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1
Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract.了解先天性白内障的分子遗传学可能对年龄相关性白内障具有更广泛的意义。
Br J Ophthalmol. 2004 Jan;88(1):2-3. doi: 10.1136/bjo.88.1.2.
2
Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation.CRYBB2假基因的非特异性PCR扩增导致将自然变异误解为突变。
Invest Ophthalmol Vis Sci. 2012 Aug 22;53(9):5770. doi: 10.1167/iovs.12-10575.
3
Author response: Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation.
Invest Ophthalmol Vis Sci. 2012 Sep 25;53(10):6666. doi: 10.1167/iovs.12-10751.
4
Genetics of Congenital Cataract.先天性白内障的遗传学
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5
Biology of Inherited Cataracts and Opportunities for Treatment.遗传性白内障的生物学及治疗机会。
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Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.家族性白内障中晶状体蛋白基因的研究及两个疾病相关突变的报告。
Br J Ophthalmol. 2004 Jan;88(1):79-83. doi: 10.1136/bjo.88.1.79.
7
[The genetics of hereditary cataract].[遗传性白内障的遗传学]
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8
[Research progress in relative crystallin genes of congenital cataract].[先天性白内障相关晶状体蛋白基因的研究进展]
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A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.CRYAA基因中的一个无义突变(W9X)在一个近亲通婚的犹太波斯家庭中导致了常染色体隐性白内障。
Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3511-5.

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Through the Gateway: A Brief History of Cataract Genetics.穿越门户:白内障遗传学简史。
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2
Potential of GJA8 gene variants in predicting age-related cataract: A comparison of supervised machine learning methods.GJA8 基因变异在预测年龄相关性白内障中的潜力:监督机器学习方法的比较。
PLoS One. 2023 Aug 31;18(8):e0286243. doi: 10.1371/journal.pone.0286243. eCollection 2023.
3
Oxysterol Compounds in Mouse Mutant αA- and αB-Crystallin Lenses Can Improve the Optical Properties of the Lens.鼠突变型 αA-和 αB-晶体蛋白晶状体中的氧化固醇化合物可改善晶状体的光学性质。
Invest Ophthalmol Vis Sci. 2022 May 2;63(5):15. doi: 10.1167/iovs.63.5.15.
4
Alpha-crystallin mutations alter lens metabolites in mouse models of human cataracts.α-晶状体蛋白突变改变了人白内障小鼠模型中的晶状体代谢物。
PLoS One. 2020 Aug 24;15(8):e0238081. doi: 10.1371/journal.pone.0238081. eCollection 2020.
5
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.一个显性遗传先天性白内障家族中新型p.(Ser270Tyr) MAF突变和p.(Tyr56∗) CRYGD变异的分离。
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The effect of GSTT1, GSTM1 and GSTP1 gene polymorphisms on the susceptibility of age-related cataract in Chinese Han population.谷胱甘肽S-转移酶T1(GSTT1)、谷胱甘肽S-转移酶M1(GSTM1)和谷胱甘肽S-转移酶P1(GSTP1)基因多态性对中国汉族人群年龄相关性白内障易感性的影响。
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7
The Polymorphisms with Cataract Susceptibility Impair the EPHA2 Receptor Stability and Its Cytoprotective Function.具有白内障易感性的多态性损害了EPHA2受体稳定性及其细胞保护功能。
J Ophthalmol. 2015;2015:401894. doi: 10.1155/2015/401894. Epub 2015 Nov 19.
8
Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts.遗传性白内障α-晶体蛋白突变体敲入小鼠模型中的自噬与未折叠蛋白反应
Biochim Biophys Acta. 2016 Jan;1860(1 Pt B):234-9. doi: 10.1016/j.bbagen.2015.06.001. Epub 2015 Jun 11.
9
Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.白内障的电子病历与基因组学(eMERGE)网络探索:若干新的潜在易感基因座
Mol Vis. 2014 Sep 19;20:1281-95. eCollection 2014.
10
Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.一种新型GJA8(Cx50)点突变的鉴定导致人类显性先天性白内障。
Sci Rep. 2014 Feb 18;4:4121. doi: 10.1038/srep04121.

本文引用的文献

1
Crystallin genes: specialization by changes in gene regulation may precede gene duplication.晶状体蛋白基因:基因调控变化导致的特化可能先于基因复制。
J Struct Funct Genomics. 2003;3(1-4):131-7.
2
Crystallins, genes and cataract.晶状体蛋白、基因与白内障。
Prog Drug Res. 2003;60:205-62. doi: 10.1007/978-3-0348-8012-1_7.
3
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.发现人类表型背后的基因型:孟德尔疾病的既往成功案例,复杂疾病的未来研究方法
Nat Genet. 2003 Mar;33 Suppl:228-37. doi: 10.1038/ng1090.
4
Alpha-crystallin.α-晶状体蛋白
Exp Eye Res. 2003 Feb;76(2):145-53. doi: 10.1016/s0014-4835(02)00278-6.
5
A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.与常染色体显性白内障相关的CRYBB1基因中的无义突变,该白内障与人类22号染色体相关联。
Am J Hum Genet. 2002 Nov;71(5):1216-21. doi: 10.1086/344212. Epub 2002 Oct 1.
6
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.热休克转录因子4(HSF4)的突变DNA结合结构域与常染色体显性板层状及马纳尔白内障相关。
Nat Genet. 2002 Jul;31(3):276-8. doi: 10.1038/ng921. Epub 2002 Jun 24.
7
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.在一个近亲结婚的伊拉克犹太家庭中,LIM2基因的一个错义突变与常染色体隐性遗传的早老性白内障相关。
Am J Hum Genet. 2002 May;70(5):1363-7. doi: 10.1086/340318. Epub 2002 Mar 26.
8
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.一个患有板层粉状白内障的俄罗斯家族中连接蛋白50基因(GJA8)的突变。
Clin Genet. 2001 Dec;60(6):476-8. doi: 10.1034/j.1399-0004.2001.600614.x.
9
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.与白内障、眼前节发育异常和缺损相关的bZIP转录因子MAF的结构域破坏和突变。
Hum Mol Genet. 2002 Jan 1;11(1):33-42. doi: 10.1093/hmg/11.1.33.
10
A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.一种独特的常染色体显性白内障形式,由β-晶状体蛋白B2与其假基因之间的基因转换所解释。
J Med Genet. 2001 Jun;38(6):392-6. doi: 10.1136/jmg.38.6.392.

Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract.

作者信息

Moore A T

出版信息

Br J Ophthalmol. 2004 Jan;88(1):2-3. doi: 10.1136/bjo.88.1.2.

DOI:10.1136/bjo.88.1.2
PMID:14693758
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1771955/
Abstract
摘要