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Volumn 28, Issue 5, 1999, Pages 366-371

Etiology of fibrous dysplasia and McCune-Albright syndrome

Author keywords

Fibrous dysplasia; G protein; GNAS1 gene; Mccune Albright syndrome; Neoplasia; Pituitary adenoma; Somatic mosaicism

Indexed keywords


EID: 0033212348     PISSN: 09015027     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0901-5027(99)80085-x     Document Type: Article
Times cited : (113)

References (39)
  • 1
    • 0030111093 scopus 로고    scopus 로고
    • Activating mutations of Gs protein in monostotic fibrous lesions of bone
    • ALMAN BA, GREEL DA, et al. Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res 1996: 14 (2): 311-5.
    • (1996) J Orthop Res , vol.14 , Issue.2 , pp. 311-315
    • Alman, B.A.1    Greel, D.A.2
  • 3
    • 0030779964 scopus 로고    scopus 로고
    • 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
    • CANDELIERE GA, ROUGHLEY PJ, GLORIEUX FH. 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 1997: 21: 201-6.
    • (1997) Bone , vol.21 , pp. 201-206
    • Candeliere, G.A.1    Roughley, P.J.2    Glorieux, F.H.3
  • 4
    • 0029006890 scopus 로고
    • Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia
    • CANDELIERE GA, GLORIEUX FH, PRUD'-HOMME J, et al. Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med 1995: 332: 1546-51.
    • (1995) N Engl J Med , vol.332 , pp. 1546-1551
    • Candeliere, G.A.1    Glorieux, F.H.2    Prud'-Homme, J.3
  • 5
    • 0027495684 scopus 로고
    • New roles for G-protein βγ-dimers in transmembrane signalling
    • CLAPHAM DE, NEER EJ. New roles for G-protein βγ-dimers in transmembrane signalling. Nature 1993: 365: 403-6.
    • (1993) Nature , vol.365 , pp. 403-406
    • Clapham, D.E.1    Neer, E.J.2
  • 6
    • 0033137316 scopus 로고    scopus 로고
    • Nevoid basal cell carcinoma syndrome: Molecular biology and new hypotheses
    • COHEN MM JR. Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg 1999: 28: 216-23.
    • (1999) Int J Oral Maxillofac Surg , vol.28 , pp. 216-223
    • Cohen M.M., Jr.1
  • 8
    • 0009426827 scopus 로고    scopus 로고
    • Mutations affecting bone-forming cells
    • HALL BK, ed.
    • COLE DEC, COHEN MM JR. Mutations affecting bone-forming cells. In: HALL BK, ed.: Bone. Volume I. The osteoblast and osteocyte. Caldwell, NJ: Telford Press, 1990: 431-87.
    • Bone , vol.1
    • Cole, D.E.C.1    Cohen M.M., Jr.2
  • 9
    • 0009403521 scopus 로고
    • Caldwell, NJ: Telford Press
    • COLE DEC, COHEN MM JR. Mutations affecting bone-forming cells. In: HALL BK, ed.: Bone. Volume I. The osteoblast and osteocyte. Caldwell, NJ: Telford Press, 1990: 431-87.
    • (1990) The Osteoblast and Osteocyte , pp. 431-487
  • 10
    • 0030209618 scopus 로고    scopus 로고
    • GS protein mutations and pituitary tumors: Functional correlates and possible therapeutic implications
    • FAGLIA G, AROSIO M, SPADA A. GS protein mutations and pituitary tumors: Functional correlates and possible therapeutic implications. Metabolism 1996: 45 (8 Suppl 1): 117-9.
    • (1996) Metabolism , vol.45 , Issue.8 SUPPL. 1 , pp. 117-119
    • Faglia, G.1    Arosio, M.2    Spada, A.3
  • 11
    • 0022654257 scopus 로고
    • The McCune-Albright syndrome: A lethal gene surviving by mosaicism
    • HAPPLE R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet 1986: 29: 321-4.
    • (1986) Clin Genet , vol.29 , pp. 321-324
    • Happle, R.1
  • 12
    • 0030209740 scopus 로고    scopus 로고
    • Gs protein mutations and the pathogenesis and function of pituitary tumors
    • HARRIS PE. Gs protein mutations and the pathogenesis and function of pituitary tumors. Metabolism 1996: 45 (8 Suppl 1): 120-2.
    • (1996) Metabolism , vol.45 , Issue.8 SUPPL. 1 , pp. 120-122
    • Harris, P.E.1
  • 13
    • 0032433682 scopus 로고    scopus 로고
    • Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
    • HAYWARD BE, MORAN V, STRAIN L, et al. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A 1998 95: 15475-80.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 15475-15480
    • Hayward, B.E.1    Moran, V.2    Strain, L.3
