Osteoporosis and Osteopetrosis

Handbook of Biomineralization: Biological Aspects and Structure Formation

Volumn 3, Issue , 2008, Pages 59-79

  Boskey, Adele L ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

Bone formation; Bone remodeling; Electron microscopy; FTIR microspectroscopy; Osteoblasts; Osteoclasts; Osteopetrosis; Osteoporosis; Raman spectroscopy; X ray diffraction

Indexed keywords

EID: 84877292894     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9783527619443.ch49     Document Type: Chapter

References (134)

1. N.E. Lane, Am. J. Obstet. Gynecol. 2006, 194, S3-S11.
2. St. Jude's Hospital Web Site, 2005, http://www.stjude.org/print/0,2510,404_2166_2944,00.html.
3. J. Bollerslev, Clin. Genet. 1987, 31, 86-90.
4. J. Bollerslev, P.E. Andersen, Jr., Acta Orthop. Scand. 1989, 60, 110-112.
5. J. Carolino, J.A. Perez, A. Popa, Am. Fam. Physician. 1998, 57, 1293-1296.
6. Y. Gong, M. Vikkula, L. Boon, J. Liu, P. Beighton, R. Ramesar, L. Peltonen, H. Somer, T. Hirose, B. Dallapiccola, A. De Paepe, W. Swoboda, B. Zabel, A. Superti-Furga, B. Steinmann, H.G. Brunner, A. Jans, R.G. Boles, W. Adkins, M.J. van den Boogaard, B.R. Olsen, M.L. Warman, Am. J. Hum. Genet. 1996, 59, 146-151.
7. H. Hartikka, O. Makitie, M. Mannikko, A.S. Doria, A. Daneman, W.G. Cole, L. Ala-Kokko, E.B. Sochett, J. Bone Miner. Res. 2005, 20, 783-789.
8. O. Makitie, A.S. Doria, F. Henriques, W.G. Cole, S. Compeyrot, E. Silverman, R. Laxer, A. Daneman, E.B. Sochett, J. Pediatr. 2005, 146, 395-401.
9. J. Dwyer, Am. J. Clin. Nutr. 2006, 83, 415S-420S.
10. F. Lazner, M. Gowen, D. Pavasovic, I. Kola, Hum. Mol. Genet. 1999, 8, 1839-1846.
11. H.C. Blair, L.J. Robinson, M. Zaidi, Biochem. Biophys. Res. Commun. 2005, 328, 728-738.
12. G. Russell, G. Mueller, C. Shipman, P. Croucher, Novartis Found. Symp. 2001, 232, 251-267.
13. C.G. Keith, Arch. Ophthal. 1968, 79, 234-241.
14. P. Maroteaux, M. Lamy, JAMA 1965, 191, 715-717.
15. A.L. Boskey, in: S.C. Cowin (Ed.), Bone Biomechanics, 3rd edn. CRC Press, Boca Raton, FL, 2001, pp. 5.1-5.34.
16. M.C. van der Meulen, K.J. Jepsen, B. Mikic, Bone 2001, 29, 101-104.
17. A. Boskey, R. Mendelsohn, J. Biomed. Opt. 2005, 10, 031102-031105.
18. A.L. Boskey, R. Mendelsohn, Vib. Spectrosc. 2005, 38, 107-114.
19. A. Carden, M.D. Morris, J. Biomed. Opt. 2000, 5, 259-268.
20. L.P. Schot, A.H. Schuurs, J. Steroid Biochem. Mol. Biol. 1990, 37, 461-465.
21. D.N. Kalu, Bone Miner. 1991, 15, 175-191.
22. W.S. Jee, W. Yao, J. Musculoskelet. Neuronal. Interact. 2001, 1, 193-207.
23. C.M. Bagi, S.C. Miller, B.M. Bowman, G.L. Blomstrom, E.P. France, Bone 1992, 13, 35-40.
24. L. Vico, J. Bone Miner. Res. 2003, 18, 561-569.
25. S.C. Manolagas, R.S. Weinstein, J. Bone Miner. Res. 1999, 14, 1061-1066.
26. N.E. Lane, W. Yao, M. Balooch, R.K. Nalla, G. Balooch, S. Habelitz, J.H. Kinney, L.F. Bonewald, J. Bone Miner. Res. 2006, 21, 466-476.
