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Volumn , Issue , 2013, Pages 361-374

Sclerosing Bone Disorders

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EID: 84883940059     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-387829-8.00023-8     Document Type: Chapter
Times cited : (3)

References (135)
  • 2
    • 0036771830 scopus 로고    scopus 로고
    • The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
    • Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, et al. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 2002, 11:2371-2375.
    • (2002) Hum Mol Genet , vol.11 , pp. 2371-2375
    • Smahi, A.1    Courtois, G.2    Rabia, S.H.3    Doffinger, R.4    Bodemer, C.5    Munnich, A.6
  • 4
    • 46349084493 scopus 로고    scopus 로고
    • Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
    • Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, et al. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet 2008, 83:64-76.
    • (2008) Am J Hum Genet , vol.83 , pp. 64-76
    • Guerrini, M.M.1    Sobacchi, C.2    Cassani, B.3    Abinun, M.4    Kilic, S.S.5    Pangrazio, A.6
  • 5
    • 0021877714 scopus 로고
    • Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
    • Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. New Engl J Med 1985, 313:139-145.
    • (1985) New Engl J Med , vol.313 , pp. 139-145
    • Sly, W.S.1    Whyte, M.P.2    Sundaram, V.3    Tashian, R.E.4    Hewett-Emmett, D.5    Guibaud, P.6
  • 6
    • 0034641590 scopus 로고    scopus 로고
    • Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis
    • Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, et al. Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 2000, 9:2059-2063.
    • (2000) Hum Mol Genet , vol.9 , pp. 2059-2063
    • Kornak, U.1    Schulz, A.2    Friedrich, W.3    Uhlhaas, S.4    Kremens, B.5    Voit, T.6
  • 7
    • 0035951282 scopus 로고    scopus 로고
    • Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
    • Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 2001, 104:205-215.
    • (2001) Cell , vol.104 , pp. 205-215
    • Kornak, U.1    Kasper, D.2    Bosl, M.R.3    Kaiser, E.4    Schweizer, M.5    Schulz, A.6
  • 8
    • 33745507483 scopus 로고    scopus 로고
    • Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement
    • Pangrazio A, Poliani PL, Megarbane A, Lefranc G, Lanino E, Di Rocco M, et al. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. J Bone Miner Res 2006, 21:1098-1105.
    • (2006) J Bone Miner Res , vol.21 , pp. 1098-1105
    • Pangrazio, A.1    Poliani, P.L.2    Megarbane, A.3    Lefranc, G.4    Lanino, E.5    Di Rocco, M.6
  • 9
    • 0037393446 scopus 로고    scopus 로고
    • Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
    • Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 2003, 9:399-406.
    • (2003) Nat Med , vol.9 , pp. 399-406
    • Chalhoub, N.1    Benachenhou, N.2    Rajapurohitam, V.3    Pata, M.4    Ferron, M.5    Frattini, A.6
  • 10
    • 34147150205 scopus 로고    scopus 로고
    • Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans
    • Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, et al. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest 2007, 117:919-930.
    • (2007) J Clin Invest , vol.117 , pp. 919-930
    • Van Wesenbeeck, L.1    Odgren, P.R.2    Coxon, F.P.3    Frattini, A.4    Moens, P.5    Perdu, B.6
  • 11
    • 18244389008 scopus 로고    scopus 로고
    • Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
    • Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, et al. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 2001, 10:2861-2867.
    • (2001) Hum Mol Genet , vol.10 , pp. 2861-2867
    • Cleiren, E.1    Benichou, O.2    Van Hul, E.3    Gram, J.4    Bollerslev, J.5    Singer, F.R.6
  • 12
    • 0029809357 scopus 로고    scopus 로고
    • Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
    • Gelb BD, Shi GP, Chapman HA, Desnick RJ Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996, 273:1236-1238.
    • (1996) Science , vol.273 , pp. 1236-1238
    • Gelb, B.D.1    Shi, G.P.2    Chapman, H.A.3    Desnick, R.J.4
  • 13
    • 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 RD, Carulli JP, Del Mastro RG, 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
  • 15
    • 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
  • 16
    • 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
  • 17
    • 0035089781 scopus 로고    scopus 로고
    • Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein
    • Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, et al. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet 2001, 68:577-589.
    • (2001) Am J Hum Genet , vol.68 , pp. 577-589
    • Brunkow, M.E.1    Gardner, J.C.2    Van Ness, J.3    Paeper, B.W.4    Kovacevich, B.R.5    Proll, S.6
  • 18
    • 58149157778 scopus 로고    scopus 로고
    • Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
    • Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, et al. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet 2009, 41:95-100.
    • (2009) Nat Genet , vol.41 , pp. 95-100
    • Jenkins, Z.A.1    van Kogelenberg, M.2    Morgan, T.3    Jeffs, A.4    Fukuzawa, R.5    Pearl, E.6
  • 19
    • 13544274478 scopus 로고    scopus 로고
    • Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
    • Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 2004, 36:1213-1218.
    • (2004) Nat Genet , vol.36 , pp. 1213-1218
    • Hellemans, J.1    Preobrazhenska, O.2    Willaert, A.3
  • 20
    • 0035041718 scopus 로고    scopus 로고
    • Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
    • Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, et al. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 2001, 28:37-41.
