The genetics of cataract: our vision becomes clearer.
作者信息
Hejtmancik J F
出版信息
Am J Hum Genet. 1998 Mar;62(3):520-5. doi: 10.1086/301774.
Abstract
摘要
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The genetics of cataract: our vision becomes clearer.白内障的遗传学：我们的视野愈发清晰。
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本文引用的文献
1
PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS.先天性白内障基因座与达菲血型基因座之间可能存在的连锁关系。
Ann Hum Genet. 1963 Aug;27:67-84. doi: 10.1111/j.1469-1809.1963.tb00782.x.
2
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.人类连接蛋白50基因（GJA8）中的一个错义突变是常染色体显性“带状粉状”白内障的基础，该基因位于1号染色体长臂。
Am J Hum Genet. 1998 Mar;62(3):526-32. doi: 10.1086/301762.
3
Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice.α3连接蛋白基因的破坏导致小鼠体内蛋白质水解和白内障形成。
Cell. 1997 Dec 12;91(6):833-43. doi: 10.1016/s0092-8674(00)80471-7.
4
A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.位于13号染色体上的显性“小带粉状”白内障新基因座。
Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468.
5
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.常染色体显性蓝色白内障与人β-晶体蛋白基因CRYBB2中的链终止突变相关。
Hum Mol Genet. 1997 May;6(5):665-8. doi: 10.1093/hmg/6.5.665.
6
Transgenic mice carrying chimeric or mutated type III intermediate filament (IF) genes.携带嵌合型或突变型III型中间丝（IF）基因的转基因小鼠。
Cell Mol Life Sci. 1997 Jan;53(1):1-12. doi: 10.1007/pl00000571.
7
AIM1, a novel non-lens member of the betagamma-crystallin superfamily, is associated with the control of tumorigenicity in human malignant melanoma.AIM1是βγ-晶状体蛋白超家族的一个新的非晶状体成员，与人类恶性黑色素瘤的致瘤性控制有关。
Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3229-34. doi: 10.1073/pnas.94.7.3229.
8
Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin.对小鼠αA-晶状体蛋白基因进行靶向破坏会诱发白内障以及含有小分子热休克蛋白αB-晶状体蛋白的细胞质包涵体。
Proc Natl Acad Sci U S A. 1997 Feb 4;94(3):884-9. doi: 10.1073/pnas.94.3.884.
9
Cysteine protease activated by expression of HIV-1 protease in transgenic mice. MIP26 (aquaporin-0) cleavage and cataract formation in vivo and ex vivo.
J Biol Chem. 1996 Dec 13;271(50):31803-6. doi: 10.1074/jbc.271.50.31803.
10
A locus for autosomal dominant anterior polar cataract on chromosome 17p.17号染色体短臂上常染色体显性前极性白内障的一个基因座。
Hum Mol Genet. 1996 Mar;5(3):415-9. doi: 10.1093/hmg/5.3.415.
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