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Osteogenesis imperfecta. A model for genetic causes of osteoporosis and perhaps several other common diseases of connective tissue.

作者信息

Prockop D J

机构信息

Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.

出版信息

Arthritis Rheum. 1988 Jan;31(1):1-8. doi: 10.1002/art.1780310101.

DOI:10.1002/art.1780310101
PMID:3345218
Abstract
摘要

相似文献

1
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.
2
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.
3
[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）]
Vopr Med Khim. 1986 Mar-Apr;32(2):2-14.
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.
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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.
6
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.
7
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.
8
[Gene errors as a cause of rare and common connective tissue diseases].[基因错误作为罕见和常见结缔组织疾病的一个病因]
Duodecim. 1994;110(7):731-9.
9
Collagen genes and brittle bones.
Ann Intern Med. 1983 Nov;99(5):700-4. doi: 10.7326/0003-4819-99-5-700.
10
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.

引用本文的文献

1
Collagen (I) homotrimer potentiates the osteogenesis imperfecta (oim) mutant allele and reduces survival in male mice.胶原（I）三聚体增强成骨不全症（oim）突变等位基因，并降低雄性小鼠的存活率。
Dis Model Mech. 2022 Sep 1;15(9). doi: 10.1242/dmm.049428. Epub 2022 Sep 28.
2
Genetic factors in osteoporosis. What are the implications for prevention and treatment?
Drugs Aging. 1997 Nov;11(5):333-7. doi: 10.2165/00002512-199711050-00001.
3
Reflex sympathetic dystrophy syndrome with microtrabecular fracture in a patient with osteogenesis imperfecta.
Clin Rheumatol. 1997 Jun;16(4):363-6. doi: 10.1007/BF02242452.
4
Genetics of osteoporosis.
Calcif Tissue Int. 1994 Sep;55(3):161-3. doi: 10.1007/BF00425868.
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Encephalopathy, deafness and blindness in young women: a distinct retinocochleocerebral arteriolopathy?年轻女性的脑病、耳聋和失明：一种独特的视网膜耳蜗脑小动脉病？
J Neurol Neurosurg Psychiatry. 1989 Aug;52(8):1020-1. doi: 10.1136/jnnp.52.8.1020-a.
6
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.一名患有绝经后骨质疏松症女性的I型前胶原基因（COL1A2）突变：与轻度成骨不全症表型和基因型重叠的证据
Proc Natl Acad Sci U S A. 1991 Jun 15;88(12):5423-7. doi: 10.1073/pnas.88.12.5423.
7
An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.一种骨质减少性非骨折综合征，具有轻度成骨不全的特征，与I型胶原蛋白α1（I）链三螺旋位置43处的半胱氨酸替代甘氨酸有关。
J Clin Invest. 1992 Feb;89(2):567-73. doi: 10.1172/JCI115622.