一种先天性白内障的新型致病突变及其潜在发病机制。 - Suppr

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A novel causative mutation for congenital cataract and its underlying pathogenesis.

作者信息

Xiu Yanghui, Fan Yuanrong, Wu Kangni, Chen Shuimiao, Pan Meihua, Xu Xun, Zhu Yihua

机构信息

a Eye Institute & Xiamen eye Center , Affiliated Xiamen University , Xiamen , Fujian , China.

b Department of Ophthalmology , The First Affiliated Hospital of Fujian Medical University , Fuzhou , Fujian , China.

出版信息

Ophthalmic Genet. 2019 Feb;40(1):66-68. doi: 10.1080/13816810.2018.1558262. Epub 2018 Dec 26.

DOI:10.1080/13816810.2018.1558262

PMID:30585525

Abstract

摘要

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A novel causative mutation for congenital cataract and its underlying pathogenesis.

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引用本文的文献

Novel gene mutation causes autosomal-dominant congenital cataract.

Int J Ophthalmol. 2024 Mar 18;17(3):454-465. doi: 10.18240/ijo.2024.03.06. eCollection 2024.

The relationship between major intrinsic protein genes and cataract.

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A novel causative mutation for congenital cataract and its underlying pathogenesis.

作者信息

Xiu Yanghui, Fan Yuanrong, Wu Kangni, Chen Shuimiao, Pan Meihua, Xu Xun, Zhu Yihua

机构信息

a Eye Institute & Xiamen eye Center , Affiliated Xiamen University , Xiamen , Fujian , China.

b Department of Ophthalmology , The First Affiliated Hospital of Fujian Medical University , Fuzhou , Fujian , China.

出版信息

Ophthalmic Genet. 2019 Feb;40(1):66-68. doi: 10.1080/13816810.2018.1558262. Epub 2018 Dec 26.

DOI:10.1080/13816810.2018.1558262

PMID:30585525

Abstract

摘要

相似文献

A novel causative mutation for congenital cataract and its underlying pathogenesis.

Ophthalmic Genet. 2019 Feb;40(1):66-68. doi: 10.1080/13816810.2018.1558262. Epub 2018 Dec 26.

A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing.

Ophthalmic Genet. 2018 Jan-Feb;39(1):139-140. doi: 10.1080/13816810.2017.1342133. Epub 2017 Aug 24.

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.

Eye (Lond). 2018 Aug;32(8):1359-1364. doi: 10.1038/s41433-018-0084-5. Epub 2018 Apr 26.

Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.

Sci Rep. 2017 Jan 6;7:40129. doi: 10.1038/srep40129.

Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataracts.

Handb Exp Pharmacol. 2009(190):265-97. doi: 10.1007/978-3-540-79885-9_14.

[A novel missense mutation in MIP gene resulted in polymorphic cataract].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):6-10.

The genetic and molecular basis of congenital cataract.

Arq Bras Oftalmol. 2011 Mar-Apr;74(2):136-42. doi: 10.1590/s0004-27492011000200016.

A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.

Exp Anim. 2017 Aug 5;66(3):271-282. doi: 10.1538/expanim.17-0012. Epub 2017 Apr 24.

Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).

Br J Ophthalmol. 2000 Dec;84(12):1376-9. doi: 10.1136/bjo.84.12.1376.

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

J Med Genet. 2003 Nov;40(11):e124. doi: 10.1136/jmg.40.11.e124.

引用本文的文献

Novel gene mutation causes autosomal-dominant congenital cataract.

Int J Ophthalmol. 2024 Mar 18;17(3):454-465. doi: 10.18240/ijo.2024.03.06. eCollection 2024.

The relationship between major intrinsic protein genes and cataract.

Int Ophthalmol. 2021 Jan;41(1):375-387. doi: 10.1007/s10792-020-01583-2. Epub 2020 Sep 12.