Loss-of-Function Mutations in the Thyrotropin Receptor Gene as a Major Determinant of Hyperthyrotropinemia in a Consanguineous Community-Reference-Cited by-同舟云学术

Loss-of-Function Mutations in the Thyrotropin Receptor Gene as a Major Determinant of Hyperthyrotropinemia in a Consanguineous Community

Published:2009-05-01 Issue:5 Volume:94 Page:1706-1712
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Tenenbaum-Rakover Yardena¹,Grasberger Helmut²,Mamanasiri Sunee²,Ringkananont Usanee²,Montanelli Lucia³,Barkoff Marla S.²,Dahood Ahmad Mahameed-Hag⁴,Refetoff Samuel²⁵

Affiliation:

1. Pediatric Endocrine Unit (Y.T.-R.), Ha'Emek Medical Center, and Technion Faculty of Medicine, 31096 Haifa, Israel

2. Departments of Medicine (H.G., S.M., U.R., M.S.B., S.R.), The University of Chicago, Chicago, Illinois 60637

3. Institute of Interdisciplinary Research (L.M.), Free University of Brussels, 1070 Brussels, Belgium

4. Clalit Health Service (A.M.-H.D.), 30010 Um-El Fahem, Israel

5. Pediatrics and Committee on Genetics (S.R.), The University of Chicago, Chicago, Illinois 60637

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/94/5/1706/9065169/jcem1706.pdf

Reference24 articles.

1. Resistance to thyrotropin.;Refetoff;J Endocrinol Invest,2003

2. Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.;Beck-Peccoz;Best Pract Res Clin Endocrinol Metab,2006

3. Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.;Sunthornthepvarakul;N Engl J Med,1995

4. GRIS: glycoprotein-hormone receptor information system.;Van Durme;Mol Endocrinol,2006

5. Four families with loss of function mutations of the thyrotropin receptor.;de Roux;J Clin Endocrinol Metab,1996

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