-
1
-
-
0026694168
-
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 USA. 1992;89(11):5152-6.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, Issue.11
, pp. 5152-5156
-
-
Schwindinger, W.F.1
Francomano, C.A.2
Levine, M.A.3
-
2
-
-
0028169341
-
An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome
-
Shenker A, Weinstein LS, Sweet DE, Spiegel AM. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab. 1994;79(3):750-5.
-
(1994)
J Clin Endocrinol Metab
, vol.79
, Issue.3
, pp. 750-755
-
-
Shenker, A.1
Weinstein, L.S.2
Sweet, D.E.3
Spiegel, A.M.4
-
3
-
-
0026003074
-
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
-
Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991;325(24):1688-95.
-
(1991)
N Engl J Med.
, vol.325
, Issue.24
, pp. 1688-1695
-
-
Weinstein, L.S.1
Shenker, A.2
Gejman, P.V.3
Merino, M.J.4
Friedman, E.5
Spiegel, A.M.6
-
4
-
-
84882900197
-
Fibrous Dysplasia
-
Glorieux FH, Pettifor JM, Juppner H, editors, New York: Elsevier
-
Bianco P, Wientroub S. Fibrous Dysplasia. In: Glorieux FH, Pettifor JM, Juppner H, editors. Pediatric bone: biology and disease, 2nd ed. New York: Elsevier; 2012. p.589-624
-
(2012)
Pediatric Bone: Biology and Disease 2nd Ed
, pp. 589-624
-
-
Bianco, P.1
Wientroub, S.2
-
6
-
-
0024839696
-
Hydrolysis of GTP by the alpha chain of Gs and other GTP binding proteins
-
Bourne HR, Landis CA, Masters SB. Hydrolysis of GTP by the alpha chain of Gs and other GTP binding proteins. Proteins. 1989;6(3):222-30.
-
(1989)
Proteins
, vol.6
, Issue.3
, pp. 222-230
-
-
Bourne, H.R.1
Landis, C.A.2
Masters, S.B.3
-
7
-
-
8944222565
-
Increased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome
-
Yamamoto T, Ozono K, Kasayama S, et al. Increased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome. J Clin Invest. 1996;98(1):30-5.
-
(1996)
J Clin Invest
, vol.98
, Issue.1
, pp. 30-35
-
-
Yamamoto, T.1
Ozono, K.2
Kasayama, S.3
-
8
-
-
0031044662
-
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(3):89-96.
-
(1997)
Horm Res
, vol.47
, pp. 89-96
-
-
Spiegel, A.M.1
-
9
-
-
0027482950
-
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(4):509-18.
-
(1993)
J Pediatr
, vol.123
, Issue.4
, pp. 509-518
-
-
Shenker, A.1
Weinstein, L.S.2
Moran, A.3
-
10
-
-
0030660319
-
Fibrous dysplasia of bone in the McCune-Albright syndrome: Abnormalities in bone formation
-
Riminucci M., Fisher LW,Shenker A, Spiegel AM, Bianco P,Gehron Robey P. 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
Spiegel, A.M.4
Bianco, P.5
Gehronn Robey, P.6
-
11
-
-
0032902792
-
The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: Site-specific patterns and recurrent histological hallmarks
-
Riminucci M, Liu B, Corsi A, et al. 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. 1999;187:249-58.
-
(1999)
J Pathol
, vol.187
, pp. 249-258
-
-
Riminucci, M.1
Liu, B.2
Corsi, A.3
-
12
-
-
0142027640
-
Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: Core biopsy studies and clinical correlations
-
Corsi A, Collins MT, Riminucci M, et al. Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations. J Bone Miner Res. 2003;18(7):1235-46.
-
(2003)
J Bone Miner Res
, vol.18
, Issue.7
, pp. 1235-1246
-
-
Corsi, A.1
Collins, M.T.2
Riminucci, M.3
-
13
-
-
0033971782
-
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone
-
Bianco P, Riminucci M, Majolagbe A, et al. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res. 2000;15(1):120-8.
