The GH receptor and GH insensitivity

Growth Hormone and IGF Research

Volumn 9, Issue SUPPL. B, 1999, Pages 42-46

  Ross, R J M ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

Dominant negative inhibition; Growth hormone; Growth hormone receptor; Mutation; Receptor signalling

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR;

ADENOHYPOPHYSIS; CONFERENCE PAPER; ENZYME PHOSPHORYLATION; GENE MUTATION; GROWTH HORMONE RELEASE; HORMONE RESISTANCE; HUMAN; LARON SYNDROME; PRIORITY JOURNAL; SHORT STATURE; SIGNAL TRANSDUCTION;

EID: 0032886405     PISSN: 10966374     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-6374(99)80080-X     Document Type: Conference Paper

References (11)

1. Woods K.A. Dastot F. Preece M.A. Clark A.J. Postel-Vinay M.C. Chatelain P.G. Ranke M.B. Rosenfeld R.G. Amselem S. Savage M.O. Phenotype: geneotype relationships in growth hormone insensitivity syndrome J Clin Endocrinol Metab 82 1997 3529 3535
2. Ross R.J.M. Chew S.L. Acquired growth hormone resistance Eur J Endocrinol 132 1995 655 660
3. Allevato G. Billestrup N. Goujon L. Galsgaard E.D. Norstedt G. Postel-Vinay M.C. Kelly P.A. Nielsen J.H. Identification of phenylanaline 346 in the rat growth hormone receptor as being critical for ligand-mediated internalization and down-regulation J Biol Chem 270 1995 17210 17214
4. Ayling R.M. Ross R. Towner P. Von Laue S. Finidori J. Moutoussamy S. Buchanan C.R. Clayton P.E. Norman M.R. A dominant negative mutation of the growth hormone receptor causes familial short stature Nature Genetics 16 1997 13 14
5. Iida K. Takahashi Y. Kaji H. Nose O. Okimura Y. Abe H. Chihara K. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain J Clin Endocrinol Metab 83 1998 531 537
6. Ross R.J.M. Clark A.J. Chew S.L. Cloning of two alternative splice variants in the transmembrane domain of the human growth hormone receptor 77th Annual Meeting of the Endocrine Society Washington 14–17 June 1995 P2 P202
7. Dastot F. Sobrier M. Duquesnoy P. Duriez B. Goossens M. Amselem S. Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein Proc Natl Acad Sci USA 93 1996 10723 10728
8. Ross R.J.M. Esposito N. Shen X.Y. Von Laue S. Chew S.L. Postel-Vinay M.-C. Finidori J. A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full length receptor and generates largeamounts of binding protein Mol Endocrinol 11 1997 265 273
9. Shen X.Y. Holt R.I.G. Miell J.P. Justice S. Portmann B. Postel-Vinay M.-C. Ross R.J.M. Cirrhotic liver expresses low levels of the full length and truncated growth hormone receptor J Clin Endocrinol Metab 83 1998 2532 2538
10. Amit T. Bergman T. Dastot F. Youdim M.B. Amselem S. Hochberg Z. A membrane-fixed, truncated isofonn of the human growth hormone receptor J Clin Endocrinol Metab 82 1998 3813 3817
11. Kaji H. Nose O. Tajiri H. Takahashi Y. Iida K. Takahashi T. Okimura Y. Abe H. Chihara K. Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome J Clin Endocrinol Metab 82 1997 3705 3709