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Not too long, not too short: Goldilocks principle of eye size.

作者信息

Kuchtey Rachel W

机构信息

Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.

Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America.

出版信息

PLoS Genet. 2020 Jul 15;16(7):e1008914. doi: 10.1371/journal.pgen.1008914. eCollection 2020 Jul.

DOI:10.1371/journal.pgen.1008914
PMID:32667907
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7363070/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f16/7363070/3a0ac8f8c355/pgen.1008914.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f16/7363070/3a0ac8f8c355/pgen.1008914.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f16/7363070/3a0ac8f8c355/pgen.1008914.g001.jpg

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本文引用的文献

1
The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.纳米眼蛋白 TMEM98 抑制 MYRF 自我切割，是眼睛大小特化所必需的。
PLoS Genet. 2020 Apr 1;16(4):e1008583. doi: 10.1371/journal.pgen.1008583. eCollection 2020 Apr.
2
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.人类小眼畸形基因 TMEM98 的错义突变导致小鼠视网膜缺陷。
Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2875-2887. doi: 10.1167/iovs.18-25954.
3
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
MYRF 部分单体型不足相关表型谱的综述
Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8.
4
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.髓鞘调节因子 (MYRF) 的变异导致人类常染色体显性遗传和综合征性小眼球症，并导致小鼠的视网膜变性。
PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. eCollection 2019 May.
5
Interactive Repression of MYRF Self-Cleavage and Activity in Oligodendrocyte Differentiation by TMEM98 Protein.TMEM98 蛋白对少突胶质细胞分化中 MYRF 自我切割和活性的交互抑制。
J Neurosci. 2018 Nov 14;38(46):9829-9839. doi: 10.1523/JNEUROSCI.0154-18.2018. Epub 2018 Sep 24.
6
Nanophthalmos: A Review of the Clinical Spectrum and Genetics.小眼球症：临床谱系与遗传学综述
J Ophthalmol. 2018 May 9;2018:2735465. doi: 10.1155/2018/2735465. eCollection 2018.
7
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.全基因组关联荟萃分析强调光诱导信号作为导致屈光不正的驱动因素。
Nat Genet. 2018 Jun;50(6):834-848. doi: 10.1038/s41588-018-0127-7. Epub 2018 May 28.
8
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis.全球失明和远距离视力损伤原因 1990-2020：系统回顾和荟萃分析。
Lancet Glob Health. 2017 Dec;5(12):e1221-e1234. doi: 10.1016/S2214-109X(17)30393-5. Epub 2017 Oct 11.
9
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.常染色体显性小眼球家族中的新型跨膜蛋白98（TMEM98）突变。
Mol Vis. 2015 Sep 1;21:1017-23. eCollection 2015.
10
Does the association between TMEM98 and nanophthalmos require further confirmation?TMEM98与小眼球症之间的关联是否需要进一步证实？
JAMA Ophthalmol. 2015 Mar;133(3):358-9. doi: 10.1001/jamaophthalmol.2014.4915.