Literature DB >> 31770519

Molecular genetics of congenital cataracts.

Jinyu Li1, Xiangjun Chen1, Yongbin Yan2, Ke Yao3.   

Abstract

Congenital cataracts, the most common cause of visual impairment and blindness in children worldwide, have diverse etiologies. According to statistics analysis, about one quarter of congenital cataracts caused by genetic defects. Various mutations of more than one hundred genes have been identified in hereditary cataracts so far. In this review, we briefly summarize recent developments about the genetics, molecular mechanisms, and treatments of congenital cataracts. The studies of these pathogenic mutations and molecular genetics is making it possible for us to comprehend the underlying mechanisms of cataractogenesis and providing new insights into the preventive, diagnostic and therapeutic approaches of cataracts.
Copyright © 2019 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Cataractogenesis; Congenital cataracts; Genetics; Inherited cataracts; Molecular mechanisms

Mesh:

Year:  2019        PMID: 31770519     DOI: 10.1016/j.exer.2019.107872

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN: 0014-4835            Impact factor:   3.467


  16 in total

1.  Observation of Visual Quality after Femtosecond Laser-Assisted Cataract Surgery Combined with Trifocal Intraocular Lens Implantation.

Authors:  Jianli Ma; Xuequan Sun; Yang Liu; Yumei Liu
Journal:  Comput Math Methods Med       Date:  2022-07-01       Impact factor: 2.809

2.  Novel mutation of GJA8 in autosomal dominant congenital cataracts.

Authors:  Ning Ding; Zhengyu Chen; Xudong Song; Xiaoyan Tang
Journal:  Ann Transl Med       Date:  2020-09

3.  Clinical and genetic findings in patients with congenital cataract and heart diseases.

Authors:  Xinru Li; Nuo Si; Zixun Song; Yaqiong Ren; Wei Xiao
Journal:  Orphanet J Rare Dis       Date:  2021-05-31       Impact factor: 4.123

4.  EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.

Authors:  Philippa Harding; Maria Toms; Elena Schiff; Nicholas Owen; Suzannah Bell; Ian Christopher Lloyd; Mariya Moosajee
Journal:  Int J Mol Sci       Date:  2021-02-22       Impact factor: 5.923

5.  Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.

Authors:  Yinhui Yu; Yue Qiao; Yang Ye; Jinyu Li; Ke Yao
Journal:  Mol Genet Genomic Med       Date:  2021-02-17       Impact factor: 2.183

6.  Cataract-causing allele in CRYAA (Y118D) proceeds through endoplasmic reticulum stress in mouse model.

Authors:  Zhe-Kun Jia; Chen-Xi Fu; Ai-Ling Wang; Ke Yao; Xiang-Jun Chen
Journal:  Zool Res       Date:  2021-05-18

7.  First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.

Authors:  Julia V Stingl; Stefan Diederich; Heidi Diel; Alexander K Schuster; Felix M Wagner; Panagiotis Chronopoulos; Fidan Aghayeva; Franz Grehn; Jennifer Winter; Susann Schweiger; Esther M Hoffmann
Journal:  J Clin Med       Date:  2021-12-21       Impact factor: 4.241

8.  Disruption of PIKFYVE causes congenital cataract in human and zebrafish.

Authors:  Shaoyi Mei; Yi Wu; Yan Wang; Yubo Cui; Miao Zhang; Tong Zhang; Xiaosheng Huang; Sejie Yu; Tao Yu; Jun Zhao
Journal:  Elife       Date:  2022-01-13       Impact factor: 8.140

9.  FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract.

Authors:  Gabriela Rudd Garces; Matthias Christen; Robert Loechel; Vidhya Jagannathan; Tosso Leeb
Journal:  Genes (Basel)       Date:  2022-02-11       Impact factor: 4.096

10.  Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Authors:  Olivia A Zin; Luiza M Neves; Fabiana L Motta; Dafne D G Horovitz; Leticia Guida; Leonardo H F Gomes; Daniela P Cunha; Ana Paula S Rodrigues; Andrea A Zin; Juliana M F Sallum; Zilton F M Vasconcelos
Journal:  Genes (Basel)       Date:  2021-07-13       Impact factor: 4.096

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