-
1
-
-
42749094400
-
Genetics and aetiology of pagetic disorders of bone
-
Helfrich M.H., Hocking L.J. Genetics and aetiology of pagetic disorders of bone. Arch Biochem Biophys 2008, 473:172-182.
-
(2008)
Arch Biochem Biophys
, vol.473
, pp. 172-182
-
-
Helfrich, M.H.1
Hocking, L.J.2
-
3
-
-
46749127771
-
Pathogenesis and management of Paget's disease of bone
-
Ralston S.H., Langston A.L., Reid I.R. Pathogenesis and management of Paget's disease of bone. Lancet 2008, 372:155-163.
-
(2008)
Lancet
, vol.372
, pp. 155-163
-
-
Ralston, S.H.1
Langston, A.L.2
Reid, I.R.3
-
5
-
-
34548147590
-
Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone
-
Beyens G., Daroszewska A., de Freitas F., et al. Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone. J Bone Miner Res 2007, 22:1062-1071.
-
(2007)
J Bone Miner Res
, vol.22
, pp. 1062-1071
-
-
Beyens, G.1
Daroszewska, A.2
de Freitas, F.3
-
6
-
-
34247861003
-
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone
-
Morissette J., Laurin N., Brown J.P. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J Bone Miner Res 2006, 21(Suppl. 2):P38-P44.
-
(2006)
J Bone Miner Res
, vol.21
, Issue.SUPPL. 2
-
-
Morissette, J.1
Laurin, N.2
Brown, J.P.3
-
7
-
-
77749301510
-
Recent advances in understanding the molecular basis of Paget's disease of bone
-
Goode A., Layfield R. Recent advances in understanding the molecular basis of Paget's disease of bone. J Clin Pathol 2010, 63:199-203.
-
(2010)
J Clin Pathol
, vol.63
, pp. 199-203
-
-
Goode, A.1
Layfield, R.2
-
8
-
-
33846479861
-
Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations
-
Collet C., Michou L., Audran M., et al. Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. J Bone Miner Res 2007, 22:310-317.
-
(2007)
J Bone Miner Res
, vol.22
, pp. 310-317
-
-
Collet, C.1
Michou, L.2
Audran, M.3
-
9
-
-
61849097834
-
Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone
-
Merchant A., Smielewska M., Patel N., et al. Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone. J Bone Miner Res 2009, 24:484-494.
-
(2009)
J Bone Miner Res
, vol.24
, pp. 484-494
-
-
Merchant, A.1
Smielewska, M.2
Patel, N.3
-
10
-
-
59749096578
-
Absence of somatic SQSTM1 mutations in Paget's disease of bone
-
Matthews B.G., Naot D., Bava U., et al. Absence of somatic SQSTM1 mutations in Paget's disease of bone. J Clin Endocrinol Metab 2009, 94:691-694.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 691-694
-
-
Matthews, B.G.1
Naot, D.2
Bava, U.3
-
11
-
-
70349764552
-
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts
-
Chamoux E., Couture J., Bisson M., et al. The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. Mol Endocrinol 2009, 23:1668-1680.
-
(2009)
Mol Endocrinol
, vol.23
, pp. 1668-1680
-
-
Chamoux, E.1
Couture, J.2
Bisson, M.3
-
12
-
-
76249090326
-
-
PB1 domain interaction of p62/sequestosome 1 and MEKK3 regulates NF-kappaB activation.
-
Nakamura K, Kimple AJ, Siderovski DP, et al. PB1 domain interaction of p62/sequestosome 1 and MEKK3 regulates NF-kappaB activation. J Biol Chem 2010;285:2077-89.
-
(2010)
J Biol Chem
, vol.285
, pp. 2077-2089
-
-
Nakamura, K.1
Kimple, A.J.2
Siderovski, D.P.3
-
13
-
-
33846009075
-
Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease
-
Kurihara N., Hiruma Y., Zhou H., et al. Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease. J Clin Invest 2007, 117:133-142.
