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Volumn 49, Issue 5, 2011, Pages 1010-1019

High-bone-mass-producing mutations in the Wnt signaling pathway result in distinct skeletal phenotypes

Author keywords

High bone mass; Lrp5; Sclerostin; Sost; Wnt

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; SCLEROSTIN; SEROTONIN; WNT PROTEIN;

EID: 80054839269     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2011.07.034     Document Type: Article
Times cited : (63)

References (35)
  • 2
    • 18044386744 scopus 로고    scopus 로고
    • LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
    • Gong Y., Slee R.B., Fukai N., Rawadi G., Roman-Roman S., Reginato A.M., et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001, 107:513-523.
    • (2001) Cell , vol.107 , pp. 513-523
    • Gong, Y.1    Slee, R.B.2    Fukai, N.3    Rawadi, G.4    Roman-Roman, S.5    Reginato, A.M.6
  • 3
    • 2342529785 scopus 로고    scopus 로고
    • Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites
    • Ferrari S.L., Deutsch S., Choudhury U., Chevalley T., Bonjour J.P., Dermitzakis E.T., et al. Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites. Am J Hum Genet 2004, 74:866-875.
    • (2004) Am J Hum Genet , vol.74 , pp. 866-875
    • Ferrari, S.L.1    Deutsch, S.2    Choudhury, U.3    Chevalley, T.4    Bonjour, J.P.5    Dermitzakis, E.T.6
  • 4
    • 0036138175 scopus 로고    scopus 로고
    • A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait
    • Little R.D., Carulli J.P., Del Mastro R.G., Dupuis J., Osborne M., Folz C., et al. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 2002, 70:11-19.
    • (2002) Am J Hum Genet , vol.70 , pp. 11-19
    • Little, R.D.1    Carulli, J.P.2    Del Mastro, R.G.3    Dupuis, J.4    Osborne, M.5    Folz, C.6
  • 5
    • 0037373341 scopus 로고    scopus 로고
    • 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., Beals R.K., Benichou O., Scopelliti D., 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    Beals, R.K.4    Benichou, O.5    Scopelliti, D.6
  • 6
    • 0035282968 scopus 로고    scopus 로고
    • Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
    • Balemans W., Ebeling M., Patel N., Van Hul E., Olson P., Dioszegi M., et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet 2001, 10:537-543.
    • (2001) Hum Mol Genet , vol.10 , pp. 537-543
    • Balemans, W.1    Ebeling, M.2    Patel, N.3    Van Hul, E.4    Olson, P.5    Dioszegi, M.6
  • 7
    • 18244403197 scopus 로고    scopus 로고
    • Identification of a 52kb deletion downstream of the SOST gene in patients with van Buchem disease
    • Balemans W., Patel N., Ebeling M., Van Hul E., Wuyts W., Lacza C., et al. Identification of a 52kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 2002, 39:91-97.
    • (2002) J Med Genet , vol.39 , pp. 91-97
    • Balemans, W.1    Patel, N.2    Ebeling, M.3    Van Hul, E.4    Wuyts, W.5    Lacza, C.6
  • 8
    • 18444400214 scopus 로고    scopus 로고
    • A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population
    • Staehling-Hampton K., Proll S., Paeper B.W., Zhao L., Charmley P., Brown A., et al. A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. Am J Med Genet 2002, 110:144-152.
    • (2002) Am J Med Genet , vol.110 , pp. 144-152
    • Staehling-Hampton, K.1    Proll, S.2    Paeper, B.W.3    Zhao, L.4    Charmley, P.5    Brown, A.6
  • 10
    • 0017258367 scopus 로고
    • The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals
    • Beighton P., Durr L., Hamersma H. The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. Ann Intern Med 1976, 84:393-397.
    • (1976) Ann Intern Med , vol.84 , pp. 393-397
    • Beighton, P.1    Durr, L.2    Hamersma, H.3
  • 12
