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Volumn 26, Issue 5, 2011, Pages 918-919

Identification of genetic modifiers of monogenic (bone) diseases: New tools available, but with limitations

Author keywords

[No Author keywords available]

Indexed keywords

OSTEOCLAST DIFFERENTIATION FACTOR; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B; TRANSFORMING GROWTH FACTOR BETA1;

EID: 79955628932     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1002/jbmr.391     Document Type: Note
Times cited : (5)

References (10)
  • 1
    • 79955627772 scopus 로고    scopus 로고
    • Camurati-Engelmann Disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand
    • Whyte MP, Totty WG, Novack DV, Zhang X, Wenkert D, Mumm S., Camurati-Engelmann Disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. J Bone Miner Res. 2011; 26: 920-933.
    • (2011) J Bone Miner Res. , vol.26 , pp. 920-933
    • Whyte, M.P.1    Totty, W.G.2    Novack, D.V.3    Zhang, X.4    Wenkert, D.5    Mumm, S.6
  • 2
    • 0033763317 scopus 로고    scopus 로고
    • Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease
    • Janssens K, Gershoni-Baruch R, Guanabens N, et al. Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. Nat Genet. 2000; 26: 273-275.
    • (2000) Nat Genet. , vol.26 , pp. 273-275
    • Janssens, K.1    Gershoni-Baruch, R.2    Guanabens, N.3
  • 3
    • 0033822170 scopus 로고    scopus 로고
    • Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
    • Kinoshita A, Saito T, Tomita H, et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet. 2000; 26: 19-20.
    • (2000) Nat Genet. , vol.26 , pp. 19-20
    • Kinoshita, A.1    Saito, T.2    Tomita, H.3
  • 6
    • 78651479733 scopus 로고    scopus 로고
    • New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: Focus on the RANK/RANKL axis
    • Crockett JC, Mellis DJ, Scott DI, Helfrich MH., New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis. Osteoporos Int. 2011; 22: 1-20.
    • (2011) Osteoporos Int. , vol.22 , pp. 1-20
    • Crockett, J.C.1    Mellis, D.J.2    Scott, D.I.3    Helfrich, M.H.4
  • 7
    • 0037470182 scopus 로고    scopus 로고
    • Transforming growth factor-β1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein
    • DOI 10.1074/jbc.M208857200
    • Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W., Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem. 2003; 278: 7718-7724. (Pubitemid 36800782)
    • (2003) Journal of Biological Chemistry , vol.278 , Issue.9 , pp. 7718-7724
    • Janssens, K.1    Ten Dijke, P.2    Ralston, S.H.3    Bergmann, C.4    Van Hul, W.5
  • 8
    • 67650506105 scopus 로고    scopus 로고
    • TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation
    • Tang Y, Wu X, Lei W, et al. TGF-beta1-induced migration of bone mesenchymal stem cells couples bone resorption with formation. Nat Med. 2009; 15: 757-765.
    • (2009) Nat Med. , vol.15 , pp. 757-765
    • Tang, Y.1    Wu, X.2    Lei, W.3
  • 10
    • 78049412267 scopus 로고    scopus 로고
    • Diversity of human copy number variation and multicopy genes
    • Sudmant PH, Kitzman JO, Antonacci F, et al. Diversity of human copy number variation and multicopy genes. Science. 2010; 330: 641-646.
    • (2010) Science. , vol.330 , pp. 641-646
    • Sudmant, P.H.1    Kitzman, J.O.2    Antonacci, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.