-
(2007)
J Clin Invest
, vol.117
, pp. 133-142
-
-
Kurihara, N.1
Hiruma, Y.2
Zhou, H.3
-
14
-
-
56049117643
-
A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment
-
Hiruma Y., Kurihara N., Subler M.A., et al. A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. Hum Mol Genet 2008, 17:3708-3719.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3708-3719
-
-
Hiruma, Y.1
Kurihara, N.2
Subler, M.A.3
-
15
-
-
34247844681
-
G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome
-
Weinstein L.S. G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome. J Bone Miner Res 2006, 21(Suppl. 2):P120-P124.
-
(2006)
J Bone Miner Res
, vol.21
, Issue.SUPPL. 2
-
-
Weinstein, L.S.1
-
16
-
-
40349098935
-
Fibrous dysplasia of bone and McCune-Albright syndrome
-
Chapurlat R.D., Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol 2008, 22:55-69.
-
(2008)
Best Pract Res Clin Rheumatol
, vol.22
, pp. 55-69
-
-
Chapurlat, R.D.1
Orcel, P.2
-
18
-
-
2442473829
-
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study
-
Lumbroso S., Paris F., Sultan C. Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. J Clin Endocrinol Metab 2004, 89:2107-2113.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2107-2113
-
-
Lumbroso, S.1
Paris, F.2
Sultan, C.3
-
19
-
-
0029778906
-
Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy
-
Ringel M.D., Schwindinger W.F., Levine M.A. Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine (Baltimore) 1996, 75:171-184.
-
(1996)
Medicine (Baltimore)
, vol.75
, pp. 171-184
-
-
Ringel, M.D.1
Schwindinger, W.F.2
Levine, M.A.3
-
20
-
-
27544440629
-
A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia
-
Lietman S.A., Ding C., Levine M.A. A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Joint Surg Am 2005, 87:2489-2494.
-
(2005)
J Bone Joint Surg Am
, vol.87
, pp. 2489-2494
-
-
Lietman, S.A.1
Ding, C.2
Levine, M.A.3
-
21
-
-
0032433682
-
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
-
Hayward B.E., 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, 95:15475-15480.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 15475-15480
-
-
Hayward, B.E.1
Moran, V.2
Strain, L.3
-
22
-
-
69249122988
-
McCune-Albright syndrome in a discordant monozygotic twin
-
Peleg R., Luba A., Eliakim A., et al. McCune-Albright syndrome in a discordant monozygotic twin. Isr Med Assoc J 2009, 11:343-347.
-
(2009)
Isr Med Assoc J
, vol.11
, pp. 343-347
-
-
Peleg, R.1
Luba, A.2
Eliakim, A.3
-
23
-
-
28244466312
-
A clinical and molecular overview of the human osteopetroses
-
Balemans W., Van Wesenbeeck L., Van Hul W. A clinical and molecular overview of the human osteopetroses. Calcif Tissue Int 2005, 77:263-264.
-
(2005)
Calcif Tissue Int
, vol.77
, pp. 263-264
-
-
Balemans, W.1
Van Wesenbeeck, L.2
Van Hul, W.3
-
24
-
-
37349108189
-
Genetics, pathogenesis and complications of osteopetrosis
-
Del Fattore A., Cappariello A., Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone 2008, 42:19-29.
-
(2008)
Bone
, vol.42
, pp. 19-29
-
-
Del Fattore, A.1
Cappariello, A.2
Teti, A.3
-
25
-
-
34547521058
-
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
-
Sobacchi C., Frattini A., Guerrini M.M., et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet 2007, 39:960-962.