    • 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., et al. Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling. J Biol Chem 2005, 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
  • 13
    • 22844445934 scopus 로고    scopus 로고
    • SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor
    • Semenov M., Tamai K., He X. SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor. J Biol Chem 2005, 280:26770-26775.
    • (2005) J Biol Chem , vol.280 , pp. 26770-26775
    • Semenov, M.1    Tamai, K.2    He, X.3
  • 14
    • 33845994036 scopus 로고    scopus 로고
    • LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST
    • Semenov M.V., He X. LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST. J Biol Chem 2006, 281:38276-38284.
    • (2006) J Biol Chem , vol.281 , pp. 38276-38284
    • Semenov, M.V.1    He, X.2
  • 15
    • 33846449190 scopus 로고    scopus 로고
    • Bone density ligand, sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity
    • Ellies D.L., Viviano B., McCarthy J., Rey J.P., Itasaki N., Saunders S., et al. Bone density ligand, sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity. J Bone Miner Res 2006, 21:1738-1749.
    • (2006) J Bone Miner Res , vol.21 , pp. 1738-1749
    • Ellies, D.L.1    Viviano, B.2    McCarthy, J.3    Rey, J.P.4    Itasaki, N.5    Saunders, S.6
  • 17
    • 44449099165 scopus 로고    scopus 로고
    • Targeted deletion of the sclerostin gene in mice results in increased bone formation and bone strength
    • Li X., Ominsky M.S., Niu Q.T., Sun N., Daugherty B., D'Agostin D., et al. Targeted deletion of the sclerostin gene in mice results in increased bone formation and bone strength. J Bone Miner Res 2008, 23:860-869.
    • (2008) J Bone Miner Res , vol.23 , pp. 860-869
    • Li, X.1    Ominsky, M.S.2    Niu, Q.T.3    Sun, N.4    Daugherty, B.5    D'Agostin, D.6
  • 18
    • 56349162283 scopus 로고    scopus 로고
    • Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum
    • Yadav V.K., Ryu J.H., Suda N., Tanaka K.F., Gingrich J.A., Schutz G., et al. Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum. Cell 2008, 135:825-837.
    • (2008) Cell , vol.135 , pp. 825-837
    • Yadav, V.K.1    Ryu, J.H.2    Suda, N.3    Tanaka, K.F.4    Gingrich, J.A.5    Schutz, G.6
  • 19
    • 33747674263 scopus 로고    scopus 로고
    • The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment
    • Sawakami K., Robling A.G., Ai M., Pitner N.D., Liu D., Warden S.J., et al. The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment. J Biol Chem 2006, 281:23698-23711.
    • (2006) J Biol Chem , vol.281 , pp. 23698-23711
    • Sawakami, K.1    Robling, A.G.2    Ai, M.3    Pitner, N.D.4    Liu, D.5    Warden, S.J.6
  • 20
    • 0035992661 scopus 로고    scopus 로고
    • Improved bone structure and strength after long-term mechanical loading is greatest if loading is separated into short bouts
    • Robling A.G., Hinant F.M., Burr D.B., Turner C.H. Improved bone structure and strength after long-term mechanical loading is greatest if loading is separated into short bouts. J Bone Miner Res 2002, 17:1545-1554.
    • (2002) J Bone Miner Res , vol.17 , pp. 1545-1554
    • Robling, A.G.1    Hinant, F.M.2    Burr, D.B.3    Turner, C.H.4
  • 22
    • 0027175806 scopus 로고
    • Basic biomechanical measurements of bone: a tutorial
    • Turner C.H., Burr D.B. Basic biomechanical measurements of bone: a tutorial. Bone 1993, 14:595-608.
    • (1993) Bone , vol.14 , pp. 595-608
    • Turner, C.H.1    Burr, D.B.2
  • 23
    • 20344398197 scopus 로고    scopus 로고
    • Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling
    • Ai M., Holmen S.L., Van Hul W., Williams B.O., Warman M.L. Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling. Mol Cell Biol 2005, 25:4946-4955.
