Advances in osteogenesis imperfecta.

作者: William G. Cole

DOI: 10.1097/00003086-200208000-00003

关键词: Genetic enhancementBioinformaticsMedicineSomatic cellDiseaseMesenchymal stem cellOsteogenesis imperfectaStromal cellTransplantationType I collagen

摘要: Considerable progress has been made in many aspects of osteogenesis imperfecta. The international Sillence classification imperfecta is being expanded to include a greater range subgroups patients. Attempts are identify the genes causing forms and related syndromes that not caused by mutations Type I collagen genes. In medium-term studies, bisphosphonate treatment shown be first method improve clinical course disease significantly. Somatic cell therapy, using allogeneic bone marrow mesenchymal stromal transplantation, their early phases development for use humans with gene which aims inactivate mutation, evaluated laboratory animal studies.

参考文章(84)
L H Gerber, A Conway, H Binder, Rehabilitation approaches to children with osteogenesis imperfecta: a ten-year experience Archives of Physical Medicine and Rehabilitation. ,vol. 74, pp. 386- 390 ,(1993)
K. Suzuki, M. Oyama, L. Faulcon, P. D. Robbins, C. Niyibizi, In vivo expression of human growth hormone by genetically modified murine bone marrow stromal cells and its effect on the cells in vitro. Cell Transplantation. ,vol. 9, pp. 319- 327 ,(2000) , 10.1177/096368970000900303
B J Starman, P H Byers, D H Cohn, B Blumberg, Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). American Journal of Human Genetics. ,vol. 46, pp. 591- 601 ,(1990)
Reed E. Pyeritz, Malcolm K. Brenner, Edwin M. Horwitz, Darwin J. Prockop, Lorraine A. Fitzpatrick, Winston W. K. Koo, Patricia L. Gordon, Michael Neel, Michael Sussman, Paul Orchard, Jeffrey C. Marx, Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta Nature Medicine. ,vol. 5, pp. 309- 313 ,(1999) , 10.1038/6529
J F Bateman, D Chan, T Mascara, J G Rogers, W G Cole, Collagen defects in lethal perinatal osteogenesis imperfecta. Biochemical Journal. ,vol. 240, pp. 699- 708 ,(1986) , 10.1042/BJ2400699
W G Cole, D Chan, G W Chambers, I D Walker, J F Bateman, Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. Journal of Biological Chemistry. ,vol. 261, pp. 5496- 5503 ,(1986) , 10.1016/S0021-9258(19)57243-X
Marcia Willing, S. P. Deschenes, E. J. Roberts, S. H. Pitts, H. Arikat, R. L. Slayton, D. A. Scott, P. H. Byers, Osteogenesis imperfecta type I : molecular heterogeneity for COL1A1 null alleles of type I collagen American Journal of Human Genetics. ,vol. 55, pp. 638- 647 ,(1994)