成骨不全症中培养细胞的胶原蛋白代谢异常。
Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.
作者信息
Penttinen R P, Lichtenstein J R, Martin G R, McKusick V A
出版信息
Proc Natl Acad Sci U S A. 1975 Feb;72(2):586-9. doi: 10.1073/pnas.72.2.586.
Abstract
Cells obtained from normal human skin synthesize predominantly type I collogen in culture. Cells obtained from the skin of an infant with a severe form of osteogenesis imperfecta were found to synthesize as much type III as type I collagen. Decreased synthesis of type I collagen could explain the tissue fragility observed in this case.
摘要
从正常人类皮肤获取的细胞在培养时主要合成I型胶原蛋白。从一名患有严重成骨不全症的婴儿皮肤中获取的细胞被发现合成的III型胶原蛋白与I型胶原蛋白一样多。I型胶原蛋白合成减少可以解释该病例中观察到的组织脆弱性。
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1
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J Pediatr. 1952 Dec;41(6):713-9. doi: 10.1016/s0022-3476(52)80292-6.
2
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3
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4
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