Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
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ABSTRACT:
SUBMITTER: Barnes AM
PROVIDER: S-EPMC3156560 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Publications
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding.
Barnes Aileen M AM Carter Erin M EM Cabral Wayne A WA Weis MaryAnn M Chang Weizhong W Makareeva Elena E Leikin Sergey S Rotimi Charles N CN Eyre David R DR Raggio Cathleen L CL Marini Joan C JC
The New England journal of medicine 20100120 6
Osteogenesis imperfecta is a heritable disorder that causes bone fragility. Mutations in type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two components of the collagen prolyl 3-hydroxylation complex (cartilage-associated protein [CRTAP] and prolyl 3-hydroxylase 1 [P3H1]) cause autosomal recessive osteogenesis imperfecta with rhizomelia (shortening of proximal segments of upper and lower limbs) and delayed collagen folding. We identified two si ...[more]
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