P; Flanagan SE; Edghill EL; Damhuis A; Shepherd MH; Paisey R; Hattersley AT; Ellard S
    Diabetologia; 2012 Jan; 55(1):123-7. PubMed ID: 21989597
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.
    Lin YW; Akrouh A; Hsu Y; Hughes N; Nichols CG; De León DD
    Channels (Austin); 2012; 6(2):133-8. PubMed ID: 22562119
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.