Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 71-83 , March 2008

Sclerosing bone disorders

References 

  1. Whyte MP. Sclerosing bone disorders. In: Primers on the metabolic bone diseases and disorders of mineral metabolism. 6th edn.. Philadelphia: Lippincott-Raven; 2006;p. 398–414
  2. Maroteaux P, Lemerrer M. Maladies osseuses de l'enfant. 4th edn.. Paris: Medecine et sciences Flammarion; 2002;
  3. Frattini A, Orchard PJ, Sobacchi C, et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nature Genetics. 2000;25:343–346
  4. Kornak U, Kasper D, Bosl MR, et al. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell. 2001;104:205–215
  5. Frattini A, Pangrazio A, Susani L, et al. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. The Journal of Bone and Mineral Research. 2003;18:1740–1747
  6. Pangrazio A, Poliani PL, Megarbane A, et al. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. The Journal of Bone and Mineral Research. 2006;21:1098–1105
  7. Sobacchi C, Frattini A, Guerrini MM, et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nature Genetics. 2007;39:960–962
  8. Benichou OD, Laredo JD, de Vernejoul MC. Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. Bone. 2000;26:87–93
  9. Waguespack SG, Hui SL, Dimeglio LA, Econs MJ. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. Journal of Clinical Endocrinology and Metabolism. 2007;92:771–778
  10. Cleiren E, Benichou O, van Hul E, et al. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Human Molecular Genetics. 2001;10:2861–2867
  11. Maroteaux P, Lamy M. The malady of Toulouse-Lautrec. Journal of the American Medical Association. 1965;191:715–717
  12. Gelb BD, Shi GP, Chapman HA, Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science. 1996;273:1236–1238
  13. Sly WS, Whyte MP, Sundaram V, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. The New England Journal of Medicine. 1985;313:139–145
  14. Janssens K, Vanhoenacker F, Bonduelle M, et al. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. Journal of Medical Genetics. 2006;43:1–11
  15. Janssens K, Gershoni-Baruch R, Guanabens N, et al. Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease. Nature Genetics. 2000;26:273–275
  16. Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nature Genetics. 2004;36:1213–1218
  17. Krishnan V, Bryant HU, Macdougald OA. Regulation of bone mass by Wnt signaling. The Journal of Clinical Investigation. 2006;116:1202–1209
  18. Li X, Zhang Y, Kang H, et al. Sclerostin binds to LRP5/6 and antagonizes canonical Wnt signaling. Journal of Biological Chemistry. 2005;280:19883–19887
  19. Brunkow ME, Gardner JC, van Ness J, et al. Bone dysplasia sclerostenosis results from loss of the SOST gene product, a novel cystine knot-containing protein. American Journal of Human Genetics. 2001;68:577–589
  20. Loots GG, Kneissel M, Keller H, et al. Genomic deletion of a long-range bone enhancer misregulates sclerostin in van Buchem disease. Genome Research. 2005;15:928–935
  21. Boyden LM, Mao J, Belsky J, et al. High bone density due to a mutation in LDL-receptor-related protein 5. The New England Journal of Medicine. 2002;346:1513–1521
  22. Little RD, Carulli JP, Del Mastro RG, et al. A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. American Journal of Human Genetics. 2002;70:11–19
  23. Van Wesenbeeck L, Cleiren E, Gram J, et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. American Journal of Human Genetics. 2003;72:763–771
  24. Viot G, Lacombe D, David A, et al. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. American Journal of Medical Genetics. 2002;107:1–4
  25. Whyte MP, Fallon MD, Murphy WA, Teitelbaum SL. Axial osteomalacia: clinical, laboratory and genetic investigation of an affected mother and son. American Journal of Medicine. 1981;71:1041–1049
  26. Cortet B, Berniere L, Solau-Gervais E, et al. Axial osteomalacia with sacroiliitis and moderate phosphate diabetes: report of a case. Clinical and Experimental Rheumatology. 2000;18:625–628
  27. Lang R, Vignery AM, Jenson PS. Fibrogenesis imperfecta ossium with early onset: observations after 20 years of illness. Bone. 1986;7:237–246
  28. Rimoin DL. Pachydermoperiostosis (idiopathic clubbing and periostosis). Genetic and physiologic considerations. The New England Journal of Medicine. 1965;272:923–931

PII: S1521-6942(07)00144-1

doi: 10.1016/j.berh.2007.12.011

Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 71-83 , March 2008

Article Tools

* Image Usage & Resolution