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Volumn 15, Issue 7, 2005, Pages 928-935

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SCLEROSTIN; UNCLASSIFIED DRUG;

EID: 22244474640     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.3437105     Document Type: Article
Times cited : (395)

References (35)
  • 5
    • 0032577276 scopus 로고    scopus 로고
    • Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton
    • Brunet, L.J., McMahon, J.A., McMahon, A.P., and Harland, R.M. 1998. Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 280: 1455-1457.
    • (1998) Science , vol.280 , pp. 1455-1457
    • Brunet, L.J.1    McMahon, J.A.2    McMahon, A.P.3    Harland, R.M.4
  • 7
    • 0041761326 scopus 로고    scopus 로고
    • Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends
    • Chuzhanova, N., Abeysinghe, S.S., Krawczak, M., and Cooper, D.N. 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum. Mutat. 22: 245-251.
    • (2003) Hum. Mutat. , vol.22 , pp. 245-251
    • Chuzhanova, N.1    Abeysinghe, S.S.2    Krawczak, M.3    Cooper, D.N.4
  • 8
    • 0343953085 scopus 로고    scopus 로고
    • Long-distance control of origin choice and replication timing in the human β-globin locus are independent of the locus control region
    • Cimbora, D.M., Schubeler, D., Reik, A., Hamilton, J., Francastel, C., Epner, E.M., and Groudine, M. 2000. Long-distance control of origin choice and replication timing in the human β-globin locus are independent of the locus control region. Mol. Cell. Biol. 20: 5581-5591.
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 5581-5591
    • Cimbora, D.M.1    Schubeler, D.2    Reik, A.3    Hamilton, J.4    Francastel, C.5    Epner, E.M.6    Groudine, M.7
  • 9
    • 0023917561 scopus 로고
    • The inactive β globin gene on a γ δ β thalassemia chromosome has a normal structure and functions normally in vitro
    • Curtin, P.T. and Kan, Y.W. 1988. The inactive β globin gene on a γ δ β thalassemia chromosome has a normal structure and functions normally in vitro. Blood 71: 766-770.
    • (1988) Blood , vol.71 , pp. 766-770
    • Curtin, P.T.1    Kan, Y.W.2
  • 10
    • 0022351149 scopus 로고
    • A distant gene deletion affects β-globin gene function in an atypical γ δ β-thalassemia
    • Curtin, P., Pirastu, M., Kan, Y.W., Gobert-Jones, J.A., Stephens, A.D., and Lehmann, H. 1985. A distant gene deletion affects β-globin gene function in an atypical γ δ β-thalassemia. J. Clin. Invest. 76: 1554-1558.
    • (1985) J. Clin. Invest. , vol.76 , pp. 1554-1558
    • Curtin, P.1    Pirastu, M.2    Kan, Y.W.3    Gobert-Jones, J.A.4    Stephens, A.D.5    Lehmann, H.6
  • 13
    • 0041630893 scopus 로고    scopus 로고
    • The natural history of sclerosteosis
    • Hamersma, H., Gardner, J., and Beighton, P. 2003. The natural history of sclerosteosis. Clin. Genet. 63: 192-197.
    • (2003) Clin. Genet. , vol.63 , pp. 192-197
    • Hamersma, H.1    Gardner, J.2    Beighton, P.3
  • 14
    • 0029788204 scopus 로고    scopus 로고
    • Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy
    • Ionasescu, V.V., Searby, C., Ionasescu, R., Neuhaus, I.M., and Werner, R. 1996. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47: 541-544.
    • (1996) Neurology , vol.47 , pp. 541-544
    • Ionasescu, V.V.1    Searby, C.2    Ionasescu, R.3    Neuhaus, I.M.4    Werner, R.5
  • 15
    • 0037743636 scopus 로고    scopus 로고
    • Gremlin is the BMP antagonist required for maintenance of Shh and Fgf signals during limb patterning
    • Khokha, M.K., Hsu, D., Brunet, L.J., Dionne, M.S., and Harland, R.M. 2003. Gremlin is the BMP antagonist required for maintenance of Shh and Fgf signals during limb patterning. Nat. Genet. 34: 303-307.
    • (2003) Nat. Genet. , vol.34 , pp. 303-307
    • Khokha, M.K.1    Hsu, D.2    Brunet, L.J.3    Dionne, M.S.4    Harland, R.M.5
  • 16
    • 0034782502 scopus 로고    scopus 로고
    • Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
    • Kleinjan, D.A., Seawright, A., Schedl, A., Quinlan, R.A., Danes, S., and van Heyningen, V. 2001. Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum. Mol. Genet. 10: 2049-2059.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2049-2059
    • Kleinjan, D.A.1    Seawright, A.2    Schedl, A.3    Quinlan, R.A.4    Danes, S.5    Van Heyningen, V.6
  • 17
    • 0035308590 scopus 로고    scopus 로고
    • A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA
    • Lee, E.C., Yu, D., Martinez de Velasco, J., Tessarollo, L., Swing, D.A., Court, D.L., Jenkins, N.A., and Copeland, N.G. 2001. A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA. Genomics 73: 56-65.
    • (2001) Genomics , vol.73 , pp. 56-65