    • (2001) Nat Genet , vol.28 , pp. 37-41
    • Nurnberg, P.1    Thiele, H.2    Chandler, D.3    Hohne, W.4    Cunningham, M.L.5    Ritter, H.6
  • 21
    • 0034987026 scopus 로고    scopus 로고
    • Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
    • Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, et al. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 2001, 68:1321-1326.
    • (2001) Am J Hum Genet , vol.68 , pp. 1321-1326
    • Reichenberger, E.1    Tiziani, V.2    Watanabe, S.3    Park, L.4    Ueki, Y.5    Santanna, C.6
  • 22
    • 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, Migone N, Ralston S, Bonduelle M, 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    Migone, N.4    Ralston, S.5    Bonduelle, M.6
  • 25
    • 0032765892 scopus 로고    scopus 로고
    • Cell biology of the osteoclast
    • Roodman GD Cell biology of the osteoclast. Exp Hematol 1999, 27:1229-1241.
    • (1999) Exp Hematol , vol.27 , pp. 1229-1241
    • Roodman, G.D.1
  • 26
    • 33845984343 scopus 로고    scopus 로고
    • Molecular regulation of osteoclast activity
    • Bruzzaniti A, Baron R Molecular regulation of osteoclast activity. Rev Endocr Metab Disord 2006, 7:123-139.
    • (2006) Rev Endocr Metab Disord , vol.7 , pp. 123-139
    • Bruzzaniti, A.1    Baron, R.2
  • 27
    • 28244466312 scopus 로고    scopus 로고
    • 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, 77:263-274.
    • (2005) Calcif Tissue Int , vol.77 , pp. 263-274
    • Balemans, W.1    Van Wesenbeeck, L.2    Van Hul, W.3
  • 29
    • 37349108189 scopus 로고    scopus 로고
    • 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
  • 30
    • 0023179266 scopus 로고
    • Osteopetrosis-multiple pathways for the interception of osteoclast function
    • Marks SC Osteopetrosis-multiple pathways for the interception of osteoclast function. Appl Pathol 1987, 5:172-183.
    • (1987) Appl Pathol , vol.5 , pp. 172-183
    • Marks, S.C.1
  • 33
    • 0025332897 scopus 로고
    • The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene
    • Yoshida H, Hayashi S, Kunisada T, Ogawa M, Nishikawa S, Okamura H, et al. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature 1990, 345:442-444.
    • (1990) Nature , vol.345 , pp. 442-444
    • Yoshida, H.1    Hayashi, S.2    Kunisada, T.3    Ogawa, M.4    Nishikawa, S.5    Okamura, H.6
  • 35
    • 0033611467 scopus 로고    scopus 로고
    • OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis
    • Kong YY, Yoshida H, Sarosi I, Tan HL, Timms E, Capparelli C, et al. OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis. Nature 1999, 397:315-323.
    • (1999) Nature , vol.397 , pp. 315-323
    • Kong, Y.Y.1    Yoshida, H.2    Sarosi, I.3    Tan, H.L.4    Timms, E.5    Capparelli, C.6
  • 36
    • 0034718609 scopus 로고    scopus 로고
    • Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgene
    • Kim N, Odgren PR, Kim DK, Marks SC, Choi Y Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgene. Proc Natl Acad Sci U S A 2000, 97:10905-10910.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 10905-10910
    • Kim, N.1    Odgren, P.R.2    Kim, D.K.3    Marks, S.C.4    Choi, Y.5
  • 37
    • 33947583822 scopus 로고    scopus 로고
    • Osteoimmunology: shared mechanisms and crosstalk between the immune and bone systems
    • Takayanagi H Osteoimmunology: shared mechanisms and crosstalk between the immune and bone systems. Nat Rev Immunol 2007, 7:292-304.
    • (2007) Nat Rev Immunol , vol.7 , pp. 292-304
    • Takayanagi, H.1
  • 38
    • 0031005576 scopus 로고    scopus 로고
    • Osteoprotegerin: a novel secreted protein involved in the regulation of bone density
    • Simonet WS, Lacey DL, Dunstan CR, Kelley M, Chang MS, Luthy R, et al. Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Cell 1997, 89:309-319.
    • (1997) Cell , vol.89 , pp. 309-319
    • Simonet, W.S.1    Lacey, D.L.2    Dunstan, C.R.3    Kelley, M.4    Chang, M.S.5    Luthy, R.6
  • 39
    • 0032561198 scopus 로고    scopus 로고
    • The TRAF family of signal transducers mediates NF-kappaB activation by the TRANCE receptor
    • Wong BR, Josien R, Lee SY, Vologodskaia M, Steinman RM, Choi Y The TRAF family of signal transducers mediates NF-kappaB activation by the TRANCE receptor. J Biol Chem 1998, 273:28355-28359.
    • (1998) J Biol Chem , vol.273 , pp. 28355-28359
    • Wong, B.R.1    Josien, R.2    Lee, S.Y.3    Vologodskaia, M.4    Steinman, R.M.5    Choi, Y.6
  • 40
  • 42
    • 0037673945 scopus 로고    scopus 로고
    • Osteoclast differentiation and activation
    • Boyle WJ, Simonet WS, Lacey DL Osteoclast differentiation and activation. Nature 2003, 423:337-342.
