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270 related items for PubMed ID: 9648840

  • 1. 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; 47(7):1145-51. PubMed ID: 9648840
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  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 27; 49(1):114-20. PubMed ID: 10615958
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  • 4. 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 Jan 27; 15(7):993-1000. PubMed ID: 12199344
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  • 5. 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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  • 6. Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism.
    Partridge CJ, Beech DJ, Sivaprasadarao A.
    J Biol Chem; 2001 Sep 21; 276(38):35947-52. PubMed ID: 11457841
    [Abstract] [Full Text] [Related]

  • 7. 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 21; 48(2):408-15. PubMed ID: 10334322
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  • 8. 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 21; 47(6):715-22. PubMed ID: 11228046
    [Abstract] [Full Text] [Related]

  • 9. Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
    Taschenberger G, Mougey A, Shen S, Lester LB, LaFranchi S, Shyng SL.
    J Biol Chem; 2002 May 10; 277(19):17139-46. PubMed ID: 11867634
    [Abstract] [Full Text] [Related]

  • 10. Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy.
    MacFarlane WM, Chapman JC, Shepherd RM, Hashmi MN, Kamimura N, Cosgrove KE, O'Brien RE, Barnes PD, Hart AW, Docherty HM, Lindley KJ, Aynsley-Green A, James RF, Docherty K, Dunne MJ.
    J Biol Chem; 1999 Nov 26; 274(48):34059-66. PubMed ID: 10567373
    [Abstract] [Full Text] [Related]

  • 11. Adenosine diphosphate as an intracellular regulator of insulin secretion.
    Nichols CG, Shyng SL, Nestorowicz A, Glaser B, Clement JP, Gonzalez G, Aguilar-Bryan L, Permutt MA, Bryan J.
    Science; 1996 Jun 21; 272(5269):1785-7. PubMed ID: 8650576
    [Abstract] [Full Text] [Related]

  • 12. Regulation of KATP channel activity by diazoxide and MgADP. Distinct functions of the two nucleotide binding folds of the sulfonylurea receptor.
    Shyng S, Ferrigni T, Nichols CG.
    J Gen Physiol; 1997 Dec 21; 110(6):643-54. PubMed ID: 9382893
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  • 15. Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
    Yan FF, Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL.
    Diabetes; 2007 Sep 21; 56(9):2339-48. PubMed ID: 17575084
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  • 16. C-terminal tails of sulfonylurea receptors control ADP-induced activation and diazoxide modulation of ATP-sensitive K(+) channels.
    Matsuoka T, Matsushita K, Katayama Y, Fujita A, Inageda K, Tanemoto M, Inanobe A, Yamashita S, Matsuzawa Y, Kurachi Y.
    Circ Res; 2000 Nov 10; 87(10):873-80. PubMed ID: 11073882
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  • 17. An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus.
    Kukuvitis A, Deal C, Arbour L, Polychronakos C.
    J Clin Endocrinol Metab; 1997 Apr 10; 82(4):1192-4. PubMed ID: 9100595
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  • 20. 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 10; 106(7):897-906. PubMed ID: 11018078
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