A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

Nature - Tập 365 Số 6447 - Trang 652-654 - 1993
Andrew Shenker1, Louisa Laue2, Shinji Kosugi3,4, John J. Merendino5, Takashi Minegishi6, Gordon B. Cutler2
1Molecular Pathophysiology Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892.
2Developmental Endocrinology Branch, NICHD, Laboratory of Biochemistry and Metabolism, NIDDK, National Institutes of Health, Bethesda, USA
3Cell Regulation Section, Laboratory of Biochemistry and Metabolism, NIDDK, National Institutes of Health, Bethesda, USA
4Department of Laboratory Medicine, Kyoto University School of Medicine, Kyoto, Japan
5Molecular Pathophysiology Branch, Building 10, Room 8C-101, NIDDK,
6Department of Obstetrics and Gynecology, Gunma University School of Medicine, Maebashi, Gunma, Japan

Tóm tắt

Từ khóa


Tài liệu tham khảo

Stone, R. K. Am. J. med. Sci. 24, 561–564 (1852).

Walker, S. H. J. Pediat. 41, 251–257 (1952).

Schedewie, H. K. et al. J. clin. Endocr. Metab. 57, 271–278 (1981).

Rosenthal, S. M., Grumbach, M. M. & Kaplan, S. L. J. clin. Endocr. Metab. 57, 571–578 (1983).

Holland, F. J. Endocr. Metab. Clin. North Am. 20, 191–210 (1991).

Minegishi, T. et al. Biochem. biophys. Res. Commun. 172, 1049–1054 (1990).

Jia, X-C. et al. Molec. Endocr. 5, 759–768 (1991).

Allen, L. F., Lefkowitz, R. J., Caron, M. G. & Cotecchia, S. Proc. natn. Acad. Sci. U.S.A. 88, 11354–11358 (1991).

Kjelsberg, M. A., Cotecchia, S., Ostrowski, J., Caron, M. G. & Lefkowitz, R. J. J. biol. Chem. 267, 1430–1433 (1992).

Samama, P., Cotecchia, S., Costa, T. & Lefkowitz, R. J. J. biol. Chem 268, 4625–4636 (1993).

Ren, Q., Kurose, H., Lefkowitz, R. J. & Cotecchia, S. J. biol. Chem 268, 16483–16487 (1993).

Kosugi, S., Okajima, F., Ban, T., Hidaka, A., Shenker, A. & Kohn, L. D. Molec Endocr. 7, 1009–1020 (1993).

Riesner, D. et al. Electrophoresis 10, 377–389 (1989).

Hunzicker-Dunn, M. & Birnbaumer, L. in Luteinizing Hormone Action and Receptors (ed Ascoli, M.) 57–134 (CRC, Boca Raton, 1985).

Oerter, K. E., Uriarte, M., Rose, S. R., Barnes, K. M. & Cutler, G. B. Jr J. clin. Endocr. Metab. 71, 1251–1258 (1990).

Sklar, C. A., Conte, F. A., Kaplan, S. L. & Grumbach, M. M. J. clin. Endocr. Metab. 53, 656–660 (1981).

Baldwin, J. M. EMBO J. 12, 1693–1703 (1993).

Trumpp-Kallmeyer, S., Hoflack, J., Bruinvels, A. & Hibert, M. J. Med. Chem. 35, 3448–3462 (1992).

Neitz, M., Neitz, J. & Jacobs, G. J. Science 252, 971–974 (1991).

Tsai-Morris, C. H., Buczko, E., Wang, W. & Dufau, M. L. J. biol. Chem. 265, 19385–19388 (1990).

Bargmann, C. I., Hung, M-C. & Weinberg, R. A. Cell 45, 649–657 (1986).

Yaghmai, R. & Hazelbauer, G. L. Proc. natn. Acad. Sci. U.S.A. 89, 7890–7894 (1992).

Dryja, T. P. et al. New Engl. J. Med. 323, 1302–1307 (1990).

Rosenthal, W. et al. Nature 359, 233–235 (1992).

Robbins, L. S. et al. Cell 72, 827–834 (1993).

Robinson, P. R., Cohen, G. B., Zhukovsky, E. A. & Oprian, D. D. Neuron 9, 719–725 (1992).

Dryja, T. P., Berson, E. L., Rao, V. R. & Oprian, D. D. Nature Genet. 4, 280–283 (1993).

Myers, R. M., Sheffield, V. C. & Cox, D. R. in PCR Technology: Principles and Applications for DNA Amplification (ed. Erlich, H. A.) 71–88 (Stockton, New York, 1989).

Laue, L., Jones, J., Barnes, K. M. & Cutler, G. B. Jr J. clin. Endocr. Metab 76, 151–155 (1993).

Laue, L. O. H. et al. New Engl. J. Med. 320, 496–502 (1989).