27. T. Takeda, M. Hosokawa, K. Higuchi, M. Hosono, I. Akiguchi, H. Katoh, Arch. Gerontol. Geriatr. 1994, 19, 185-192.
28. M.J. Silva, M.D. Brodt, Z. Fan, J.Y. Rho, J. Biomech. 2004, 37, 1639-1646.
29. S. Mohan, A. Kapoor, A. Singgih, Z. Zhang, T. Taylor, H. Yu, R.B. Chadwick, Y.S. Chung, L.R. Donahue, C. Rosen, G.C. Crawford, J. Wergedal, D.J. Baylink, J. Bone Miner. Res. 2005, 20, 1597-1610.
30. B. Bar-Shira-Maymon, R. Coleman, A. Cohen, E. Steinhagen-Thiessen, M. Silbermann, Calcif. Tissue Int. 1989, 44, 36-45.
31. M.J. Silva, M.D. Brodt, M. Ko, Y. Abu-Amer, J. Bone Miner. Res. 2005, 20, 419-427.
32. M.J. Silva, M.D. Brodt, B. Wopenka, S. Thomopoulos, D. Williams, M.H. Wassen, M. Ko, N. Kusano, R.A. Bank, J. Bone Miner. Res. 2006, 21, 78-88.
33. A.M. Delany, M. Amling, M. Priemel, C. Howe, R. Baron, E. Canalis, J. Clin. Invest. 2000, 105, 915-923.
34. D.T. Gilmour, G.J. Lyon, M.B. Carlton, J.R. Sanes, J.M. Cunningham, J.R. Anderson, B.L. Hogan, M.J. Evans, W.H. Colledge, EMBO J. 1998, 17, 1860-1870.
35. A.L. Boskey, D.J. Moore, M. Amling, E. Canalis, A.M. Delany, J. Bone Miner. Res. 2003, 18, 1005-1011.
36. D. Faibish, S.M. Ott, A.L. Boskey, Clin. Orthop. Relat. Res. 2006, 443, 28-38.
37. T. Xu, P. Bianco, L.W. Fisher, G. Longenecker, E. Smith, S. Goldstein, J. Bonadio, A. Boskey, A.M. Heegaard, B. Sommer, K. Satomura, P. Dominguez, C. Zhao, A.B. Kulkarni, P.G. Robey, M.F. Young, Nat. Genet. 1998, 20, 78-82.
38. A.L. Boskey, M.F. Young, T. Kilts, K. Verdelis, Cells Tissues Organs. 2005, 181, 144-153.
39. S. Viguet-Carrin, P. Garnero, P.D. Delmas, Osteoporosis Int. 2006, 17, 319-336.
40. K.J. Jepsen, M.B. Schaffler, J.L. Kuhn, R.W. Goulet, J. Bonadio, S.A. Goldstein, J. Biomech. 1997, 30, 1141-1147.
41. N.P. Camacho, L. Hou, T.R. Toledano, W.A. Ilg, C.F. Brayton, C.L. Raggio, L. Root, A.L. Boskey, J. Bone Miner. Res. 1999, 14, 264-272.
42. R. Pereira, J.S. Khillan, H.J. Helminen, E.L. Hume, D.J. Prockop, J. Clin. Invest. 1993, 91, 709-716.
43. K.M. Kozloff, A. Carden, C. Bergwitz, A. Forlino, T.E. Uveges, M.D. Morris, J.C. Marini, S.A. Goldstein, J. Bone Miner. Res. 2004, 19, 614-622.
44. D.O. Sillence, H.E. Ritchie, T. Dibbayawan, D. Eteson, K. Brown, Am. J. Med. Genet. 1993, 45, 276-283.
45. W. Traub, T. Arad, U. Vetter, S. Weiner, Matrix Biol. 1994, 14, 337-345.
46. U. Vetter, E.D. Eanes, J.B. Kopp, J.D. Termine, P.G. Robey, Calcif. Tissue Int. 1991, 49, 248-250.
47. J.Y. Reginster, N. Burlet, Bone 2006, 38, S4-S9.
48. D.B. Lewis, H.D. Liggitt, E.L. Effmann, S.T. Motley, S.L. Teitelbaum, K.J. Jepsen, S.A. Goldstein, J. Bonadio, J. Carpenter, R.M. Perlmutter, Proc. Natl. Acad. Sci. USA 1993, 90, 11618-11622.
49. E. Abe, J. Bone Miner. Res. 2000, 15, 663-673.
50. X.B. Wu, Y. Li, A. Schneider, W. Yu, G. Rajendren, J. Iqbal, M. Yamamoto, M. Alam, L.J. Brunet, H.C. Blair, M. Zaidi, E. Abe, J. Clin. Invest. 2003, 112, 924-934.
