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The Gordon Wilson lecture. Mutations in type I procollagen genes. An explanation for brittle bones and a paradigm for other diseases of connective tissue.

作者信息

Prockop D J

机构信息

Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.

出版信息

Trans Am Clin Climatol Assoc. 1989;100:70-80.

PMID:3269104
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2376450/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e9a/2376450/d9c6f4b1f079/tacca00088-0134-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e9a/2376450/48f8e8335a31/tacca00088-0132-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e9a/2376450/d9c6f4b1f079/tacca00088-0134-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e9a/2376450/48f8e8335a31/tacca00088-0132-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e9a/2376450/d9c6f4b1f079/tacca00088-0134-a.jpg

相似文献

1
The Gordon Wilson lecture. Mutations in type I procollagen genes. An explanation for brittle bones and a paradigm for other diseases of connective tissue.戈登·威尔逊讲座。I型前胶原基因的突变。对脆骨病的一种解释以及结缔组织其他疾病的范例。
Trans Am Clin Climatol Assoc. 1989;100:70-80.
2
Osteogenesis imperfecta. A model for genetic causes of osteoporosis and perhaps several other common diseases of connective tissue.成骨不全症。一种骨质疏松症以及可能其他几种常见结缔组织疾病遗传病因的模型。
Arthritis Rheum. 1988 Jan;31(1):1-8. doi: 10.1002/art.1780310101.
3
Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.I型前胶原：这个基因-蛋白质系统包含了大多数导致成骨不全以及可能更常见的遗传性结缔组织疾病的突变。
Am J Med Genet. 1989 Sep;34(1):60-7. doi: 10.1002/ajmg.1320340112.
4
Heritable defects in connective tissue.结缔组织的遗传性缺陷。
Hosp Pract (Off Ed). 1987 Feb 15;22(2):153-9, 162-8. doi: 10.1080/21548331.1987.11707680.
5
[Biochemical defects in hereditary diseases of the connective tissue (review)].[结缔组织遗传性疾病中的生化缺陷（综述）]
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6
Genetic disorders of connective tissues.结缔组织的遗传性疾病。
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Collagen genes and brittle bones.
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8
Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age-dependent phenotype of human osteogenesis imperfecta.表达I型前胶原（COL1A1）突变基因的转基因小鼠的骨脆性与人类成骨不全的年龄依赖性表型相似。
J Bone Miner Res. 1995 Dec;10(12):1837-43. doi: 10.1002/jbmr.5650101202.
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Learning how mutations in type I collagen genes cause connective tissue disease.了解I型胶原蛋白基因突变如何引发结缔组织疾病。
Int J Exp Pathol. 1993 Aug;74(4):319-23.
10
Osteogenesis imperfecta--a model for the analysis of inborn errors of connective tissue.成骨不全症——一种用于分析结缔组织先天性缺陷的模型。
Basic Life Sci. 1988;48:45-51. doi: 10.1007/978-1-4684-8712-1_6.

本文引用的文献

1
Osteogenesis imperfecta: an expanding panorama of variants.成骨不全症：不断扩展的变异全景。
Clin Orthop Relat Res. 1981 Sep(159):11-25.
2
Proteolytic enzymes as probes for the triple-helical conformation of procollagen.蛋白水解酶作为原胶原三螺旋构象的探针
Anal Biochem. 1981 Jan 15;110(2):360-8. doi: 10.1016/0003-2697(81)90204-9.
3
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.
4
Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution.人I型前胶原原α1链互补脱氧核糖核酸的核苷酸序列。对进化过程中保守结构的统计学评估。
Biochemistry. 1983 Oct 25;22(22):5213-23. doi: 10.1021/bi00291a023.
5
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.纯合子α2（I）胶原缺乏型成骨不全症的临床特征。
J Med Genet. 1984 Aug;21(4):257-62. doi: 10.1136/jmg.21.4.257.
6
Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.来自一名成骨不全患者的成纤维细胞对含有缩短的前α1（I）链的I型前胶原的合成与加工
J Biol Chem. 1983 May 10;258(9):5915-21.
7
Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.克隆人I型胶原α2前体链的cDNA。
Proc Natl Acad Sci U S A. 1981 Jun;78(6):3516-20. doi: 10.1073/pnas.78.6.3516.
8
A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.I型前胶原基因中的一个点突变将α1链的甘氨酸748转换为半胱氨酸，并使成骨不全致死变体中的三螺旋结构不稳定。
J Biol Chem. 1987 Oct 25;262(30):14737-44.
9
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.围生期致死性成骨不全（II型OI）：一种生化性质异质性疾病，通常由I型胶原蛋白基因的新发突变引起。
Am J Hum Genet. 1988 Feb;42(2):237-48.
10
A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.
J Biol Chem. 1988 Dec 15;263(35):19249-55.