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Understanding the genetic architecture of human retinal degenerations.

作者信息

Hejtmancik J Fielding, Daiger Stephen P

机构信息

Molecular Ophthalmic Genetics Section, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Rockville, MD 20852;

Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030.

出版信息

Proc Natl Acad Sci U S A. 2020 Feb 25;117(8):3904-3906. doi: 10.1073/pnas.1922925117. Epub 2020 Feb 7.

DOI:10.1073/pnas.1922925117
PMID:32034100
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7049104/
Abstract
摘要

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Understanding the genetic architecture of human retinal degenerations.了解人类视网膜变性的遗传结构。
Proc Natl Acad Sci U S A. 2020 Feb 25;117(8):3904-3906. doi: 10.1073/pnas.1922925117. Epub 2020 Feb 7.
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3
[Cavity structures in the peripheral retina].
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4
[Clinical contribution to the study of microcystic heredo-degenerations of the retina. Vitreo-retinal degenerations].
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Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.核受体NR2E3基因突变会扭曲人类视网膜的层状结构，并导致一种特殊的退化。
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[ON THE IMPORTANCE OF THE ELECTRORETINOGRAPHIC IMAGE IN CENTRAL TAPETO-RETINAL DEGENERATIONS].
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本文引用的文献

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Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.全球常染色体隐性遗传性视网膜疾病的携带者频率和遗传流行率。
Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2710-2716. doi: 10.1073/pnas.1913179117. Epub 2020 Jan 21.
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Gene Therapy in Retinal Dystrophies.基因治疗视网膜营养不良。
Int J Mol Sci. 2019 Nov 14;20(22):5722. doi: 10.3390/ijms20225722.
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Deciphering retinal diseases through the generation of three dimensional stem cell-derived organoids: Concise Review.通过生成三维干细胞衍生类器官来破译视网膜疾病：简要综述。
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.通过全基因组测序进行综合罕见变异分析以确定遗传性视网膜疾病的分子病理学
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The molecular basis of human retinal and vitreoretinal diseases.人类视网膜和眼后段疾病的分子基础。
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Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.增强型S锥体综合征、戈德曼-法夫尔综合征以及许多聚集性色素性视网膜变性病例中NR2E3存在共同突变。
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Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion.通过利用遗传漂变产生的连锁不平衡来定位基因：在没有人口统计学扩张的小群体中进行“漂变定位”。
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