51. D.G. Winkler, M.K. Sutherland, J.C. Geoghegan, C. Yu, T. Hayes, J.E. Skonier, D. Shpektor, M. Jonas, B.R. Kovacevich, K. Staehling-Hampton, M. Appleby, M.E. Brunkow, J.A. Latham, EMBO J. 2003, 22, 6267-6276.
52. S.L. Ferrari, S. Deutsch, S.E. Antonarakis, Curr. Opin. Lipidol. 2005, 16, 207-214.
53. M. Bonyadi, S.D. Waldman, D. Liu, J.E. Aubin, M.D. Grynpas, W.L. Stanford, Proc. Natl. Acad. Sci. USA 2003, 100, 5840-5845.
54. N. Bucay, I. Sarosi, C.R. Dunstan, S. Morony, J. Tarpley, C. Capparelli, S. Scully, H.L. Tan, W. Xu, L.D. Lacey, W.J. Boyle, W.S. Simonet, Genes Dev. 1998, 12, 1260-1268.
55. P. Pogoda, M. Priemel, A.F. Schilling, M. Gebauer, P. Catala-Lehnen, F. Barvencik, F.T. Beil, C. Munch, M. Rupprecht, C. Muldner, J.M. Rueger, T. Schinke, M. Amling, J. Bone Miner. Metab. 2005, 23(Suppl.), 97-102.
56. M.C. Monier-Faugere, Z. Geng, Q. Qi, I. Arnala, H.H. Malluche, J. Bone Miner. Res. 1996, 11, 446-455.
57. A.S. Turner, Vet. J. 2002, 163, 232-239.
58. L. Mosekilde, S.E. Weisbrode, J.A. Safron, H.F. Stills, M.L. Jankowsky, D.C. Ebert, C.C. Danielsen, C.H. Sogaard, A.F. Franks, M.L. Stevens, Bone 1993, 14, 379-382.
59. C.P. Jerome, P.E. Peterson, Bone 2001, 29, 1-6.
60. M.D. Grynpas, B. Huckell, K.P. Pritzker, R.G. Hancock, M.J. Kessler, P. R. Health Sci. J. 1989, 8, 197-204.
61. M.D. Grynpas, P. Patterson-Allen, D.J. Simmons, Calcif. Tissue Int. 1986, 39, 57-62.
62. K. Lundon, M. Dumitriu, M. Grynpas, Bone Miner. 1994, 24, 135-149.
63. S.J. Gadeleta, A.L. Boskey, E. Paschalis, C. Carlson, F. Menschik, T. Baldini, M. Peterson, C.M. Rimnac, Bone 2000, 27, 541-550.
64. D. Pienkowski, T.M. Doers, M.C. Monier-Faugere, Z. Geng, N.P. Camacho, A.L. Boskey, H.H. Malluche, J. Bone Miner. Res. 1997, 12, 1936-1943.
65. L.M. Miller, J. Tibrewala, C.S. Carlson, Cell Mol. Biol. (Noisy-legrand) 2000, 46, 1035-1044.
66. W. Balemans, L. Van Wesenbeeck, W. Van Hul, Calcif. Tissue Int. 2005, 77, 263-274.
67. S.C. Marks, Jr., Clin. Orthop. Relat. Res. 1984, 189, 239-263.
68. A. Wojtowicz, A. Dziedzic-Goclawska, A. Kaminski, W. Stachowicz, K. Wojtowicz, S.C. Marks, Jr., M. Yamauchi, Bone 1997, 20, 127-132.
69. A.L. Boskey, S.C. Marks, Jr., Calcif Tissue Int. 1985, 37, 287-292.
70. N. Sakagami, N. Amizuka, M. Li, K. Takeuchi, M. Hoshino, M. Nakamura, K. Nozawa-Inoue, N. Udagawa, T. Maeda, Micron 2005, 36, 688-695.
71. M.E. Jackson, V. Shalhoub, J.B. Lian, G.S. Stein, S.C. Marks, Jr., J. Cell Biochem. 1994, 55, 366-372.
72. T.J. Martin, N.A. Sims, Trends Mol. Med. 2005, 11, 76-81.
73. J. Tuukkanen, A. Koivukangas, T. Jamsa, K. Sundquist, C.A. Mackay, S.C. Marks, Jr., J. Bone Miner. Res. 2000, 15, 1905-1911.
