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Items: 1 to 20 of 215

1.

Genotype-phenotype correlation in inherited severe insulin resistance.

Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D.

Hum Mol Genet. 2002 Jun 1;11(12):1465-75.

2.

An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.

Müller-Wieland D, van der Vorm ER, Streicher R, Krone W, Seemanova E, Dreyer M, Rüdiger HW, Rosipal SR, Maassen JA.

Diabetologia. 1993 Nov;36(11):1168-74.

PMID:
8270132
3.

Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles.

Kusari J, Takata Y, Hatada E, Freidenberg G, Kolterman O, Olefsky JM.

J Biol Chem. 1991 Mar 15;266(8):5260-7.

4.

Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.

Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P.

Medicine (Baltimore). 2004 Jul;83(4):209-22. Review.

5.

Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

Krook A, Kumar S, Laing I, Boulton AJ, Wass JA, O'Rahilly S.

Diabetes. 1994 Mar;43(3):357-68.

PMID:
8314008
7.

Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.

Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Féry F, van der Zon GC.

J Clin Endocrinol Metab. 2003 Sep;88(9):4251-7.

PMID:
12970295
8.

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

Kadowaki T, Kadowaki H, Rechler MM, Serrano-Rios M, Roth J, Gorden P, Taylor SI.

J Clin Invest. 1990 Jul;86(1):254-64.

9.

A nonsense mutation in the Arg345 of the insulin receptor gene in a Japanese type A insulin-resistant patient.

Hashiramoto M, Osawa H, Ando M, Murakami A, Nishimiya T, Nakano M, Nishida W, Onuma H, Makino H.

Endocr J. 2005 Aug;52(4):499-504.

10.

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.

Tuthill A, Semple RK, Day R, Soos MA, Sweeney E, Seymour PJ, Didi M, O'rahilly S.

Clin Endocrinol (Oxf). 2007 Jan;66(1):21-6.

PMID:
17201797
11.

Gene expression in human cells with mutant insulin receptors.

Melis R, Pruett PB, Wang Y, Longo N.

Biochem Biophys Res Commun. 2003 Aug 8;307(4):1013-20.

PMID:
12878213
12.

Activation of glucose transport by a natural mutation in the human insulin receptor.

Longo N, Langley SD, Griffin LD, Elsas LJ.

Proc Natl Acad Sci U S A. 1993 Jan 1;90(1):60-4.

13.

Molecular defects in the insulin receptor in patients with leprechaunism and in their parents.

Reddy SS, Muller-Wieland D, Kriauciunas K, Kahn CR.

J Lab Clin Med. 1989 Aug;114(2):165-70.

PMID:
2569023
14.

A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism.

Takahashi Y, Kadowaki H, Momomura K, Fukushima Y, Orban T, Okai T, Taketani Y, Akanuma Y, Yazaki Y, Kadowaki T.

Diabetologia. 1997 Apr;40(4):412-20.

PMID:
9112018
16.

Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients.

Osawa H, Nishimiya T, Ochi M, Niiya T, Onuma H, Kitamuro F, Kaino Y, Kida K, Makino H.

Clin Genet. 2001 Mar;59(3):194-7.

PMID:
11260230
17.

Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations.

Jiang S, Fang Q, Zhang F, Wan H, Zhang R, Wang C, Bao Y, Zhang L, Ma X, Lu J, Gao F, Xiang K, Jia W.

Endocr J. 2011;58(11):931-40.

18.
19.

A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding.

van der Vorm ER, Kuipers A, Kielkopf-Renner S, Krans HM, Möller W, Maassen JA.

J Biol Chem. 1994 May 13;269(19):14297-302.

20.

Mutations in insulin-receptor gene in insulin-resistant patients.

Taylor SI, Kadowaki T, Kadowaki H, Accili D, Cama A, McKeon C.

Diabetes Care. 1990 Mar;13(3):257-79. Review.

PMID:
1968373
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