    • (2003) Nature , vol.423 , pp. 337-342
    • Boyle, W.J.1    Simonet, W.S.2    Lacey, D.L.3
  • 43
    • 0038706164 scopus 로고    scopus 로고
    • Signal transduction by receptor activator of nuclear factor kappa B in osteoclasts
    • Lee ZH, Kim HH Signal transduction by receptor activator of nuclear factor kappa B in osteoclasts. Biochem Biophys Res Commun 2003, 305:211-214.
    • (2003) Biochem Biophys Res Commun , vol.305 , pp. 211-214
    • Lee, Z.H.1    Kim, H.H.2
  • 44
    • 8544267975 scopus 로고    scopus 로고
    • Essential role of p38 mitogen-activated protein kinase in cathepsin K gene expression during osteoclastogenesis through association of NFATc1 and PU.1
    • Matsumoto M, Kogawa M, Wada S, Takayanagi H, Tsujimoto M, Katayama S, et al. Essential role of p38 mitogen-activated protein kinase in cathepsin K gene expression during osteoclastogenesis through association of NFATc1 and PU.1. J Biol Chem 2004, 279:45969-45979.
    • (2004) J Biol Chem , vol.279 , pp. 45969-45979
    • Matsumoto, M.1    Kogawa, M.2    Wada, S.3    Takayanagi, H.4    Tsujimoto, M.5    Katayama, S.6
  • 45
    • 33947240223 scopus 로고    scopus 로고
    • Syk, c-Src, the alphavbeta3 integrin, and ITAM immunoreceptors, in concert, regulate osteoclastic bone resorption
    • Zou W, Kitaura H, Reeve J, Long F, Tybulewicz VL, Shattil SJ, et al. Syk, c-Src, the alphavbeta3 integrin, and ITAM immunoreceptors, in concert, regulate osteoclastic bone resorption. J Cell Biol 2007, 176:877-888.
    • (2007) J Cell Biol , vol.176 , pp. 877-888
    • Zou, W.1    Kitaura, H.2    Reeve, J.3    Long, F.4    Tybulewicz, V.L.5    Shattil, S.J.6
  • 46
    • 11144354330 scopus 로고    scopus 로고
    • Costimulatory signals mediated by the ITAM motif cooperate with RANKL for bone homeostasis
    • Koga T, Inui M, Inoue K, Kim S, Suematsu A, Kobayashi E, et al. Costimulatory signals mediated by the ITAM motif cooperate with RANKL for bone homeostasis. Nature 2004, 428:758-763.
    • (2004) Nature , vol.428 , pp. 758-763
    • Koga, T.1    Inui, M.2    Inoue, K.3    Kim, S.4    Suematsu, A.5    Kobayashi, E.6
  • 47
    • 11144355389 scopus 로고    scopus 로고
    • The immunomodulatory adapter proteins DAP12 and Fc receptor gamma-chain (FcRgamma) regulate development of functional osteoclasts through the Syk tyrosine kinase
    • Mocsai A, Humphrey MB, Van Ziffle JA, Hu Y, Burghardt A, Spusta SC, et al. The immunomodulatory adapter proteins DAP12 and Fc receptor gamma-chain (FcRgamma) regulate development of functional osteoclasts through the Syk tyrosine kinase. Proc Natl Acad Sci U S A 2004, 101:6158-6163.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 6158-6163
    • Mocsai, A.1    Humphrey, M.B.2    Van Ziffle, J.A.3    Hu, Y.4    Burghardt, A.5    Spusta, S.C.6
  • 48
    • 18744366041 scopus 로고    scopus 로고
    • Induction and activation of the transcription factor NFATc1 (NFAT2) integrate RANKL signaling in terminal differentiation of osteoclasts
    • Takayanagi H, Kim S, Koga T, Nishina H, Isshiki M, Yoshida H, et al. Induction and activation of the transcription factor NFATc1 (NFAT2) integrate RANKL signaling in terminal differentiation of osteoclasts. Dev Cell 2002, 3:889-901.
    • (2002) Dev Cell , vol.3 , pp. 889-901
    • Takayanagi, H.1    Kim, S.2    Koga, T.3    Nishina, H.4    Isshiki, M.5    Yoshida, H.6
  • 49
    • 0027304956 scopus 로고
    • Carbonic anhydrase II deficiency
    • Whyte MP Carbonic anhydrase II deficiency. Clin Orthop Relat Res 1993, 52-63.
    • (1993) Clin Orthop Relat Res , pp. 52-63
    • Whyte, M.P.1
  • 50
    • 0032696855 scopus 로고    scopus 로고
    • Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation
    • Fasth A, Porras O Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999, 3(Suppl. 1):102-107.
    • (1999) Pediatr Transplant , vol.3 , Issue.SUPPL. 1 , pp. 102-107
    • Fasth, A.1    Porras, O.2
  • 51
    • 0033756382 scopus 로고    scopus 로고
    • Autosomal recessive osteopetrosis: diagnosis, management, and outcome
    • Wilson CJ, Vellodi A Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child 2000, 83:449-452.