-
(2000)
J Bone Miner Res
, vol.15
, Issue.1
, pp. 120-128
-
-
Bianco, P.1
Riminucci, M.2
Majolagbe, A.3
-
15
-
-
0037911376
-
Natural history and treatment of fibrous dysplasia of bone: A multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society
-
Ippolito E, Bray EW, Corsi A, et al. Natural history and treatment of fibrous dysplasia of bone: a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society. J Pediatr Orthop B. 2003;12(3):155-77.
-
(2003)
J Pediatr Orthop B.
, vol.12
, Issue.3
, pp. 155-177
-
-
Ippolito, E.1
Bray, E.W.2
Corsi, A.3
-
16
-
-
0032523095
-
Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gs-alpha mutated skeletal progenitor cells
-
Bianco P, Kuznetsov S, Riminucci M, Fisher LW, Spiegel AM, Gehron Robey P. 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. 1998;101:1737-44.
-
(1998)
J Clin Invest
, vol.101
, pp. 1737-1744
-
-
Bianco, P.1
Kuznetsov, S.2
Riminucci, M.3
Fisher, L.W.4
Spiegel, A.M.5
Gehron Robey, P.6
-
17
-
-
54249156389
-
Age-dependent demise of GNAS-mutated skeletal stem cells and -normalization- of fibrous dysplasia of bone
-
Kuznetsov SA, Cherman N, Riminucci M, Collins MT, Robey PG, Bianco P. Age-dependent demise of GNAS-mutated skeletal stem cells and -normalization- of fibrous dysplasia of bone. J Bone Miner Res. 2008;23(11):1731-40.
-
(2008)
J Bone Miner Res
, vol.23
, Issue.11
, pp. 1731-1740
-
-
Kuznetsov, S.A.1
Cherman, N.2
Riminucci, M.3
Collins, M.T.4
Robey, P.G.5
Bianco, P.6
-
18
-
-
0022654257
-
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
-
19
-
-
2442508854
-
A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome
-
Karadag A, Riminucci M, Bianco P, et al. A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome. Nucleic Acids Res. 2004;32(7):e63.
-
(2004)
Nucleic Acids Res
, vol.32
, Issue.7
, pp. e63
-
-
Karadag, A.1
Riminucci, M.2
Bianco, P.3
-
20
-
-
84866741881
-
Successive generations with inherited craniofacial fibrous dysplasia
-
Charoenlarp P, Cholitgul W, Sinpitaksakul P, Dhanuthai K, Sessirisombat S. Successive generations with inherited craniofacial fibrous dysplasia. Oral Radiol. 2011;28(2):121-8.
-
(2011)
Oral Radiol
, vol.28
, Issue.2
, pp. 121-128
-
-
Charoenlarp, P.1
Cholitgul, W.2
Sinpitaksakul, P.3
Dhanuthai, K.4
Sessirisombat, S.5
-
21
-
-
77953532926
-
Transfer, analysis, and reversion of the fibrous dysplasia cellular phenotype in human skeletal progenitors
-
Piersanti S, Remoli C, Saggio I, et al. Transfer, analysis, and reversion of the fibrous dysplasia cellular phenotype in human skeletal progenitors. J Bone Miner Res. 2010;25(5):1103-16.
-
(2010)
J Bone Miner Res
, vol.25
, Issue.5
, pp. 1103-1116
-
-
Piersanti, S.1
Remoli, C.2
Saggio, I.3
-
22
-
-
0042333447
-
Osteoclastogenesis in fibrous dysplasia of bone: In situ and in vitro analysis of IL-6 expression
-
Riminucci M, Kuznetsov SA, Cherman N, Corsi A, Bianco P, Gehron Robey P. Osteoclastogenesis in fibrous dysplasia of bone: in situ and in vitro analysis of IL-6 expression. Bone. 2003;33(3):434-42.
-
(2003)
Bone
, vol.33
, Issue.3
, pp. 434-442
-
-
Riminucci, M.1
Kuznetsov, S.A.2
Cherman, N.3
Corsi, A.4
Bianco, P.5
Gehron Robey, P.6
-
23
-
-
0035138914
-
Activated parathyroid hormone/parathyroid hormone-related protein receptor in osteoblastic cells differentially affects cortical and trabecular bone
-
Calvi LM, Sims NA, Hunzelman JL, et al. Activated parathyroid hormone/parathyroid hormone-related protein receptor in osteoblastic cells differentially affects cortical and trabecular bone. J Clin Invest. 2001;107(3):277-86.