    • Lee, E.C.1    Yu, D.2    Martinez De Velasco, J.3    Tessarollo, L.4    Swing, D.A.5    Court, D.L.6    Jenkins, N.A.7    Copeland, N.G.8
  • 19
    • 21244480924 scopus 로고    scopus 로고
    • Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling
    • Li, X., Zhang, Y., Kang, H., Liu, W., Liu, P., Zhang, J., Harris, S.E., and Wu, D. 2005. Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling. J. Biol. Chem. 280: 19883-19887.
    • (2005) J. Biol. Chem. , vol.280 , pp. 19883-19887
    • Li, X.1    Zhang, Y.2    Kang, H.3    Liu, W.4    Liu, P.5    Zhang, J.6    Harris, S.E.7    Wu, D.8
  • 20
    • 0142010691 scopus 로고    scopus 로고
    • The concerted action of Meox homeobox genes is required upstream of genetic pathways essential for the formation, patterning and differentiation of somites
    • Mankoo, B.S., Skuntz, S., Harrigan, I., Grigorieva, E., Candia, A., Wright, C.V., Arnheiter, H., and Pachnis, V. 2003. The concerted action of Meox homeobox genes is required upstream of genetic pathways essential for the formation, patterning and differentiation of somites. Development 130: 4655-4664.
    • (2003) Development , vol.130 , pp. 4655-4664
    • Mankoo, B.S.1    Skuntz, S.2    Harrigan, I.3    Grigorieva, E.4    Candia, A.5    Wright, C.V.6    Arnheiter, H.7    Pachnis, V.8
  • 21
    • 0141519291 scopus 로고    scopus 로고
    • A general approach for identifying distant regulatory elements applied to the Gdf6 gene
    • Mortlock, D.P., Guenther, C., and Kingsley, D.M. 2003. A general approach for identifying distant regulatory elements applied to the Gdf6 gene. Genome Res. 13: 2069-2081.
    • (2003) Genome Res. , vol.13 , pp. 2069-2081
    • Mortlock, D.P.1    Guenther, C.2    Kingsley, D.M.3
  • 22
    • 0142084743 scopus 로고    scopus 로고
    • Scanning human gene deserts for long-range enhancers
    • Nobrega, M.A., Ovcharenko, I., Afzal, V., and Rubin, E.M. 2003. Scanning human gene deserts for long-range enhancers. Science 302: 413.
    • (2003) Science , vol.302 , pp. 413
    • Nobrega, M.A.1    Ovcharenko, I.2    Afzal, V.3    Rubin, E.M.4
  • 23
    • 1542347045 scopus 로고    scopus 로고
    • Picture: Dynamic alignment and visualization tool for analyzing conservation profiles
    • Ovcharenko, I., Loots, G.G., Hardison, R.C., Miller, W., and Stubbs, L. 2004. zPicture: Dynamic alignment and visualization tool for analyzing conservation profiles. Genome Res. 14: 472-477.
    • (2004) Genome Res. , vol.14 , pp. 472-477
    • Ovcharenko, I.1    Loots, G.G.2    Hardison, R.C.3    Miller, W.4    Stubbs, L.5
  • 24
    • 0023488581 scopus 로고
    • Bone histomorphometry: Standardization of nomenclature, symbols, and units
    • Report of the ASBMR Histomorphometry Nomenclature Committee.
    • Parfitt, A.M., Drezner, M.K., Glorieux, F.H., Kanis, J.A., Malluche, H., Meunier, P.J., Ott, S.M., and Recker, R.R. 1987. Bone histomorphometry: Standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J. Bone Miner. Res. 2: 595-610.
    • (1987) J. Bone Miner. Res. , vol.2 , pp. 595-610
    • Parfitt, A.M.1    Drezner, M.K.2    Glorieux, F.H.3    Kanis, J.A.4    Malluche, H.5    Meunier, P.J.6    Ott, S.M.7    Recker, R.R.8
  • 25
    • 2642525330 scopus 로고    scopus 로고
    • Disruption of Meox or Gli activity ablates skeletal myogenesis in P19 cells
    • Petropoulos, H., Gianakopoulos, P.J., Ridgeway, A.G., and Skerjanc, I.S. 2004. Disruption of Meox or Gli activity ablates skeletal myogenesis in P19 cells. J. Biol. Chem. 279: 23874-23881.
    • (2004) J. Biol. Chem. , vol.279 , pp. 23874-23881
    • Petropoulos, H.1    Gianakopoulos, P.J.2    Ridgeway, A.G.3    Skerjanc, I.S.4
  • 33
    • 0034738077 scopus 로고    scopus 로고
    • Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene
    • Wang, H.L., Wu, T., Chang, W.T., Li, A.H., Chen, M.S., Wu, C.Y., and Fang, W. 2000. Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. Brain Res. Mol. Brain Res. 78: 146-153.
    • (2000) Brain Res. Mol. Brain Res. , vol.78 , pp. 146-153
    • Wang, H.L.1    Wu, T.2    Chang, W.T.3    Li, A.H.4    Chen, M.S.5    Wu, C.Y.6    Fang, W.7
  • 34
    • 9144265626 scopus 로고    scopus 로고
    • Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal
    • Wergedal, J.E., Veskovic, K., Hellan, M., Nyght, C., Balemans, W., Libanati, C., Vanhoenacker, F.M., Tan, J., Baylink, D.J., and Van Hul, W. 2003. Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal. J. Clin. Endocrinol. Metab. 88: 5778-5783.
    • (2003) J. Clin. Endocrinol. Metab. , vol.88 , pp. 5778-5783
    • Wergedal, J.E.1    Veskovic, K.2    Hellan, M.3    Nyght, C.4    Balemans, W.5    Libanati, C.6    Vanhoenacker, F.M.7    Tan, J.8    Baylink, D.J.9    Van Hul, W.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.