Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy-Reference-Cited by-同舟云学术

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Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy

Published:2015-11-04 Issue:1 Volume:5 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Fei Ping,Zhu Xiong,Jiang Zhilin,Ma Shi,Li Jing,Zhang Qi,Zhou Yu,Xu Yu,Tai Zhengfu,Zhang Lin,Huang Lulin,Yang Zhenglin,Zhao Peiquan,Zhu Xianjun

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep16120.pdf

Reference27 articles.

1. Criswick, V. G. & Schepens, C. L. Familial exudative vitreoretinopathy. Am J Ophthalmol 68, 578–94 (1969).

2. van Nouhuys, C. E. Signs . complications and platelet aggregation in familial exudative vitreoretinopathy. Am J Ophthalmol 111, 34–41 (1991).

3. Robitaille, J. et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 32, 326–30 (2002).

4. Toomes, C. et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 74, 721–30 (2004).

5. Nikopoulos, K. et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 86, 240–7 (2010).

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity;Frontiers in Medicine;2022-10-24

2. A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR;Molecular Genetics & Genomic Medicine;2022-04-13

3. Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy;BMC Medical Genomics;2022-03-11

4. Blood-Retinal Barrier Development and Potential for Regeneration in Blinding Eye Disease;Tight Junctions;2022

5. An induced pluripotent stem cell line (EHTJUi002-A) derived from a neonate with c.678G>A mutation in the gene FZD4 causing exudative vitreoretinopathy;Stem Cell Research;2020-10

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