-
(2001)
J Clin Invest
, vol.107
, Issue.3
, pp. 277-286
-
-
Calvi, L.M.1
Sims, N.A.2
Hunzelman, J.L.3
-
24
-
-
77953464765
-
Gs G protein-coupled receptor signaling in osteoblasts elicits age-dependent effects on bone formation.
-
Hsiao EC, Boudignon BM, Halloran BP, Nissenson RA, Conklin BR. Gs G protein-coupled receptor signaling in osteoblasts elicits age-dependent effects on bone formation. J Bone Miner Res. 2010;25(3):584-93.
-
(2010)
J Bone Miner Res
, vol.25
, Issue.3
, pp. 584-593
-
-
Hsiao, E.C.1
Boudignon, B.M.2
Halloran, B.P.3
Nissenson, R.A.4
Conklin, B.R.5
-
25
-
-
77249139302
-
Ligand-mediated activation of an engineered gs g protein-coupled receptor in osteoblasts increases trabecular bone formation
-
Hsiao EC, Millard SM, Louie A, Huang Y, Conklin BR, Nissenson RA. Ligand-mediated activation of an engineered gs g protein-coupled receptor in osteoblasts increases trabecular bone formation. Mol Endocrinol. 2010;24(3):621-31.
-
(2010)
Mol Endocrinol
, vol.24
, Issue.3
, pp. 621-631
-
-
Hsiao, E.C.1
Millard, S.M.2
Louie, A.3
Huang, Y.4
Conklin, B.R.5
Nissenson, R.A.6
-
26
-
-
77952692816
-
Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone
-
Tsang K, Starost M, Nesterova M, et al. Alternate protein kinase A activity identifies a unique population of stromal cells in adult bone. Proc Natl Acad Sci USA. 2010;107(19):8683-8.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.19
, pp. 8683-8688
-
-
Tsang, K.1
Starost, M.2
Nesterova, M.3
-
27
-
-
12944253120
-
McCune-Albright syndrome: A longitudinal clinical study of 32 patients
-
de Sanctis C, Lala R, Matarazzo P, et al. McCune-Albright syndrome: a longitudinal clinical study of 32 patients. J Pediatr Endocrinol Metab. 1999;12(6):817-26.
-
(1999)
J Pediatr Endocrinol Metab
, vol.12
, Issue.6
, pp. 817-826
-
-
De Sanctis, C.1
Lala, R.2
Matarazzo, P.3
-
28
-
-
36049044847
-
Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome
-
Hart ES, Kelly MH, Brillante B, et al. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Miner Res. 2007;22(9):1468-74.
-
(2007)
J Bone Miner Res
, vol.22
, Issue.9
, pp. 1468-1474
-
-
Hart, E.S.1
Kelly, M.H.2
Brillante, B.3
-
29
-
-
32944456921
-
Pamidronate treatment of polyostotic fibrous dysplasia: Failure to prevent expansion of dysplastic lesions during childhood
-
Chan B, Zacharin M. Pamidronate treatment of polyostotic fibrous dysplasia: failure to prevent expansion of dysplastic lesions during childhood. J Pediatr Endocrinol Metab. 2006;19(1):75-80.
-
(2006)
J Pediatr Endocrinol Metab
, vol.19
, Issue.1
, pp. 75-80
-
-
Chan, B.1
Zacharin, M.2
-
30
-
-
0242320444
-
Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone
-
Plotkin H, Rauch F, Zeitlin L, Munns C, Travers R, Glorieux F. Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. J Clin Endocrinol Metab. 2003;88(10):4569-75.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, Issue.10
, pp. 4569-4575
-
-
Plotkin, H.1
Rauch, F.2
Zeitlin, L.3
Munns, C.4
Travers, R.5
Glorieux, F.6
-
31
-
-
77957853504
-
Mesenchymal stem cells in human bone marrow (skeletal stem cells): A critical discussion of their nature, identity, and significance in incurable skeletal disease
-
Bianco P, Robey PG, Saggio I, Riminucci M. "Mesenchymal" stem cells in human bone marrow (skeletal stem cells): a critical discussion of their nature, identity, and significance in incurable skeletal disease. Hum Gene Ther. 2010;21(9):1057-66.
