A dominant-negative mutation of the growth hormone receptor causes familial short stature

Nature Genetics

Volumn 16, Issue 1, 1997, Pages 13-14

  Ay Ling, Ruth M ^a   Ross, Richard ^b   Towner, Paul ^c   Von Laue, Sigward ^b   Finidori, Joëlle ^d   Moutoussamy, Soraya ^d   Buchanan, Charles R ^e   Clayton, Peter E ^f   Norman, Michael R ^g  

^a Departments of Clinical Biochemistry   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c Molecular Medicine   (United Kingdom)

^d INSERM   (France)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g UNIVERSITY OF BRISTOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; GROWTH HORMONE RECEPTOR; HUMAN GROWTH HORMONE; SOMATOTROPIN BINDING PROTEIN; SOMATOTROPIN-BINDING PROTEIN;

BINDING SITE; BLOOD; BODY HEIGHT; CYTOPLASM; DOMINANT GENE; DRUG EFFECT; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; LETTER; MALE; METABOLISM; MUTATION; PRESCHOOL CHILD;

BINDING SITES; BODY HEIGHT; CARRIER PROTEINS; CHILD, PRESCHOOL; CYTOPLASM; FEMALE; GENES, DOMINANT; HETEROZYGOTE; HUMAN GROWTH HORMONE; HUMANS; MALE; MUTATION; RECEPTORS, SOMATOTROPIN;

EID: 0031133077     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0597-13     Document Type: Article

References (15)

1. Rosenfeld, R.G., Rosenbloom, A.L & Guevara-Aguirre. J. Endocrine Rev. 15, 369-390 (1994).
2. Goddard, A.D. et al. N. Engl. J. Med. 333, 1093-1098 (1995).
3. Godowski, P.J. et al. Proc. Natl. Acad. Sci. USA 86, 8083-8087 (1989).
4. Leung, D. et al. Nature 330, 537-543 (1987).
5. Finidori, J. & Kelly, P.A. J. Endocrinol. 147, 11-23 (1995).
6. Dinerstein, H. et al. Mol. Endocrinol. 9, 1701-1707 (1995).
7. Ross, R. et al. Mol. Endocrinol. 11, 265-273 (1977).
8. Barber, D.L., DeMartino, J.C., Showers, M.O. & D'Andrea, A.D. Mol. Cell. Biol. 14, 2257-2265 (1994).
9. Cunningham, B.C. et al. Science 254, 821-825 (1991).
10. Allevato, G. et al. J. Biol. Chem. 270, 17210-17214 (1995).
11. Strous, G.J. et al. EMBO J. 15, 3806-3812 (1996).
12. Dastot, F. et al. Proc. Natl. Acad. Sci. USA 93, 10723-10728(1996)
13. Berg, M.A., Guevara-Aguirre, J. & Rosenbloom, A.L. Hum. Mut. 1, 24-34 (1992).
14. Sotiropoulos, A. et al. Endocrinol. 132, 1863-1865 (1993).
15. Sotiropoulos, A. et al. Mol. Endocrinol. 10, 998-1009 (1996).