74. A. Boskey, Crit. Rev. Eukaryot. Gene Expr. 2003, 13, 109-116.
75. U. Kornak, D. Kasper, M.R. Bösl, E. Kaiser, M. Schweizer, A. Schulz, W. Friedrich, G. Delling, T.J. Jentsch, Cell 2001, 104, 205-215.
76. N. Chalhoub, N. Benachenhou, V. Rajapurohitam, M. Pata, M. Ferron, A. Frattini, A. Villa, J. Vacher, Nat. Med. 2003, 9, 399-406.
77. A. Ramirez, J. Faupel, I. Goebel, A. Stiller, S. Beyer, C. Stockle, C. Hasan, U. Bode, U. Kornak, C. Kubisch, Hum. Mutat. 2004, 23, 471-476.
78. P. Quarello, M. Forni, L. Barberis, C. Defilippi, M.F. Campagnoli, L. Silvestro, A. Frattini, N. Chalhoub, J. Vacher, U. Ramenghi, J. Bone Miner. Res. 2004, 19, 1194-1199.
79. S. Schaller, K. Henriksen, M.G. Sorensen, M.A. Karsdal, Drug News Perspect. 2005, 18, 489-495.
80. J.C. Scimeca, A. Franchi, C. Trojani, H. Parrinello, J. Grosgeorge, C. Robert, O. Jaillon, C. Poirier, P. Gaudray, G.F. Carle, Bone 2000, 26, 207-213.
81. K. Roundy, R. Smith, J.J. Weis, J.H. Weis, J. Bone Miner. Res. 2003, 18, 278-288.
82. T. Wada, T. Nakashima, N. Hiroshi, J.M. Penninger, Trends Mol. Med. 2006, 12, 17-25.
83. W.S. Hou, D. Bromme, Y. Zhao, E. Mehler, C. Dushey, H. Weinstein, C.S. Miranda, C. Fraga, F. Greig, J. Carey, D.L. Rimoin, R.J. Desnick, B.D. Gelb, J. Clin. Invest. 1999, 103, 731-738.
84. N. Fratzl-Zelman, A. Valenta, P. Roschger,A. Nader, B.D.Gelb, P.Fratzl, K. Klaushofer, J. Clin. Endocrinol. Metab. 2004, 89, 1538-1547.
85. M. Gowen, F. Lazner, R. Dodds, R. Kapadia, J. Feild, M. Tavaria, I. Bertoncello, F. Drake, S. Zavarselk, I. Tellis, P. Hertzog, C. Debouck, I. Kola, J. Bone Miner. Res. 1999, 14, 1654-1663.
86. C.Y. Li, K.J. Jepsen, R.J. Majeska, J. Zhang, R. Ni, B.D. Gelb, M.B. Schaffler, J. Bone Miner. Res. 2006, 21, 865-875.
87. H.W. Leipold, J.E. Cook, Am. J. Pathol. 1977, 86, 745-748.
88. R.B. Ashman, W.C. Van Buskirk, S.C. Cowin, P.M. Sandborn, M.K. Wells, J.C. Rice, Calcif. Tissue Int. 1985, 37, 73-76.
89. D.C. Wolf, W.G. Van Alstine, J. Vet. Diagn. Invest. 1989, 1, 262-264.
90. E.V. Schmidt, R.E. Smith, Am. J. Pathol. 1982, 106, 297-299.
91. R.E. Smith, Curr. Top Microbiol. Immunol. 1982, 101, 75-94.
92. R. Michael McClain, E. Wolz, A. Davidovich, F. Pfannkuch, J.A. Edwards, J. Bausch, Food Chem. Toxicol. 2006, 44, 56-80.
93. M.M. Tondravi, S.R. McKercher, K. Anderson, J.M. Erdmann, M. Quiroz, R. Maki, S.L. Teitelbaum, Nature 1997, 386, 81-84.
94. P. Soriano, C. Montgomery, R. Geske, A. Bradley, Cell 1991, 64, 693-702.
95. O. Jacenko, BioEssays 1995, 17, 277-281.
96. G.G. McGill, M. Horstmann, H.R. Widlund, J. Du, G. Motyckova, E.K. Nishimura, Y.L. Lin, S. Ramaswamy, W. Avery, H.F. Ding, S.A. Jordan, I.J. Jackson, S.J. Korsmeyer, T.R. Golub, D.E. Fisher, Cell 2002, 109, 707-718.
