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Items: 1 to 20 of 147

1.

Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.

Thomas PM, Wohllk N, Huang E, Kuhnle U, Rabl W, Gagel RF, Cote GJ.

Am J Hum Genet. 1996 Sep;59(3):510-8.

2.

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J.

Science. 1995 Apr 21;268(5209):426-9.

PMID:
7716548
3.

Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor.

Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, Aynsley-Green A, Lu S, Clement JP 4th, Lindley KJ, Seino S, Aguilar-Bryan L.

N Engl J Med. 1997 Mar 6;336(10):703-6. No abstract available.

4.

The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy.

Thomas PM, Cote GJ, Wohllk N, Mathew PM, Gagel RF.

Proc Assoc Am Physicians. 1996 Jan;108(1):14-9.

PMID:
8834059
5.

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;82(4):1192-4.

PMID:
9100595
6.

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 1;102(7):1286-91.

7.

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.

PMID:
9648840
8.

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.

PMID:
10615958
9.

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.

PMID:
10334322
10.
11.

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 Jul-Aug;15(7):993-1000.

PMID:
12199344
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15.

Pas de deux or more: the sulfonylurea receptor and K+ channels.

Philipson LH, Steiner DF.

Science. 1995 Apr 21;268(5209):372-3. No abstract available.

PMID:
7716539
16.

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;59(6):485-91.

PMID:
10189991
17.

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.

18.

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. Epub 2002 Feb 26.

19.

Further evidence for a dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy: a family with documented hyperinsulinemia in two generations.

Hufnagel M, Eichmann D, Stieh J, Santer R.

J Clin Endocrinol Metab. 1998 Jun;83(6):2215-6. No abstract available.

PMID:
9626165
20.

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA.

Mod Pathol. 2006 Jan;19(1):122-9.

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