  • 14
    • 13144250154 scopus 로고    scopus 로고
    • The gene responsible for pseudohypoparathyroidism type ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
    • JUPPNER H, SCHIPANI E, BASTEPE M, et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A 1998: 95: 11798-803.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 11798-11803
    • Juppner, H.1    Schipani, E.2    Bastepe, M.3
  • 15
    • 0024404145 scopus 로고
    • GTPase inhibiting mutations activate the alpha chain of G(s) and stimulate adenylyl cyclase in human pituitary tumours
    • LANDIS CA, MASTERS SB, SPADA A, et al. GTPase inhibiting mutations activate the alpha chain of G(s) and stimulate adenylyl cyclase in human pituitary tumours. Nature 1989: 340: 692-6.
    • (1989) Nature , vol.340 , pp. 692-696
    • Landis, C.A.1    Masters, S.B.2    Spada, A.3
  • 16
    • 0026077914 scopus 로고
    • Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization
    • LEVINE MA, MODI WS, O'BRIEN SJ. Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization. Genomics 1991: 11: 478-9.
    • (1991) Genomics , vol.11 , pp. 478-479
    • Levine, M.A.1    Modi, W.S.2    O'Brien, S.J.3
  • 17
    • 0028323562 scopus 로고
    • An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the G(s) alpha-subunit from a bone lesion
    • MALCHOFF CD, REARDON G, MACGILLIVRARY DC, et al. An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the G(s) alpha-subunit from a bone lesion. J Clin Endocrinol Metab 1994: 78: 803-6.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 803-806
    • Malchoff, C.D.1    Reardon, G.2    Macgillivrary, D.C.3
  • 18
    • 0031043824 scopus 로고    scopus 로고
    • Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia
    • MARIE PJ, DE POLLAK C, CHANSON P, et al. Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia. Am J Pathol 1997: 150: 1059-69.
    • (1997) Am J Pathol , vol.150 , pp. 1059-1069
    • Marie, P.J.1    De Pollak, C.2    Chanson, P.3
  • 20
    • 0030660319 scopus 로고    scopus 로고
    • Fibrous dysplasia of bone in the McCune-Albright syndrome: Abnormalities in bone formation
    • RIMINUCCI M, FISHER LW, SHENKER A, et al. Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. Am J Pathol 1997: 151: 1587-600.
    • (1997) Am J Pathol , vol.151 , pp. 1587-1600
    • Riminucci, M.1    Fisher, L.W.2    Shenker, A.3
  • 21
    • 0032902792 scopus 로고    scopus 로고
    • sα gene: Site-specific patterns and recurrent histological hallmarks
    • sα gene: site-specific patterns and recurrent histological hallmarks. J Pathol 1999: 187: 249-58.
    • (1999) J Pathol , vol.187 , pp. 249-258
    • Riminucci, M.1    Liu, B.2    Corsi, A.3
  • 22
    • 0023091227 scopus 로고
    • Deregulated c-fos expression interferes with normal bone development in transgenic mice
    • RUTHER U, GARBER C, KOMITOWSKI D, et al. Deregulated c-fos expression interferes with normal bone development in transgenic mice. Nature 1987: 325: 412-6.
    • (1987) Nature , vol.325 , pp. 412-416
    • Ruther, U.1    Garber, C.2    Komitowski, D.3
  • 23
    • 0024359778 scopus 로고
    • C-fos expression induces bone tumors in transgenic mice
    • RUTHER U, KOMITOWSKI D, SCHUBERT FR, et al. C-fos expression induces bone tumors in transgenic mice. Oncogene 1989: 4: 861-5.
    • (1989) Oncogene , vol.4 , pp. 861-865
    • Ruther, U.1    Komitowski, D.2    Schubert, F.R.3
  • 24
    • 0032569851 scopus 로고    scopus 로고
    • 90 as a capacitor for morphological evolution
    • 90 as a capacitor for morphological evolution. Nature 1998: 396: 336-42.
    • (1998) Nature , vol.396 , pp. 336-342
    • Rutherford, S.L.1    Lindquist, S.2
  • 25
    • 0002571715 scopus 로고
    • The malignant transformation of fibrous dysplasia
    • SCHWARTZ DT, ALPERT M. The malignant transformation of fibrous dysplasia. Am J Med Sci 1964: 247: 1.
    • (1964) Am J Med Sci , vol.247 , pp. 1
    • Schwartz, D.T.1    Alpert, M.2
  • 26
    • 0026694168 scopus 로고
    • Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome
