Collagen genes and inherited connective tissue disease.
作者信息
Cheah K S
出版信息
Biochem J. 1985 Jul 15;229(2):287-303. doi: 10.1042/bj2290287.
Abstract
摘要
相似文献
1
Collagen genes and inherited connective tissue disease.胶原蛋白基因与遗传性结缔组织疾病
Biochem J. 1985 Jul 15;229(2):287-303. doi: 10.1042/bj2290287.
2
[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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3
Heritable defects in connective tissue.结缔组织的遗传性缺陷。
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4
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.
5
[Molecular studies of collagen genes].[胶原蛋白基因的分子研究]
Genetika. 1983;19(1):5-16.
6
7
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.遗传性关节眼病（斯蒂克勒综合征）与II型前胶原基因的遗传连锁分析
Am J Hum Genet. 1989 Nov;45(5):681-8.
8
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.
9
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen.斯蒂克勒综合征与II型胶原蛋白的结构基因COL2A1密切相关。
Pathol Immunopathol Res. 1988;7(1-2):104-6. doi: 10.1159/000157103.
10
Genetic disorders of connective tissues.结缔组织的遗传性疾病。
Curr Opin Rheumatol. 1991 Oct;3(5):832-7. doi: 10.1097/00002281-199110000-00014.
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Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.成骨不全症（OI）患者中的两种新型COL1A1突变影响I型胶原三螺旋的稳定性。
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Discrimination among multiple AATAAA sequences correlates with interspecies conservation of select 3' untranslated nucleotides.多个AATAAA序列之间的差异与特定3'非翻译核苷酸的种间保守性相关。
Nucleic Acids Res. 1986 Jun 11;14(11):4499-517. doi: 10.1093/nar/14.11.4499.
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Localization of types I, II, and III collagen mRNAs in developing human skeletal tissues by in situ hybridization.通过原位杂交对发育中的人类骨骼组织中I型、II型和III型胶原蛋白mRNA进行定位。
J Cell Biol. 1987 Apr;104(4):1077-84. doi: 10.1083/jcb.104.4.1077.
8
Partial characterization of a low molecular weight human collagen that undergoes alternative splicing.一种经历可变剪接的低分子量人胶原蛋白的部分特性分析。
Proc Natl Acad Sci U S A. 1987 Feb;84(4):940-4. doi: 10.1073/pnas.84.4.940.
9
Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation.人I型前胶原α2（I）链前体全长cDNA克隆的结构。与鸡基因的比较证实了基因保守性的异常模式。
Biochem J. 1988 Jun 15;252(3):633-40. doi: 10.1042/bj2520633.
10
Cardiac anomalies in Williams-Beuren syndrome.威廉姆斯-贝伦综合征中的心脏异常。
Arch Dis Child. 1988 Jul;63(7):809-13. doi: 10.1136/adc.63.7.809.
本文引用的文献
1
Bibliography of cloned human and other selected DNAs.克隆人类及其他特定DNA的文献目录。
Am J Hum Genet. 1984 Jan;36(1):235-51.
2
Identification of a new disulphide bonded collagen from cartilage.从软骨中鉴定出一种新的二硫键连接的胶原蛋白。
FEBS Lett. 1980 Nov 17;121(1):51-4. doi: 10.1016/0014-5793(80)81265-8.
3
The collagen gene: evidence for its evolutinary assembly by amplification of a DNA segment containing an exon of 54 bp.胶原蛋白基因：通过扩增一个包含54个碱基对外显子的DNA片段对其进化组装的证据。
Cell. 1980 Dec;22(3):887-92. doi: 10.1016/0092-8674(80)90565-6.
4
Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis.对一名患有IV型埃勒斯-当洛综合征患者的成纤维细胞进行的生化和免疫学研究。结果表明III型胶原蛋白合成减少。
Arch Dermatol Res. 1980;269(2):169-77. doi: 10.1007/BF00406537.
5
Structural organization of a 17 KB segment of the alpha 2 collagen gene: evaluation by R loop mapping.α2胶原蛋白基因17千碱基片段的结构组织：通过R环作图进行评估。
Nucleic Acids Res. 1980 May 24;8(10):2241-53. doi: 10.1093/nar/8.10.2241.
6
Osteogenesis imperfecta (lethal) bones contain types III and V collagens.致死性成骨不全症的骨骼含有III型和V型胶原蛋白。
J Clin Pathol. 1980 Jun;33(6):534-8. doi: 10.1136/jcp.33.6.534.
7
A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function.一种新型的埃勒斯-当洛综合征。纤连蛋白可纠正血小板功能缺陷。
JAMA. 1980 Jul 11;244(2):144-7.
8
Formation of the triple helix of type I procollagen in cellulo. A kinetic model based on cis-trans isomerization of peptide bonds.细胞内I型前胶原三螺旋的形成。基于肽键顺反异构化的动力学模型。
Eur J Biochem. 1981 Sep 1;118(3):607-13. doi: 10.1111/j.1432-1033.1981.tb05562.x.
9
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.
10
Collagen evolution.胶原蛋白的进化
Nature. 1981 Jun 11;291(5815):450. doi: 10.1038/291450a0.
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