-
(2010)
Hum Gene Ther
, vol.21
, Issue.9
, pp. 1057-1066
-
-
Bianco, P.1
Robey, P.G.2
Saggio, I.3
Riminucci, M.4
-
32
-
-
78650443572
-
Skeletal progenitors and the GNAS gene: Fibrous dysplasia of bone read through stem cells
-
Riminucci M, Gehron Robey P, Saggio I, Bianco P. Skeletal progenitors and the GNAS gene: fibrous dysplasia of bone read through stem cells. J Mol Endocrinol. 2010;45(6):355-64.
-
(2010)
J Mol Endocrinol
, vol.45
, Issue.6
, pp. 355-364
-
-
Riminucci, M.1
Gehron Robey, P.2
Saggio, I.3
Bianco, P.4
-
33
-
-
15244351083
-
Coordinate dualgene transgenesis by lentiviral vectors carrying synthetic bidirectional promoters
-
Amendola M, Venneri MA, Biffi A, Vigna E, Naldini L. Coordinate dualgene transgenesis by lentiviral vectors carrying synthetic bidirectional promoters. Nat Biotechnol. 2005;23(1):108-16.
-
(2005)
Nat Biotechnol
, vol.23
, Issue.1
, pp. 108-116
-
-
Amendola, M.1
Venneri, M.A.2
Biffi, A.3
Vigna, E.4
Naldini, L.5
-
34
-
-
0034006976
-
Adenoviral-mediated gene transfer into ex vivo expanded human bone marrow mesenchymal progenitor cells
-
Conget PA, Minguell JJ. Adenoviral-mediated gene transfer into ex vivo expanded human bone marrow mesenchymal progenitor cells. Exp Hematol. 2000;28(4):382-90.
-
(2000)
Exp Hematol
, vol.28
, Issue.4
, pp. 382-390
-
-
Conget, P.A.1
Minguell, J.J.2
-
35
-
-
0000557447
-
-
Fields BN, Knipe DM, Howley PM, editors, Philadelphia: Lippincott Williams & Wilkins
-
Shenk T, Horwitz MS. Adenoviridae. In: Fields BN, Knipe DM, Howley PM, editors. Virology. Philadelphia: Lippincott Williams & Wilkins; 1996. p.2111-71.
-
(1996)
Virology
, pp. 2111-2171
-
-
Shenk, T.1
Horwitz, M.S.2
-
36
-
-
33744991560
-
Rapid generation of stable transgenic embryonic stem cell lines using modular lentivectors
-
Suter DM, Cartier L, Bettiol E, et al. Rapid generation of stable transgenic embryonic stem cell lines using modular lentivectors. Stem Cells. 2006;24:615-23.
-
(2006)
Stem Cells
, vol.24
, pp. 615-623
-
-
Suter, D.M.1
Cartier, L.2
Bettiol, E.3
-
37
-
-
77949396566
-
G protein coupled receptors in embryonic stem cells: A role for Gsa signaling
-
Layden BT, Newman M, Chen F, Fisher A, Lowe WL Jr. G protein coupled receptors in embryonic stem cells: a role for Gsa signaling. PlosOne. 2010;5:e9105.
-
(2010)
PlosOne
, vol.5
, pp. e9105
-
-
Layden, B.T.1
Newman, M.2
Chen, F.3
Fisher, A.4
Lowe, W.L.5
-
38
-
-
44349142926
-
Endochondral bone tissue engineering using embryonic stem cells
-
Jukes J, Both S, Leusink A, Sterk L, van Blitterswijk C, de Boer J. Endochondral bone tissue engineering using embryonic stem cells. Proc Natl Acd Sci USA. 2008;105:6840-5.
-
(2008)
Proc Natl Acd Sci USA
, vol.105
, pp. 6840-6845
-
-
Jukes, J.1
Both, S.2
Leusink, A.3
Sterk, L.4
Van Blitterswijk, C.5
De Boer, J.6
-
39
-
-
84889410465
-
Fibrous dysplasia
-
Favus M, editor, Washington, DC: ASBMR
-
Collins MT, Riminucci M, Bianco P. Fibrous dysplasia. In: Favus M, editor. Primer of metabolic bone diseases, 7th ed. Washington, DC: ASBMR; 2007. p.423-7.
