Mutations of the GNAS1 Gene, Stromal Cell Dysfunction, and Osteomalacic Changes in Non–McCune–Albright Fibrous Dysplasia of Bone
Article first published online: 1 JAN 2000
Copyright © 2000 ASBMR
Journal of Bone and Mineral Research
Volume 15, Issue 1, pages 120–128, January 2000
How to Cite
Bianco, P., Riminucci, M., Majolagbe, A., Kuznetsov, S. A., Collins, M. T., Mankani, M. H., Corsi, A., Bone, H. G., Wientroub, S., Spiegel, A. M., Fisher, L. W. and Gehron ROBEY, P. (2000), Mutations of the GNAS1 Gene, Stromal Cell Dysfunction, and Osteomalacic Changes in Non–McCune–Albright Fibrous Dysplasia of Bone. J Bone Miner Res, 15: 120–128. doi: 10.1359/jbmr.2000.15.1.120
- Issue published online: 2 DEC 2009
- Article first published online: 1 JAN 2000
- Manuscript Accepted: 21 JUL 1999
- Manuscript Revised: 9 JUL 1999
- Manuscript Received: 13 APR 1999
- 11991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688–1695., , , , ,
- 21992 Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 89:5152–5156., ,
- 31994 An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab 79:750–755., , ,
- 41996 Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine (Baltimore) 75:171–184., ,
- 51996 Defects in G protein-coupled signal transduction in human disease. Annu Rev Physiol 58:143–170.
- 61997 Inborn errors of signal transduction: Mutations in G proteins and G protein-coupled receptors as a cause of disease. J Inherit Metab Dis 20:113–121.
- 71997 The molecular basis of disorders caused by defects in G proteins. Horm Res 47:89–96.
- 81995 G protein mutations in tumours of the pituitary, parathyroid, and endocrine pancreas. Biochem Biophys Res Commun 211:1063–1070., , ,
- 91994 Activating mutation in the stimulatory guanine nucleotide-binding protein in an infant with Cushing's syndrome and nodular adrenal hyperplasia. J Clin Endocrinol Metab 79:890–893., , ,
- 101996 Molecular aspects of the pathogenesis of nodular goiters, thyroid nodules and adenomas. Exp Clin Endocrinol Diabetes 104 Suppl 4:32–35.
- 111995 Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene. J Cancer Res Clin Oncol 121:219–224., , , , ,
- 121990 Two G protein oncogenes in human endocrine tumors. Science 249:655–659., , , , , , , , , , .
- 131991 Bone Tumors: Diagnosis, Treatment and Prognosis. Saunders, New York, NY, U.S.A
- 141996 Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res 14:311–315., ,
- 151997 Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia. Am J Pathol 150:1059–1069., , ,
- 161942 Fibrous dysplasia of bone: A condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism, and still other extraskeletal abnormalities. Arch Pathol 33:777–797.,
- 171958 Tumors and tumorous conditions of the bones and joints. Lea & Febiger, Philadelphia, PA, U.S.A
- 181998 Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gs-alpha mutated skeletal progenitor cells. J Clin Invest 101:1737–1744., , , , ,
- 191999 The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: site-specific patterns and recurrent histological hallmarks. J Pathol 187:249–258., , , , , ,
- 201997 Single-colony derived strains of human marrow stromal fibroblasts form bone after transplantation in vivo. J Bone Miner Res 12:1335–1347., , , , , ,
- 211997 Bone formation in vivo: Comparison of osteogenesis by transplanted mouse and human marrow stromal fibroblasts. Transplantation 63:1059–1069., , , , ,
- 221997 Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. Am J Pathol 151:1587–1600., , , , ,
- 231986 Scanning electron microscopy in bone pathology: Review of methods, potential, and applications. Scan Electron Microsc Pt 4:1537–1554., , , ,
- 241996 Mutations in G proteins and G protein-coupled receptors in endocrine disease. J Clin Endocrinol Metab 81:2434–2442.
- 251986 The McCune-Albright syndrome: A lethal gene surviving by mosaicism. Clin Genetics 29:321–324.
- 261996 Cutaneous fibrous dysplasia: an incomplete form of the McCune-Albright syndrome. Dermatology 192:258–261., , , ,
- 271994 Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Lancet 343:953–954., ,
- 281997 Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. J Bone Miner Res 12:1746–1752., , ,
- 291997 Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone 21:201–206., ,
- 301994 Oncogenic osteomalacia: A clinicopathologic study of 17 bone lesions. J Korean Med Sci 9:289–298., , ,
- 311976 Hypophosphataemic osteomalacia in fibrous dysplasia. Q J Med 45:411–420.,
- 321968 Fibrous dysplasia of bone with vitamin D resistant rickets: a case study. Metabolism 17:988–998., , ,
- 331997 Phosphatonin—a new phosphaturetic hormone? (Lessons from tumour-induced osteomalacia and X-linked hypophosphataemia) (Editorial). Nephrol Dial Transplant 12:11–13.
- 341995 Urinary cyclic adenosine 3′,5′-monophosphate response in McCune-Albright syndrome: Clinical evidence for altered renal adenylate cyclase activity. J Clin Endocrinol Metab 80:3576–3581., , , , , , ,