    • (2000) Arch Dis Child , vol.83 , pp. 449-452
    • Wilson, C.J.1    Vellodi, A.2
  • 52
    • 0000251936 scopus 로고
    • Osteopetrosis acro-osteolytica. A syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull
    • Andren L, Dymling JF, Hogeman KE, Wendeberg B Osteopetrosis acro-osteolytica. A syndrome of osteopetrosis, acro-osteolysis and open sutures of the skull. Acta Chir Scand 1962, 124:496-507.
    • (1962) Acta Chir Scand , vol.124 , pp. 496-507
    • Andren, L.1    Dymling, J.F.2    Hogeman, K.E.3    Wendeberg, B.4
  • 54
    • 0029939413 scopus 로고    scopus 로고
    • Immunocytochemical localization of vacuolar H+-ATPase and Cl--HCO3- anion exchanger (erythrocyte band-3 protein) in avian osteoclasts: effect of calcium-deficient diet on polar expression of the H+-ATPase pump
    • Bastani B, Ross FP, Kopito RR, Gluck SL Immunocytochemical localization of vacuolar H+-ATPase and Cl--HCO3- anion exchanger (erythrocyte band-3 protein) in avian osteoclasts: effect of calcium-deficient diet on polar expression of the H+-ATPase pump. Calcif Tissue Int 1996, 58:332-336.
    • (1996) Calcif Tissue Int , vol.58 , pp. 332-336
    • Bastani, B.1    Ross, F.P.2    Kopito, R.R.3    Gluck, S.L.4
  • 55
    • 2342632645 scopus 로고    scopus 로고
    • Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis
    • Ramirez A, Faupel J, Goebel I, Stiller A, Beyer S, Stockle C, et al. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Hum Mutat 2004, 23:471-476.
    • (2004) Hum Mutat , vol.23 , pp. 471-476
    • Ramirez, A.1    Faupel, J.2    Goebel, I.3    Stiller, A.4    Beyer, S.5    Stockle, C.6
  • 56
    • 33644861728 scopus 로고    scopus 로고
    • ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function
    • Lange PF, Wartosch L, Jentsch TJ, Fuhrmann JC ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function. Nature 2006, 440:220-223.
    • (2006) Nature , vol.440 , pp. 220-223
    • Lange, P.F.1    Wartosch, L.2    Jentsch, T.J.3    Fuhrmann, J.C.4
  • 57
    • 0023568265 scopus 로고
    • Autosomal dominant osteopetrosis (a family study)
    • Bollerslev J, Grodum E, Grontved A Autosomal dominant osteopetrosis (a family study). J Laryngol Otol 1987, 101:1088-1091.
    • (1987) J Laryngol Otol , vol.101 , pp. 1088-1091
    • Bollerslev, J.1    Grodum, E.2    Grontved, A.3
  • 58
    • 0024389809 scopus 로고
    • Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects
    • Bollerslev J Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 1989, 10:45-67.
    • (1989) Endocr Rev , vol.10 , pp. 45-67
    • Bollerslev, J.1
  • 60
    • 10744229008 scopus 로고    scopus 로고
    • Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
    • Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, et al. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 2003, 18:1740-1747.
    • (2003) J Bone Miner Res , vol.18 , pp. 1740-1747
    • Frattini, A.1    Pangrazio, A.2    Susani, L.3    Sobacchi, C.4    Mirolo, M.5    Abinun, M.6
  • 63
    • 53849137994 scopus 로고    scopus 로고
    • Vesicular trafficking in osteoclasts
    • Coxon FP, Taylor A Vesicular trafficking in osteoclasts. Semin Cell Dev Biol 2008, 19:424-433.
    • (2008) Semin Cell Dev Biol , vol.19 , pp. 424-433
    • Coxon, F.P.1    Taylor, A.2
  • 64
    • 24644501631 scopus 로고    scopus 로고
    • Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology
    • Van Wesenbeeck L, Van Hul W Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology. Crit Rev Eukaryot Gene Express 2005, 15:133-162.
    • (2005) Crit Rev Eukaryot Gene Express , vol.15 , pp. 133-162
    • Van Wesenbeeck, L.1    Van Hul, W.2
  • 65
    • 0016145901 scopus 로고
    • Pycnodysostosis in Japan: report of six cases and a review of Japaneses literature
    • Sugiura Y, Yamada Y, Ko J Pycnodysostosis in Japan: report of six cases and a review of Japaneses literature. Birth Defects Orig Artic Ser 1974, 10:78-98.
    • (1974) Birth Defects Orig Artic Ser , vol.10 , pp. 78-98
    • Sugiura, Y.1    Yamada, Y.2    Ko, J.3
  • 66
    • 73649185887 scopus 로고
    • [Pyknodysostosis.]
    • Maroteaux P, Lamy M [Pyknodysostosis.]. Presse Med 1962, 70:999-1002.
    • (1962) Presse Med , vol.70 , pp. 999-1002
    • Maroteaux, P.1    Lamy, M.2
  • 67
    • 34250642771 scopus 로고    scopus 로고
    • Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online
    • Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, et al. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online. Hum Mutat 2007, 28:524.
