家族性骨关节炎的遗传学方面 - Suppr

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超能文献

Genetic aspects of familial osteoarthritis.

作者信息

Jimenez S A, Dharmavaram R M

机构信息

Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.

出版信息

Ann Rheum Dis. 1994 Dec;53(12):789-97. doi: 10.1136/ard.53.12.789.

DOI:10.1136/ard.53.12.789

PMID:7864685

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1005472/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6829/1005472/5207f62d200d/annrheumd00500-0009-a.jpg

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本文引用的文献

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY.遗传性进行性关节-眼病

Mayo Clin Proc. 1965 Jun;40:433-55.

GENETIC FACTORS IN GENERALIZED OSTEO-ARTHROSIS.全身性骨关节炎的遗传因素

Ann Rheum Dis. 1963 Jul;22(4):237-55. doi: 10.1136/ard.22.4.237.

Calcium pyrophosphate dihydrate crystal deposition in synovium. Relationship to collagen fibers and chondrometaplasia.

Arthritis Rheum. 1993 May;36(5):704-15. doi: 10.1002/art.1780360520.

A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.II型胶原蛋白三螺旋氨基末端的突变导致严重的骨软骨发育不良。

Genomics. 1993 Apr;16(1):282-5. doi: 10.1006/geno.1993.1179.

Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.

Arthritis Rheum. 1993 Mar;36(3):401-9. doi: 10.1002/art.1780360317.

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.导致斯-利二氏综合征（关节-眼病）的II型胶原蛋白基因（COL2AI）中的第二个突变也是一个提前终止密码子。

Am J Hum Genet. 1993 Jan;52(1):39-45.

Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.一名脊椎骨骺发育不良患者α1（II）型胶原链中精氨酸789突变为半胱氨酸的特征分析。

J Biol Chem. 1993 Jul 15;268(20):15238-45.

The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.单链构象多态性分析检测单碱基替换的灵敏度。

Genomics. 1993 May;16(2):325-32. doi: 10.1006/geno.1993.1193.

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).一个家族中因II型前胶原基因（COL2A1）发生精氨酸75突变为半胱氨酸而导致脊椎骨骺发育不良和早发性骨关节炎。

Hum Genet. 1993 Nov;92(5):499-505. doi: 10.1007/BF00216458.

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.X型胶原蛋白突变导致施密德干骺端软骨发育不良。

Nat Genet. 1993 Sep;5(1):79-82. doi: 10.1038/ng0993-79.

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