Functional characterization of insulin receptor gene mutations contributing to Rabson-Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations-Reference-Cited by-同舟云学术

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

Published:2011 Issue:11 Volume:58 Page:931-940
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Jiang Shan¹,Fang Qichen¹,Zhang Feng¹,Wan Hui¹,Zhang Rong¹,Wang Congrong¹,Bao Yuqian¹,Zhang Lei¹,Ma Xiaojing¹,Lu Junxi¹,Gao Fei¹,Xiang Kunsan¹,Jia Weiping¹

Affiliation:

1. Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai Clinical Center of Diabetes, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Diabetes Institute, Shanghai, 200233, China

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://www.jstage.jst.go.jp/article/endocrj/58/11/58_EJ11-0032/_pdf

Reference23 articles.

1. Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome

2. Lilly Lecture: molecular mechanisms of insulin resistance. Lessons from patients with mutations in the insulin-receptor gene

3. 3. Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D (2002) Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet 11: 1465-1475.

4. 4. Tuthill A, Semple RK, Day R, Soos MA, Sweeney E, Seymour PJ, Didi M, O’ rahilly S (2007) Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. Clin Endocrinol (Oxf) 66: 21-26.

5. 5. Hardaway CA, Gibbs NF (2002) What syndrome is this? Rabson-Mendenhall syndrome. Pediatr Dermatol 19: 267-270.

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