    • (2007) Hum Mutat , vol.28 , pp. 524
    • Donnarumma, M.1    Regis, S.2    Tappino, B.3    Rosano, C.4    Assereto, S.5    Corsolini, F.6
  • 68
    • 0030026637 scopus 로고    scopus 로고
    • Human cathepsin O2, a matrix protein-degrading cysteine protease expressed in osteoclasts. Functional expression of human cathepsin O2 in Spodoptera frugiperda and characterization of the enzyme
    • Bromme D, Okamoto K, Wang BB, Biroc S Human cathepsin O2, a matrix protein-degrading cysteine protease expressed in osteoclasts. Functional expression of human cathepsin O2 in Spodoptera frugiperda and characterization of the enzyme. J Biol Chem 1996, 271:2126-2132.
    • (1996) J Biol Chem , vol.271 , pp. 2126-2132
    • Bromme, D.1    Okamoto, K.2    Wang, B.B.3    Biroc, S.4
  • 70
    • 0028835637 scopus 로고
    • Molecular cloning of human cathepsin O, a novel endoproteinase and homologue of rabbit OC2
    • Shi GP, Chapman HA, Bhairi SM, DeLeeuw C, Reddy VY, Weiss SJ Molecular cloning of human cathepsin O, a novel endoproteinase and homologue of rabbit OC2. FEBS Lett 1995, 357:129-134.
    • (1995) FEBS Lett , vol.357 , pp. 129-134
    • Shi, G.P.1    Chapman, H.A.2    Bhairi, S.M.3    DeLeeuw, C.4    Reddy, V.Y.5    Weiss, S.J.6
  • 71
    • 0029097802 scopus 로고
    • Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas
    • Li YP, Alexander M, Wucherpfennig AL, Yelick P, Chen W, Stashenko P Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas. J Bone Miner Res 1995, 10:1197-1202.
    • (1995) J Bone Miner Res , vol.10 , pp. 1197-1202
    • Li, Y.P.1    Alexander, M.2    Wucherpfennig, A.L.3    Yelick, P.4    Chen, W.5    Stashenko, P.6
  • 72
    • 0021991222 scopus 로고
    • Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis
    • Everts V, Aronson DC, Beertsen W Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis. Calcif Tissue Int 1985, 37:25-31.
    • (1985) Calcif Tissue Int , vol.37 , pp. 25-31
    • Everts, V.1    Aronson, D.C.2    Beertsen, W.3
  • 73
    • 0030678549 scopus 로고    scopus 로고
    • Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation
    • Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell 1997, 89:747-754.
    • (1997) Cell , vol.89 , pp. 747-754
    • Ducy, P.1    Zhang, R.2    Geoffroy, V.3    Ridall, A.L.4    Karsenty, G.5
  • 74
    • 0030684749 scopus 로고    scopus 로고
    • Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
    • Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, et al. Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 1997, 89:755-764.
    • (1997) Cell , vol.89 , pp. 755-764
    • Komori, T.1    Yagi, H.2    Nomura, S.3    Yamaguchi, A.4    Sasaki, K.5    Deguchi, K.6
  • 75
    • 0037059614 scopus 로고    scopus 로고
    • The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation
    • Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, Behringer RR, et al. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell 2002, 108:17-29.
    • (2002) Cell , vol.108 , pp. 17-29
    • Nakashima, K.1    Zhou, X.2    Kunkel, G.3    Zhang, Z.4    Deng, J.M.5    Behringer, R.R.6
  • 77
    • 79952276219 scopus 로고    scopus 로고
    • Sclerosing bone disorders: too much of a good thing
    • Perdu B, Van Hul W Sclerosing bone disorders: too much of a good thing. Crit Rev Eukaryot Gene Expr 2010, 20:195-212.
    • (2010) Crit Rev Eukaryot Gene Expr , vol.20 , pp. 195-212
    • Perdu, B.1    Van Hul, W.2
  • 79
    • 18044386744 scopus 로고    scopus 로고
    • LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
    • Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, 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
  • 80
    • 34447526757 scopus 로고    scopus 로고
    • Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling
    • Balemans W, Devogelaer JP, Cleiren E, Piters E, Caussin E, Van Hul W Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling. J Bone Miner Res 2007, 22:708-716.
    • (2007) J Bone Miner Res , vol.22 , pp. 708-716
    • Balemans, W.1    Devogelaer, J.P.2    Cleiren, E.3    Piters, E.4    Caussin, E.5    Van Hul, W.6
  • 81
    • 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 RK, Bénichou 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    Bénichou, O.5    Scopelliti, D.6
  • 82
    • 0242381919 scopus 로고    scopus 로고
    • WNT and FGF gene clusters (review)
    • Katoh M WNT and FGF gene clusters (review). Int J Oncol 2002, 21:1269-1273.
    • (2002) Int J Oncol , vol.21 , pp. 1269-1273
    • Katoh, M.1
  • 83
    • 0037066744 scopus 로고    scopus 로고
    • Drosophila segment polarity gene product porcupine stimulates the posttranslational N-glycosylation of wingless in the endoplasmic reticulum
    • Tanaka K, Kitagawa Y, Kadowaki T Drosophila segment polarity gene product porcupine stimulates the posttranslational N-glycosylation of wingless in the endoplasmic reticulum. J Biol Chem 2002, 277:12816-12823.