    • (2005) Mol Cell Biol , vol.25 , pp. 4946-4955
    • Ai, M.1    Holmen, S.L.2    Van Hul, W.3    Williams, B.O.4    Warman, M.L.5
  • 24
    • 2442656675 scopus 로고    scopus 로고
    • The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd
    • Zhang Y., Wang Y., Li X., Zhang J., Mao J., Li Z., et al. The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd. Mol Cell Biol 2004, 24:4677-4684.
    • (2004) Mol Cell Biol , vol.24 , pp. 4677-4684
    • Zhang, Y.1    Wang, Y.2    Li, X.3    Zhang, J.4    Mao, J.5    Li, Z.6
  • 25
    • 55249101949 scopus 로고    scopus 로고
    • The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations
    • Balemans W., Piters E., Cleiren E., Ai M., Van Wesenbeeck L., Warman M.L., et al. The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations. Calcif Tissue Int 2008, 82:445-453.
    • (2008) Calcif Tissue Int , vol.82 , pp. 445-453
    • Balemans, W.1    Piters, E.2    Cleiren, E.3    Ai, M.4    Van Wesenbeeck, L.5    Warman, M.L.6
  • 26
    • 79957612758 scopus 로고    scopus 로고
    • Bone overgrowth-associated mutations in LRP4 impair sclerostin-facilitator function
    • Leupin O., Piters E., Halleux C., Hu S., Kramer I., Morvan F., et al. Bone overgrowth-associated mutations in LRP4 impair sclerostin-facilitator function. J Biol Chem 2011, 286:19489-19500.
    • (2011) J Biol Chem , vol.286 , pp. 19489-19500
    • Leupin, O.1    Piters, E.2    Halleux, C.3    Hu, S.4    Kramer, I.5    Morvan, F.6
  • 27
    • 33846155569 scopus 로고    scopus 로고
    • LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction
    • Weatherbee S.D., Anderson K.V., Niswander L.A. LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction. Development 2006, 133:4993-5000.
    • (2006) Development , vol.133 , pp. 4993-5000
    • Weatherbee, S.D.1    Anderson, K.V.2    Niswander, L.A.3
  • 28
    • 70949101564 scopus 로고    scopus 로고
    • Lrp4, a novel receptor for Dickkopf 1 and sclerostin, is expressed by osteoblasts and regulates bone growth and turnover in vivo
    • Choi H.Y., Dieckmann M., Herz J., Niemeier A. Lrp4, a novel receptor for Dickkopf 1 and sclerostin, is expressed by osteoblasts and regulates bone growth and turnover in vivo. PLoS One 2009, 4:e7930.
    • (2009) PLoS One , vol.4
    • Choi, H.Y.1    Dieckmann, M.2    Herz, J.3    Niemeier, A.4
  • 31
    • 84907113531 scopus 로고
    • Ophthalmological complications in the sclerosing bone dysplasias
    • Beighton P., Hamersma H. Ophthalmological complications in the sclerosing bone dysplasias. Ophthalmic Paediatr Genet 1985, 6:129-134.
    • (1985) Ophthalmic Paediatr Genet , vol.6 , pp. 129-134
    • Beighton, P.1    Hamersma, H.2
  • 32
    • 0041630893 scopus 로고    scopus 로고
    • The natural history of sclerosteosis
    • Hamersma H., Gardner J., Beighton P. The natural history of sclerosteosis. Clin Genet 2003, 63:192-197.
    • (2003) Clin Genet , vol.63 , pp. 192-197
    • Hamersma, H.1    Gardner, J.2    Beighton, P.3
  • 33
    • 33846577355 scopus 로고    scopus 로고
    • Too much bone: the middle ear in sclerosing bone dysplasias
    • Hamersma H., Hofmeyr L. Too much bone: the middle ear in sclerosing bone dysplasias. Adv Otorhinolaryngol 2007, 65:61-67.
    • (2007) Adv Otorhinolaryngol , vol.65 , pp. 61-67
    • Hamersma, H.1    Hofmeyr, L.2
  • 34
    • 0022626402 scopus 로고
    • Sclerosteosis involving the temporal bone: histopathologic aspects
    • Nager G.T., Hamersma H. Sclerosteosis involving the temporal bone: histopathologic aspects. Am J Otolaryngol 1986, 7:1-16.
    • (1986) Am J Otolaryngol , vol.7 , pp. 1-16
    • Nager, G.T.1    Hamersma, H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.