Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts-Reference-Cited by-同舟云学术

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Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts

Published:2017-08-28 Issue:6 Volume:44 Page:435-440
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Dudakova Lubica,Stranecky Viktor,Ulmanova Olga,Hlavova Eva,Trková Marie,Vincent Andrea L.,Liskova Petra

Funder

Charles University institutional programs

Ministerstvo Zdravotnictví Ceské Republiky

Ministerstvo školství, mládeže a tělovýchovy ČR

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/article/10.1007/s11033-017-4121-4/fulltext.html

Reference30 articles.

1. Lambert SR, Drack AV (1996) Infantile cataracts. Surv Ophthalmol 40:427–458

2. Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT (2004) Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 49:300–315. doi: 10.1016/j.survophthal.2004.02.013

3. Moore AT (2004) Understanding the moleculas genetics of congenital cataract may have wider implications for age related cataract. Br J Ophthalmol 88:2–3

4. Shiels A, Bennett TM, Hejtmancik JF (2010) MolVis 16:2007–2015

5. Ma AS, Grigg JR, Ho G et al (2016) Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing. Hum Mutat 37:371–384. doi: 10.1002/humu.22948

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1. A Case of Non-Syndromic Congenital Cataracts Caused by a Novel MAF Variant in the C-Terminal DNA-Binding Domain—Case Report and Literature Review;Genes;2024-05-25

2. Case report: Whole exome sequencing identified a novel mutation (p.Y301H) of MAF in a Chinese family with congenital cataracts;Frontiers in Medicine;2024-02-29

3. Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway;Molecular Genetics and Genomics;2023-01-31

4. Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology;Cells;2022-11-06

5. Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families;American Journal of Medical Genetics Part A;2022-08-11

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