    • (2002) J Biol Chem , vol.277 , pp. 12816-12823
    • Tanaka, K.1    Kitagawa, Y.2    Kadowaki, T.3
  • 84
    • 4043154959 scopus 로고    scopus 로고
    • Drosophila Wnt-1 undergoes a hydrophobic modification and is targeted to lipid rafts, a process that requires porcupine
    • Zhai L, Chaturvedi D, Cumberledge S Drosophila Wnt-1 undergoes a hydrophobic modification and is targeted to lipid rafts, a process that requires porcupine. J Biol Chem 2004, 279:33220-33227.
    • (2004) J Biol Chem , vol.279 , pp. 33220-33227
    • Zhai, L.1    Chaturvedi, D.2    Cumberledge, S.3
  • 85
    • 33744775324 scopus 로고    scopus 로고
    • Canonical Wnt signaling in osteoblasts is required for osteoclast differentiation
    • Glass DA, Karsenty G Canonical Wnt signaling in osteoblasts is required for osteoclast differentiation. Ann N Y Acad Sci 2006, 1068:117-130.
    • (2006) Ann N Y Acad Sci , vol.1068 , pp. 117-130
    • Glass, D.A.1    Karsenty, G.2
  • 86
    • 0029781509 scopus 로고    scopus 로고
    • Functional interaction of beta-catenin with the transcription factor LEF-1
    • Behrens J, von Kries JP, Kuhl M, Bruhn L, Wedlich D, Grosschedl R, et al. Functional interaction of beta-catenin with the transcription factor LEF-1. Nature 1996, 382:638-642.
    • (1996) Nature , vol.382 , pp. 638-642
    • Behrens, J.1    von Kries, J.P.2    Kuhl, M.3    Bruhn, L.4    Wedlich, D.5    Grosschedl, R.6
  • 87
    • 5044228112 scopus 로고    scopus 로고
    • Wnt signaling in osteoblasts and bone diseases
    • Westendorf JJ, Kahler RA, Schroeder TM Wnt signaling in osteoblasts and bone diseases. Gene 2004, 341:19-39.
    • (2004) Gene , vol.341 , pp. 19-39
    • Westendorf, J.J.1    Kahler, R.A.2    Schroeder, T.M.3
  • 88
    • 35748976556 scopus 로고    scopus 로고
    • Fat or bone? A non-canonical decision
    • Günther T, Schüle R Fat or bone? A non-canonical decision. Nat Cell Biol 2007, 9:1229-1231.
    • (2007) Nat Cell Biol , vol.9 , pp. 1229-1231
    • Günther, T.1    Schüle, R.2
  • 90
    • 33646808104 scopus 로고    scopus 로고
    • Wnt signalling in osteoblasts regulates expression of the receptor activator of NFkappaB ligand and inhibits osteoclastogenesis in vitro
    • Spencer GJ, Utting JC, Etheridge SL, Arnett TR, Genever PG Wnt signalling in osteoblasts regulates expression of the receptor activator of NFkappaB ligand and inhibits osteoclastogenesis in vitro. J Cell Sci 2006, 119:1283-1296.
    • (2006) J Cell Sci , vol.119 , pp. 1283-1296
    • Spencer, G.J.1    Utting, J.C.2    Etheridge, S.L.3    Arnett, T.R.4    Genever, P.G.5
  • 91
    • 52949105706 scopus 로고    scopus 로고
    • Lrp6 hypomorphic mutation affects bone mass through bone resorption in mice and impairs interaction with Mesd
    • Kubota T, Michigami T, Sakaguchi N, Kokubu C, Suzuki A, Namba N, et al. Lrp6 hypomorphic mutation affects bone mass through bone resorption in mice and impairs interaction with Mesd. J Bone Miner Res 2008, 23:1661-1671.
    • (2008) J Bone Miner Res , vol.23 , pp. 1661-1671
    • Kubota, T.1    Michigami, T.2    Sakaguchi, N.3    Kokubu, C.4    Suzuki, A.5    Namba, N.6
  • 94
    • 0001049651 scopus 로고
    • An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris
    • Van Buchem FS, Hadders HN, Ubbens R An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris. Acta Radiol 1955, 44:109-120.
    • (1955) Acta Radiol , vol.44 , pp. 109-120
    • Van Buchem, F.S.1    Hadders, H.N.2    Ubbens, R.3
  • 95
  • 97
    • 77954135190 scopus 로고    scopus 로고
    • First Missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function
    • Piters E, Culha C, Moester M, Van Bezooijen RL, Adriaensen D, Mueller T, et al. First Missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function. Hum Mutat 2010, 31:E1526-E1543.
