Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.
作者信息
Prockop D J
出版信息
Am J Hum Genet. 1984 May;36(3):499-505.
Abstract
摘要
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Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.成骨不全症：表型异质性、蛋白质自杀、短链和长链胶原蛋白。
Am J Hum Genet. 1984 May;36(3):499-505.
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Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.COL1A2基因剪接位点突变的纯合性会产生无功能的前α2（I）链和埃勒斯-当洛综合征/成骨不全临床表型。
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Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.I 型胶原的螺旋突变会影响前肽的加工，从而导致成骨不全症/埃勒斯-当洛斯综合征重叠综合征。
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Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.α1（I）胶原蛋白氨基末端附近的突变通过干扰N-前肽加工导致成骨不全/埃勒斯-当洛综合征合并症。
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ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.内质网应激介导的成骨不全新小鼠模型中的细胞凋亡
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SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.SSCP检测到原α1（I）胶原链中Gly565Val替代导致II型成骨不全。
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Osteogenesis imperfecta type IIA: evidence for dominant inheritance.IIA型成骨不全症：显性遗传的证据。
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Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.严重非致死型成骨不全症中的I型前胶原。一名蛋白聚糖代谢异常且真皮中有矿物质沉积的患者的α1（I）前胶原链存在缺陷。
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Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.II型软骨发育不全-低软骨发育不全：异常II型胶原蛋白的鉴定。
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Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.与前α2（I）型胶原蛋白基因相关的突变是导致几例I型成骨不全症的原因。
J Med Genet. 1986 Oct;23(5):411-6. doi: 10.1136/jmg.23.5.411.
本文引用的文献
1
Isolation and characterization of genomic DNA coding for alpha 2 type I collagen.编码α2 I型胶原蛋白的基因组DNA的分离与特性分析。
Nucleic Acids Res. 1980 Apr 25;8(8):1823-37. doi: 10.1093/nar/8.8.1823.
2
Osteogenesis imperfecta: promising beginnings and continuing challenges.
Coll Relat Res. 1981 Feb;1(2):227-34. doi: 10.1016/s0174-173x(81)80022-2.
3
Marfan syndrome: abnormal alpha 2 chain in type I collagen.马凡综合征：I型胶原蛋白中的α2链异常。
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9. doi: 10.1073/pnas.78.12.7745.
4
Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.以成骨不全症形式存在的结构异常的I型前胶原分泌减少。
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5142-6. doi: 10.1073/pnas.78.8.5142.
5
A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.一名患有成骨不全症患者的I型前胶原结构缺陷：羧基末端前肽中存在过量甘露糖。
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6179-83. doi: 10.1073/pnas.77.10.6179.
6
7
Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.一名患有某种成骨不全症患者的I型胶原蛋白中α2链异常。
J Clin Invest. 1983 Mar;71(3):689-97. doi: 10.1172/jci110815.
8
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.一名患有VII型埃勒斯-当洛综合征患者的I型前胶原结构突变的证据。
J Biol Chem. 1980 Sep 25;255(18):8887-93.
9
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Human type I procollagen genes are located on different chromosomes.人类I型前胶原基因位于不同的染色体上。
Proc Natl Acad Sci U S A. 1982 Nov;79(21):6627-30. doi: 10.1073/pnas.79.21.6627.
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