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Journal Abstract Search

157 related items for PubMed ID: 10334322

  • 1. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
    Otonkoski T, Ammälä C, Huopio H, Cote GJ, Chapman J, Cosgrove K, Ashfield R, Huang E, Komulainen J, Ashcroft FM, Dunne MJ, Kere J, Thomas PM.
    Diabetes; 1999 Feb; 48(2):408-15. PubMed ID: 10334322
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  • 2. Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.
    Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, Oka Y.
    Diabetes; 2000 Jan; 49(1):114-20. PubMed ID: 10615958
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  • 3. Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
    Cartier EA, Conti LR, Vandenberg CA, Shyng SL.
    Proc Natl Acad Sci U S A; 2001 Feb 27; 98(5):2882-7. PubMed ID: 11226335
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  • 4. Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
    Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG.
    Diabetes; 1998 Jul 27; 47(7):1145-51. PubMed ID: 9648840
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  • 5. Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients.
    Someya T, Miki T, Sugihara S, Minagawa M, Yasuda T, Kohno Y, Seino S.
    Endocr J; 2000 Dec 27; 47(6):715-22. PubMed ID: 11228046
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  • 6. ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.
    Darendeliler F, Fournet JC, Baş F, Junien C, Gross MS, Bundak R, Saka N, Günöz H.
    J Pediatr Endocrinol Metab; 2002 Dec 27; 15(7):993-1000. PubMed ID: 12199344
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  • 7. Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy.
    Taguchi T, Suita S, Ohkubo K, Ono J.
    J Pediatr Surg; 2002 Apr 27; 37(4):593-8. PubMed ID: 11912517
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  • 8. Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.
    Fournet JC, Verkarre V, De Lonlay P, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.
    Ann Endocrinol (Paris); 1998 Apr 27; 59(6):485-91. PubMed ID: 10189991
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  • 9. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
    Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.
    J Clin Invest; 1998 Oct 01; 102(7):1286-91. PubMed ID: 9769320
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  • 12. Carriers of an inactivating beta-cell ATP-sensitive K(+) channel mutation have normal glucose tolerance and insulin sensitivity and appropriate insulin secretion.
    Huopio H, Vauhkonen I, Komulainen J, Niskanen L, Otonkoski T, Laakso M.
    Diabetes Care; 2002 Jan 01; 25(1):101-6. PubMed ID: 11772909
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  • 14. Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy.
    Matsuo M, Trapp S, Tanizawa Y, Kioka N, Amachi T, Oka Y, Ashcroft FM, Ueda K.
    J Biol Chem; 2000 Dec 29; 275(52):41184-91. PubMed ID: 10993895
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  • 18. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
    Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, Otonkoski T.
    J Clin Invest; 2000 Oct 29; 106(7):897-906. PubMed ID: 11018078
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  • 20. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.
    Thomas P, Ye Y, Lightner E.
    Hum Mol Genet; 1996 Nov 29; 5(11):1809-12. PubMed ID: 8923010
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