    • (2010) Hum Mutat , vol.31
    • Piters, E.1    Culha, C.2    Moester, M.3    Van Bezooijen, R.L.4    Adriaensen, D.5    Mueller, T.6
  • 98
    • 33845994036 scopus 로고    scopus 로고
    • Lrp5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST
    • Semenov MV, 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
  • 99
    • 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 SL, Van Hul W, Williams BO, Warman ML 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
  • 100
    • 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 ML, 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
  • 101
    • 79957612758 scopus 로고    scopus 로고
    • Bone overgrowth-associated mutations in LRP4 impair sclerostin-facilitator function
    • Leupin O, Piters E, Boudin E, De Freitas F, Bueno M, Ramos 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    Boudin, E.3    De Freitas, F.4    Bueno, M.5    Ramos, F.6
  • 102
    • 0034933057 scopus 로고    scopus 로고
    • Novel mechanism of Wnt signalling inhibition mediated by Dickkopf-1 interaction with LRP6/Arrow
    • Bafico A, Liu G, Yaniv A, Gazit A, Aaronson SA Novel mechanism of Wnt signalling inhibition mediated by Dickkopf-1 interaction with LRP6/Arrow. Nat Cell Biol 2001, 3:683-686.
    • (2001) Nat Cell Biol , vol.3 , pp. 683-686
    • Bafico, A.1    Liu, G.2    Yaniv, A.3    Gazit, A.4    Aaronson, S.A.5
  • 103
    • 53149087478 scopus 로고    scopus 로고
    • Characterization of the Kremen-binding site on Dkk1 and elucidation of the role of Kremen in Dkk-mediated Wnt antagonism
    • Wang K, Zhang Y, Li X, Chen L, Wang H, Wu J, et al. Characterization of the Kremen-binding site on Dkk1 and elucidation of the role of Kremen in Dkk-mediated Wnt antagonism. J Biol Chem 2008, 283:23371-23375.
    • (2008) J Biol Chem , vol.283 , pp. 23371-23375
    • Wang, K.1    Zhang, Y.2    Li, X.3    Chen, L.4    Wang, H.5    Wu, J.6
  • 104
    • 0039174251 scopus 로고    scopus 로고
    • Secreted frizzled-related protein-1 binds directly to Wingless and is a biphasic modulator of Wnt signaling
    • Uren A, Reichsman F, Anest V, Taylor WG, Muraiso K, Bottaro DP, et al. Secreted frizzled-related protein-1 binds directly to Wingless and is a biphasic modulator of Wnt signaling. J Biol Chem 2000, 275:4374-4382.
    • (2000) J Biol Chem , vol.275 , pp. 4374-4382
    • Uren, A.1    Reichsman, F.2    Anest, V.3    Taylor, W.G.4    Muraiso, K.5    Bottaro, D.P.6
  • 106
    • 56349162283 scopus 로고    scopus 로고
    • Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum
    • Yadav VK, Ryu JH, Suda N, Tanaka KF, Gingrich JA, 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
  • 107
    • 0029362878 scopus 로고
    • Serotonin receptors. Genetic insights into serotonin function
    • Heath MJ, Hen R Serotonin receptors. Genetic insights into serotonin function. Curr Biol 1995, 5:997-999.
    • (1995) Curr Biol , vol.5 , pp. 997-999
    • Heath, M.J.1    Hen, R.2
  • 108
    • 77952749330 scopus 로고    scopus 로고
    • Leptin-dependent co-regulation of bone and energy metabolism
    • Yadav VK, Karsenty G Leptin-dependent co-regulation of bone and energy metabolism. Aging 2009, 1:954-956.
    • (2009) Aging , vol.1 , pp. 954-956
    • Yadav, V.K.1    Karsenty, G.2
  • 110
    • 0001523319 scopus 로고
    • L'image radiologique non encore décrite d'une anomalie du squelette
    • Voorhoeve N L'image radiologique non encore décrite d'une anomalie du squelette. Acta Radiol 1924, 3.
    • (1924) Acta Radiol , pp. 3
    • Voorhoeve, N.1
  • 111
    • 0002987910 scopus 로고
    • Osteopathia striata-Voorhoeve's disease; report of a case presenting the features of osteopathia striata and osteopetrosis
    • Hurt RL Osteopathia striata-Voorhoeve's disease; report of a case presenting the features of osteopathia striata and osteopetrosis. J Bone Joint Surg Br 1953, 35-B:89-96.
    • (1953) J Bone Joint Surg Br , pp. 89-96
    • Hurt, R.L.1
  • 116
    • 0017576174 scopus 로고
    • Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?
    • Happle R, Lenz W Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?. Br J Dermatol 1977, 96:133-135.
    • (1977) Br J Dermatol , vol.96 , pp. 133-135
    • Happle, R.1    Lenz, W.2
  • 117
    • 34347341670 scopus 로고    scopus 로고
    • Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia
    • Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 2007, 39:836-838.
    • (2007) Nat Genet , vol.39 , pp. 836-838
    • Wang, X.1    Reid Sutton, V.2    Omar Peraza-Llanes, J.3    Yu, Z.4    Rosetta, R.5    Kou, Y.C.6
  • 119
    • 0021354507 scopus 로고
    • Osteopoikilosis: a radiological and pathological study
    • Lagier R, Mbakop A, Bigler Osteopoikilosis: a radiological and pathological study. Skeletal Radiol 1984, 11:161-168.
    • (1984) Skeletal Radiol , vol.11 , pp. 161-168
    • Lagier, R.1    Mbakop, A.2    Bigler3
  • 120
    • 0026659229 scopus 로고
    • Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture
    • Giro MG, Duvic M, Smith LT, et al. Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. J Invest Dermatol 1992, 99:129-137.