-
(2007)
Nat Genet
, vol.39
, pp. 960-962
-
-
Sobacchi, C.1
Frattini, A.2
Guerrini, M.M.3
-
28
-
-
0037373341
-
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density
-
Van Wesenbeeck L., Cleiren E., Gram J., et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 2003, 72:763-771.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 763-771
-
-
Van Wesenbeeck, L.1
Cleiren, E.2
Gram, J.3
-
29
-
-
26944474402
-
Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes
-
Chu K., Koller D.L., Snyder R., et al. Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. Bone 2005, 37:655-661.
-
(2005)
Bone
, vol.37
, pp. 655-661
-
-
Chu, K.1
Koller, D.L.2
Snyder, R.3
-
30
-
-
58049100952
-
Advances in osteoclast biology resulting from the study of osteopetrotic mutations
-
Segovia-Silvestre T., Neutzsky-Wulff A.V., Sorensen M.G., et al. Advances in osteoclast biology resulting from the study of osteopetrotic mutations. Hum Genet 2009, 124:561-577.
-
(2009)
Hum Genet
, vol.124
, pp. 561-577
-
-
Segovia-Silvestre, T.1
Neutzsky-Wulff, A.V.2
Sorensen, M.G.3
-
31
-
-
74149085374
-
Classification of osteogenesis imperfecta revisited
-
Van Dijk F.S., Pals G., Van Rijn R.R., et al. Classification of osteogenesis imperfecta revisited. Eur J Med Genet 2009, 53:1-5.
-
(2009)
Eur J Med Genet
, vol.53
, pp. 1-5
-
-
Van Dijk, F.S.1
Pals, G.2
Van Rijn, R.R.3
-
33
-
-
45449115949
-
[Ostéogenèse imparfaite, annonce du diagnostic (classification clinique et génétique)]
-
Baujat G., Lebre A.S., Cormier-Daire V., et al. [Ostéogenèse imparfaite, annonce du diagnostic (classification clinique et génétique)]. Arch Pediatr 2008, 15:789-791.
-
(2008)
Arch Pediatr
, vol.15
, pp. 789-791
-
-
Baujat, G.1
Lebre, A.S.2
Cormier-Daire, V.3
-
34
-
-
1942501149
-
Osteogenesis imperfecta
-
Rauch F., Glorieux F.H. Osteogenesis imperfecta. Lancet 2004, 363:1377-1385.
-
(2004)
Lancet
, vol.363
, pp. 1377-1385
-
-
Rauch, F.1
Glorieux, F.H.2
-
35
-
-
69549096354
-
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition
-
Basel D., Steiner R.D. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med 2009, 11:375-385.
-
(2009)
Genet Med
, vol.11
, pp. 375-385
-
-
Basel, D.1
Steiner, R.D.2
-
36
-
-
70350506376
-
PPIB mutations cause severe osteogenesis imperfecta
-
van Dijk F.S., Nesbitt I.M., Zwikstra E.H., et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 2009, 85:521-527.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 521-527
-
-
van Dijk, F.S.1
Nesbitt, I.M.2
Zwikstra, E.H.3
-
37
-
-
33750207868
-
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta
-
Morello R., Bertin T.K., Chen Y., et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006, 127:291-304.
-
(2006)
Cell
, vol.127
, pp. 291-304
-
-
Morello, R.1
Bertin, T.K.2
Chen, Y.3
-
38
-
-
33847321022
-
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
-
Cabral W.A., Chang W., Barnes A.M., et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 2007, 39:359-365.
-
(2007)
Nat Genet
, vol.39
, pp. 359-365
-
-
Cabral, W.A.1
Chang, W.2
Barnes, A.M.3
-
39
-
-
42549157989
-
Osteogenesis imperfecta: update on presentation and management
-
Cheung M.S., Glorieux F.H. Osteogenesis imperfecta: update on presentation and management. Rev Endocr Metab Disord 2008, 9:153-160.
-
(2008)
Rev Endocr Metab Disord
, vol.9
, pp. 153-160
-
-
Cheung, M.S.1
Glorieux, F.H.2
|