    • SCHWINDINGER WF, FRANCOMANO CA, LEVINE MA. 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 U S A 1992: 89: 5152-6.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 5152-5156
    • Schwindinger, W.F.1    Francomano, C.A.2    Levine, M.A.3
  • 28
    • 0029091772 scopus 로고
    • Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the G(S)-alpha gene
    • SHENKER A, CHANSON P, WEINSTEIN LS, et al. Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the G(S)-alpha gene. Hum Mol Genet 1995: 4: 1675-6.
    • (1995) Hum Mol Genet , vol.4 , pp. 1675-1676
    • Shenker, A.1    Chanson, P.2    Weinstein, L.S.3
  • 29
    • 0028169341 scopus 로고
    • An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome
    • SHENKER A, WEINSTEIN LS, SWEET DE, et al. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab 1994: 79: 750-5.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 750-755
    • Shenker, A.1    Weinstein, L.S.2    Sweet, D.E.3
  • 30
    • 0027482950 scopus 로고
    • Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein Gs
    • SHENKER A, WEINSTEIN LS, MORAN A, et al. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein Gs. J Pediatr 1993: 123: 509-18.
    • (1993) J Pediatr , vol.123 , pp. 509-518
    • Shenker, A.1    Weinstein, L.S.2    Moran, A.3
  • 31
    • 0002266677 scopus 로고    scopus 로고
    • Activating mutations in G protein-coupled signaling pathways as a cause of endocrine disease
    • SHENKER A. Activating mutations in G protein-coupled signaling pathways as a cause of endocrine disease. Growth Genet Horm 1996: 12: 33-7.
    • (1996) Growth Genet Horm , vol.12 , pp. 33-37
    • Shenker, A.1
  • 32
    • 0031044662 scopus 로고    scopus 로고
    • The molecular basis of disorders caused by defects in G proteins
    • SPIEGEL AM. The molecular basis of disorders caused by defects in G proteins. Horm Res 1997: 47: 89-96.
    • (1997) Horm Res , vol.47 , pp. 89-96
    • Spiegel, A.M.1
  • 33
    • 0000070633 scopus 로고
    • Sarcoma complicating fibrous dysplasia. Probable role of radiation therapy
    • TANNER HC JR, DAHLIN DC, CHILDS DS JR. Sarcoma complicating fibrous dysplasia. Probable role of radiation therapy. Oral Surg 1961: 14: 837.
    • (1961) Oral Surg , vol.14 , pp. 837
    • Tanner H.C., Jr.1    Dahlin, D.C.2    Childs D.S., Jr.3
  • 34
    • 0015589957 scopus 로고
    • Benign flbro-osseous lesions of the jaws: A clinical-radiologic-histologic review of sixty-five cases
    • WALDRON CA, GIANSANTI JS. Benign flbro-osseous lesions of the jaws: a clinical-radiologic-histologic review of sixty-five cases. Oral Surg 1973: 35: 340-50.
    • (1973) Oral Surg , vol.35 , pp. 340-350
    • Waldron, C.A.1    Giansanti, J.S.2
  • 35
    • 0026003074 scopus 로고
    • Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
    • WEINSTEIN LS, SHENKER A, GEJMAN PV, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991: 325: 1688-95.
    • (1991) N Engl J Med , vol.325 , pp. 1688-1695
    • Weinstein, L.S.1    Shenker, A.2    Gejman, P.V.3
  • 36
    • 0028909901 scopus 로고
    • G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas
    • WILLIAMSON EA, INCE PG, HARRISON D, et al. G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. Eur J Clin Invest 1995: 25: 128-31.
    • (1995) Eur J Clin Invest , vol.25 , pp. 128-131
    • Williamson, E.A.1    Ince, P.G.2    Harrison, D.3
  • 37
    • 0025291448 scopus 로고
    • The proto-oncogene c-fos is overexpressed in the majority of human osteosarcomas
    • WU J-X, CARPENTER PM, GRESENS C, et al. The proto-oncogene c-fos is overexpressed in the majority of human osteosarcomas. Oncogene 1990: 5: 989-1000.
    • (1990) Oncogene , vol.5 , pp. 989-1000
    • Wu, J.-X.1    Carpenter, P.M.2    Gresens, C.3
  • 38
    • 0023935971 scopus 로고
    • Malignant transformation of fibrous dysplasia: A case report and review of the literature
    • YABUT SM JR, KENAN S, SISSONS HA, et al. Malignant transformation of fibrous dysplasia: a case report and review of the literature. Clin Orthop 1988: 228: 281-8.
    • (1988) Clin Orthop , vol.228 , pp. 281-288
    • Yabut S.M., Jr.1    Kenan, S.2    Sissons, H.A.3


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