    • (1992) J Invest Dermatol , vol.99 , pp. 129-137
    • Giro, M.G.1    Duvic, M.2    Smith, L.T.3
  • 121
    • 0041320836 scopus 로고    scopus 로고
    • Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family
    • Debeer P, Pykels E, Lammens J, Devriendt K, Fryns JP Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family. Am J Med Genet A 2003, 119A:188-193.
    • (2003) Am J Med Genet A , vol.119 A , pp. 188-193
    • Debeer, P.1    Pykels, E.2    Lammens, J.3    Devriendt, K.4    Fryns, J.P.5
  • 122
    • 66549090637 scopus 로고    scopus 로고
    • Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis
    • Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clin Genet 2009, 75:556-561.
    • (2009) Clin Genet , vol.75 , pp. 556-561
    • Zhang, Y.1    Castori, M.2    Ferranti, G.3    Paradisi, M.4    Wordsworth, B.P.5
  • 125
    • 0024358268 scopus 로고
    • Dominant craniometaphyseal dysplasia-a family study over five generations
    • Taylor DB, Sprague P Dominant craniometaphyseal dysplasia-a family study over five generations. Australas Radiol 1989, 33:84-89.
    • (1989) Australas Radiol , vol.33 , pp. 84-89
    • Taylor, D.B.1    Sprague, P.2
  • 126
    • 57449096364 scopus 로고    scopus 로고
    • Progressive ankylosis gene (ank) regulates osteoblast differentiation
    • Kirsch T, Kim HJ, Winkles JA Progressive ankylosis gene (ank) regulates osteoblast differentiation. Cells Tissues Organs 2009, 189:158-162.
    • (2009) Cells Tissues Organs , vol.189 , pp. 158-162
    • Kirsch, T.1    Kim, H.J.2    Winkles, J.A.3
  • 127
    • 66349090163 scopus 로고    scopus 로고
    • Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation
    • Baynam G, Goldblatt J, Schofield L Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. Am J Med Genet A 2009, 149A:1331-1333.
    • (2009) Am J Med Genet A , vol.149 A , pp. 1331-1333
    • Baynam, G.1    Goldblatt, J.2    Schofield, L.3
  • 128
    • 30744450220 scopus 로고    scopus 로고
    • Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment
    • Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, et al. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet 2006, 43:1-11.
    • (2006) J Med Genet , vol.43 , pp. 1-11
    • Janssens, K.1    Vanhoenacker, F.2    Bonduelle, M.3    Verbruggen, L.4    Van Maldergem, L.5    Ralston, S.6
  • 129
    • 0035853778 scopus 로고    scopus 로고
    • Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1
    • Saito T, Kinoshita A, Yoshiura K, Makita Y, Wakui K, Honke K, et al. Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. J Biol Chem 2001, 276:11469-11472.
    • (2001) J Biol Chem , vol.276 , pp. 11469-11472
    • Saito, T.1    Kinoshita, A.2    Yoshiura, K.3    Makita, Y.4    Wakui, K.5    Honke, K.6
  • 130
    • 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, Pang L, Wan C, Shi Z, 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    Pang, L.4    Wan, C.5    Shi, Z.6
  • 132
    • 0021946315 scopus 로고
    • Progressive diaphyseal dysplasia: evaluation of corticosteroid therapy
    • Naveh Y, Alon U, Kaftori JK, Berant M Progressive diaphyseal dysplasia: evaluation of corticosteroid therapy. Pediatrics 1985, 75:321-323.
    • (1985) Pediatrics , vol.75 , pp. 321-323
    • Naveh, Y.1    Alon, U.2    Kaftori, J.K.3    Berant, M.4
  • 133
    • 84883962911 scopus 로고    scopus 로고
    • Antiresorptive therapies for osteoporosis: a clinical overview
    • Chen JS, Sambrook PN Antiresorptive therapies for osteoporosis: a clinical overview. Nat Rev Endocrinol 2011, 2011(Sep):6.
    • (2011) Nat Rev Endocrinol , vol.2011 , Issue.SEP , pp. 6
    • Chen, J.S.1    Sambrook, P.N.2
  • 134
    • 79959412176 scopus 로고    scopus 로고
    • Osteoblasts in osteoporosis: past, emerging, and future anabolic targets
    • Marie PJ, Kassem M Osteoblasts in osteoporosis: past, emerging, and future anabolic targets. Eur J Endocrinol 2011, 165:1-10.
    • (2011) Eur J Endocrinol , vol.165 , pp. 1-10
    • Marie, P.J.1    Kassem, M.2
  • 135
    • 79955635177 scopus 로고    scopus 로고
    • Inhibition of sclerostin by monoclonal antibody enhances bone healing and improves bone density and strength of nonfractured bones
    • Ominsky MS, Li C, Li X, Tan HL, Lee E, Barrero M, et al. Inhibition of sclerostin by monoclonal antibody enhances bone healing and improves bone density and strength of nonfractured bones. J Bone Miner Res 2011, 26:1012-1021.
    • (2011) J Bone Miner Res , vol.26 , pp. 1012-1021
    • Ominsky, M.S.1    Li, C.2    Li, X.3    Tan, H.L.4    Lee, E.5    Barrero, M.6


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