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    Results: 1 to 20 of 21

    1.

    Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

    Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.

    Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.

    PMID:
    23273570
    [PubMed - indexed for MEDLINE]
    2.

    Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.

    Faletra F, Snider K, Shyng SL, Bruno I, Athanasakis E, Gasparini P, Dionisi-Vici C, Ventura A, Zhou Q, Stanley CA, Burlina A.

    Gene. 2013 Mar 1;516(1):122-5. doi: 10.1016/j.gene.2012.12.055. Epub 2012 Dec 22.

    PMID:
    23266803
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Incretin effect of glucagon-like peptide 1 receptor agonist is preserved in presence of ABCC8/SUR1 mutation in β-cell.

    Bourron O, Chebbi F, Halbron M, Saint-Martin C, Bellanné-Chantelot C, Abed A, Charbit B, Magnan C, Lacorte JM, Hartemann A.

    Diabetes Care. 2012 Nov;35(11):e76. doi: 10.2337/dc12-0535. No abstract available.

    PMID:
    23093687
    [PubMed - indexed for MEDLINE]
    4.

    The common C49620T polymorphism in the sulfonylurea receptor gene SUR1 (ABCC8) in patients with gestational diabetes and subsequent glucose metabolism abnormalities.

    Molęda P, Bińczak-Kuleta A, Homa K, Safranow K, Celewicz Z, Syrenicz A, Stefański A, Fronczyk A, Majkowska L.

    Exp Diabetes Res. 2012;2012:712617. doi: 10.1155/2012/712617. Epub 2012 Aug 15.

    PMID:
    22927833
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    ABCC8 polymorphisms are associated with triglyceride concentration in type 2 diabetics on sulfonylurea therapy.

    Nikolac N, Simundic AM, Saracevic A, Katalinic D.

    Genet Test Mol Biomarkers. 2012 Aug;16(8):924-30. doi: 10.1089/gtmb.2011.0337. Epub 2012 Apr 25.

    PMID:
    22533711
    [PubMed - indexed for MEDLINE]
    6.

    Association of C49620T ABCC8 polymorphism with anthropometric and metabolic parameters in patients with autosomal dominant polycystic kidney disease: a preliminary study.

    Pietrzak-Nowacka M, Safranow K, Bińczak-Kuleta A, Rózański J, Ciechanowski K, Ciechanowicz A.

    Nefrologia. 2012;32(2):153-9. doi: 10.3265/Nefrologia.pre2011.Dec.10663. English, Spanish.

    PMID:
    22466262
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation.

    Klee P, Bellanné-Chantelot C, Depret G, Llano JP, Paget C, Nicolino M.

    Diabetes Metab. 2012 Apr;38(2):179-82. doi: 10.1016/j.diabet.2011.12.001. Epub 2012 Feb 11.

    PMID:
    22326206
    [PubMed - indexed for MEDLINE]
    Free Article
    8.

    Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.

    Mak CM, Lee CY, Lam CW, Siu WK, Hung VC, Chan AY.

    Diagn Mol Pathol. 2012 Mar;21(1):56-9. doi: 10.1097/PDM.0b013e318220bb0e.

    PMID:
    22306677
    [PubMed - indexed for MEDLINE]
    9.

    Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations.

    Riveline JP, Rousseau E, Reznik Y, Fetita S, Philippe J, Dechaume A, Hartemann A, Polak M, Petit C, Charpentier G, Gautier JF, Froguel P, Vaxillaire M.

    Diabetes Care. 2012 Feb;35(2):248-51. doi: 10.2337/dc11-1469. Epub 2011 Dec 30.

    PMID:
    22210575
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    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. doi: 10.2337/db11-0371.

    PMID:
    22187380
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    The Ser1369Ala variant of ABCC8 and the risk for severe sulfonylurea-induced hypoglycemia in German patients with Type 2 diabetes.

    Holstein JD, Kovacs P, Patzer O, Stumvoll M, Holstein A.

    Pharmacogenomics. 2012 Jan;13(1):5-7; author reply 9-10. doi: 10.2217/pgs.11.150. No abstract available.

    PMID:
    22176616
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism.

    Shemer R, Avnon Ziv C, Laiba E, Zhou Q, Gay J, Tunovsky-Babaey S, Shyng SL, Glaser B, Zangen DH.

    Diabetes. 2012 Jan;61(1):258-63. doi: 10.2337/db11-0984. Epub 2011 Nov 21.

    PMID:
    22106158
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Sequential activation of hypoxia-inducible factor 1 and specificity protein 1 is required for hypoxia-induced transcriptional stimulation of Abcc8.

    Woo SK, Kwon MS, Geng Z, Chen Z, Ivanov A, Bhatta S, Gerzanich V, Simard JM.

    J Cereb Blood Flow Metab. 2012 Mar;32(3):525-36. doi: 10.1038/jcbfm.2011.159. Epub 2011 Nov 16.

    PMID:
    22086197
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    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 16;585(22):3555-9. doi: 10.1016/j.febslet.2011.10.020. Epub 2011 Oct 19.

    PMID:
    22020219
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.

    Thakur S, Flanagan SE, Ellard S, Verma IC.

    Indian Pediatr. 2011 Sep;48(9):733-4.

    PMID:
    21992908
    [PubMed - indexed for MEDLINE]
    16.

    Effective treatment of diabetes caused by activating ABCC8/SUR1 mutation with glimepiride.

    Karges B, Schnur D, Ellard S, Kentrup H, Karges W.

    Diabet Med. 2012 May;29(5):692-3. doi: 10.1111/j.1464-5491.2011.03487.x. No abstract available.

    PMID:
    21992555
    [PubMed - indexed for MEDLINE]
    17.

    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. doi: 10.1007/s00125-011-2319-x. Epub 2011 Oct 12.

    PMID:
    21989597
    [PubMed - indexed for MEDLINE]
    18.

    Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.

    Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S.

    Pediatr Diabetes. 2012 May;13(3):285-9. doi: 10.1111/j.1399-5448.2011.00821.x. Epub 2011 Oct 7.

    PMID:
    21978130
    [PubMed - indexed for MEDLINE]
    19.

    Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene.

    Kapoor RR, Flanagan SE, Ellard S, Hussain K.

    Clin Endocrinol (Oxf). 2012 Feb;76(2):312-3. doi: 10.1111/j.1365-2265.2011.04203.x. No abstract available.

    PMID:
    21851374
    [PubMed - indexed for MEDLINE]
    20.

    ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.

    Glaser B, Blech I, Krakinovsky Y, Ekstein J, Gillis D, Mazor-Aronovitch K, Landau H, Abeliovich D.

    Genet Med. 2011 Oct;13(10):891-4. doi: 10.1097/GIM.0b013e31821fea33.

    PMID:
    21716120
    [PubMed - indexed for MEDLINE]

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