-
(2007)
Primer of metabolic bone diseases, 7th ed
, pp. 423-427
-
-
Collins, M.T.1
Riminucci, M.2
Bianco, P.3
-
40
-
-
84879844705
-
Fibrous dysplasia
-
Fletcher C, Bridge JA, Hogendoorn P, Mertens F, editors, Lyon, France: IARC
-
Siegal G, Dal Cin P. Fibrous dysplasia. In: Fletcher C, Bridge JA, Hogendoorn P, Mertens F, editors. WHO classification of tumors of soft tissue and bone, 4th ed. Lyon, France: IARC; 2013.
-
(2013)
WHO classification of tumors of soft tissue and bone, 4th ed
-
-
Siegal, G.1
Dal Cin, P.2
-
41
-
-
0032544019
-
The human GNAS1 gene is imprinted,encodes distinct paternally,biallelically expressed G proteins
-
Hayward BE, Kamiya M, Strain L, et al. The human GNAS1 gene is imprinted,encodes distinct paternally,biallelically expressed G proteins. Proc Natl Acad Sci USA. 1998;95(17):10038-43.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, Issue.17
, pp. 10038-10043
-
-
Hayward, B.E.1
Kamiya, M.2
Strain, L.3
-
42
-
-
0032433682
-
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
-
Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA. 1998;95 (26):15475-80.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, Issue.26
, pp. 15475-15480
-
-
Hayward, B.E.1
Moran, V.2
Strain, L.3
Bonthron, D.T.4
-
43
-
-
0031754596
-
Constitutively active Gs alpha is associated with an increased phosphodiesterase activity in human growth hormone-secreting adenomas
-
Lania A, Persani L, Ballare E, Mantovani S, Losa M, Spada A. Constitutively active Gs alpha is associated with an increased phosphodiesterase activity in human growth hormone-secreting adenomas. J Clin Endocrinol Metab. 1998;83(5):1624-8.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, Issue.5
, pp. 1624-1628
-
-
Lania, A.1
Persani, L.2
Ballare, E.3
Mantovani, S.4
Losa, M.5
Spada, A.6
-
44
-
-
0029166561
-
Activation of cyclic nucleotide phosphodiesterases in FRTL-5 thyroid cells expressing a constitutively active Gs alpha
-
Nemoz G, Sette C, Hess M, Muca C, Vallar L, Conti M. Activation of cyclic nucleotide phosphodiesterases in FRTL-5 thyroid cells expressing a constitutively active Gs alpha. Mol Endocrinol. 1995;9 (10):1279-87.
-
(1995)
Mol Endocrinol
, vol.9
, Issue.10
, pp. 1279-1287
-
-
Nemoz, G.1
Sette, C.2
Hess, M.3
Muca, C.4
Vallar, L.5
Conti, M.6
-
45
-
-
0034880394
-
Relevant cAMP-specific phosphodiesterase isoforms in human pituitary: Effect of Gs(alpha) mutations
-
Persani L, Borgato S, Lania A, et al. Relevant cAMP-specific phosphodiesterase isoforms in human pituitary: effect of Gs(alpha) mutations. J Clin Endocrinol Metab. 2001;86(8):3795-800.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, Issue.8
, pp. 3795-800
-
-
Persani, L.1
Borgato, S.2
Lania, A.3
-
46
-
-
70350133628
-
Decreased expression and activity of cAMP phosphodiesterases in cardiac hypertrophy and its impact on beta-adrenergic cAMP signals
-
Abi-Gerges A, Richter W, Lefebvre F, et al. Decreased expression and activity of cAMP phosphodiesterases in cardiac hypertrophy and its impact on beta-adrenergic cAMP signals. Circ Res. 2009; 05(8):784-92.
-
(2009)
Circ Res
, vol.5
, Issue.8
, pp. 784-792
-
-
Abi-Gerges, A.1
Richter, W.2
Lefebvre, F.3
|