97. P. Roschger, K. Matsuo, B.M. Misof, W. Tesch, W. Jochum, E.F. Wagner, P. Fratzl, K. Klaushofer, Bone 2004, 34, 776-782.
98. A.L. Boskey, S. Gadaleta, C. Gundberg, S.B. Doty, P. Ducy, G. Karsenty, Bone 1998, 23, 187-196.
99. Y.Y. Kong, H. Yoshida, I. Sarosi, H.L. Tan, E. Timms, C. Capparelli, S. Morony, A.J. Oliveira-dos-Santos, G. Van, A. Itie, W. Khoo, A. Wakeham, C.R. Dunstan, D.L. Lacey, T.W. Mak, W.J. Boyle, J.M. Penninger, Nature 1999, 397, 315-323.
100. T. Yamashita, I. Sekiya, N. Kawaguchi, K. Kashimada, A. Nifuji, Y.I. Nabeshima, M. Noda, J. Endocrinol. 2001, 168, 347-351.
101. B. Dabovic, R. Levasseur, L. Zambuto, Y. Chen, G. Karsenty, D.B. Rifkin, Bone 2005, 37, 25-31.
102. R. Schenk, W.A. Merz, R. Muhlbauer, R.G. Russell, H. Fleisch, Calcif. Tissue Res. 1973, 11, 196-214.
103. N.P. Camacho, C.L. Raggio, S.B. Doty, L. Root, V. Zraick, W.A. Ilg, T.R. Toledano, A.L. Boskey, Calcif. Tissue Int. 2001, 69, 94-101.
104. M.P. Whyte, D. Wenkert, K.L. Clements, W.H. McAlister, S. Mumm, N. Engl. J. Med. 2003, 349, 457-463.
105. R. Michael McClain, E. Wolz, A. Davidovich, F. Pfannkuch, J.A. Edwards, J. Bausch, Food Chem. Toxicol. 2006, 44, 56-80.
106. M. Grynpas, Calcif. Tissue Int. 1993, Suppl. 1, S57-S64.
107. Q.Y. Huang, R.R. Recker, H.W. Deng, Osteoporos. Int. 2003, 14, 701-715.
108. R.F. Klein, J. Allard, Z. Avnur, T. Nikolcheva, D. Rotstein, A.S. Carlos, M. Shea, R.V. Waters, J.K. Belknap, G. Peltz, E.S. Orwoll, Science 2004, 303, 229-232.
109. Y. Yershov, T.H. Baldini, S. Villagomez, T. Young, M.L. Martin, R.S. Bockman, M.G. Peterson, R.D. Blank, J. Bone Miner. Res. 2001, 16, 992-1003.
110. M. Shimizu, K. Higuchi, S. Kasai, T. Tsuboyama, M. Matsushita, T. Matsumura, S. Okudaira, M. Mori, A. Koizumi, T. Nakamura, M. Hosokawa, Mamm. Genome 2002, 13, 335-340.
111. W. Gu, X. Li, K.H. Lau, B. Edderkaoui, L.R. Donahae, C.J. Rosen, W.G. Beamer, K.L. Shultz, A. Srivastava, S. Mohan, D.J. Baylink, Funct. Integr. Genomics 2002, 1, 375-386.
112. F.M. Williams, T.D. Spector, J. Musculoskelet. Neuronal Interact. 2006, 6, 27-35.
113. D.A. Glass, II, P. Bialek, J.D. Ahn, M. Starbuck, M.S. Patel, H. Clevers, M.M. Taketo, F. Long, A.P. McMahon, R.A. Lang, G. Karsenty, Dev. Cell 2005, 8, 751-764.
114. V. Krishnan, H.U. Bryant, O.A. Macdougald, J. Clin. Invest. 2006, 116, 1202-1209.
115. L. Van Wesenbeeck, E. Cleiren, J. Gram, R.K. Beals, O. Benichou, D. Scopelliti, L. Key, T. Renton, C. Bartels, Y. Gong, M.L. Warman, M.C. De Vernejoul, J. Bollerslev, W. Van Hul, Am. J. Hum. Genet. 2003, 72, 763-771.
116. M. Kato, M.S. Patel, R. Levasseur, I. Lobov, B.H. Chang, D.A. Glass, II, C. Hartmann, L. Li, T.H. Hwang, C.F. Brayton, R.A. Lang, G. Karsenty, L. Chan, J. Cell Biol. 2002, 157, 303-314.
117. S.L. Holmen, T.A. Giambernardi, C.R. Zylstra, B.D. Buckner-Berghuis, J.H. Resau, J.F. Hess, V. Glatt, M.L. Bouxsein, M. Ai, M.L. Warman, B.O. Williams, J. Bone Miner. Res. 2004, 19, 2033-2040.
118. J.B. van Meurs, F. Rivadeneira, M. Jhamai, W. Hugens, A. Hofman, J.P. van Leeuwen, H.A. Pols, U.A. Gitterlinden, J. Bone Miner. Res. 2006, 21, 141-150.
119. D. Rowe, A. Lichtler, Endocrine 2002, 17, 67-75.
120. C. Sobacchi, A. Frattini, P. Orchard, O. Porras, I. Tezcan, M. Andolina, R. Babul-Hirji, I. Baric, N. Canham, D. Chitayat, S. Dupuis-Girod, I. Ellis, A. Etzioni, A. Fasth, A. Fisher, B. Gerritsen, V. Gulino, E. Horwitz, V. Klamroth, E. Lanino, M. Mirolo, A. Musio, G. Matthijs, S. Nonomaya, L.D. Notarangelo, H.D. Ochs, A. Superti Furga, J. Valiaho, J.L. van Hove, M. Vihinen, D. Vujic, P. Vezzoni, A. Villa, Hum. Mol. Genet. 2001, 10, 1767-1777.
121. A. Frattini, P.J. Orchard, C. Sobacchi, S. Giliani, M. Abinun, J.P. Mattsson, D.J. Keeling, A.K. Andersson, P. Wallbrandt, L. Zecca, L.D. Notarangelo, P. Vezzoni, A. Villa, Nat. Genet. 2000, 25, 343-346.
122. Y.P. Li, W. Chen, Y. Liang, E. Li, P. Stashenko, Nat. Genet. 1999, 23, 447-451.
123. J.C. Scimeca, A. Franchi, C. Trojani, H. Parrinello, J. Grosgeorge, C. Robert, O. Jaillon, C. Poirier, P. Gaudray, G.F. Carle, Bone 2000, 26, 207-213.
124. K.U. Ogbureke, Q. Zhao, Y.P. Li, Front. Biosci. 2005, 10, 2940-2954.
125. A. Mocsai, M.B. Humphrey, J.A. Van Ziffle, Y. Hu, A. Burghardt, S.C. Spusta, S. Majumdar, L.L. Lanier, C.A. Lowell, M.C. Nakamura, Proc. Natl. Acad. Sci. USA 2004, 101, 6158-6163.
126. E. Van Hul, J. Gram, J. Bollerslev, L. Van Wesenbeeck, D. Mathysen, P.E. Andersen, F. Vanhoenacker, W. Van Hul, J. Bone Miner. Res. 2002, 17, 1111-1117.
127. S.L. Alatalo, K.K. Ivaska, S.G. Waguespack, M.J. Econs, H.K. Vaananen, J.M. Halleen, Clin. Chem. 2004, 50, 883-890.
128. P.F. Lange, L. Wartosch, T.J. Jentsch, J.C. Fuhrmann, Nature 2006, 440, 220-223.
129. U. Kornak, A. Ostertag, S. Branger, O. Benichou, M.C. de Vernejoul, J. Clin. Endocrinol. Metab. 2006, 91, 995-1000.
130. K.J. Borthwick, N. Kandemir, R. Topaloglu, U. Kornak, A. Bakkaloglu, N. Yordam, S. Ozen, H. Mocan, G.N. Shah, W.S. Sly, F.E. Karet, J. Med. Genet. 2003, 40, 115-121.
131. W. Wiktor-Jedrzejczak, A. Bartocci, A.W. Ferrante, Jr., A. Ahmed-Ansari, K.W. Sell, J.W. Pollard, E.R. Stanley, Proc. Natl. Acad. Sci. USA 1990, 87, 4828-4832.
132. G. Motyckova, D.E. Fisher, Curr. Mol. Med. 2002, 2, 407-421.
133. P. Saftig, E. Hunziker, O. Wehmeyer, S. Jones, A. Boyde, W. Rommerskirch, J.D. Moritz, P. Schu, K. von Figura, Proc. Natl. Acad. Sci. USA 1998, 95, 13453-13458.
134. K. Henriksen, M.G. Sorensen, R.H. Nielsen, J. Gram, S. Schaller, M.H. Dziegiel, V. Everts, J. Bollerslev, M.A. Karsdal, J. Bone Miner. Res. 2006, 21, 58-66.