Heterozygote loss‐of‐function variants in the<i>LRP5</i>gene cause familial exudative vitreoretinopathy-Reference-Cited by-全球学者库

Heterozygote loss‐of‐function variants in theLRP5gene cause familial exudative vitreoretinopathy

Published:2022-02-07 Issue:4 Volume:50 Page:441-448
ISSN:1442-6404
Container-title:Clinical & Experimental Ophthalmology
language:en
Short-container-title:Clinical Exper Ophthalmology

Author:

Zhao Rulian¹²,Wang Shiyuan³,Zhao Peiquan³,Dai Erkuan³,Zhang Xiang³,Peng Li¹²⁴^ORCID,He Yunqi¹²⁴,Yang Mu¹²⁴^ORCID,Li Shujin¹²⁴^ORCID,Yang Zhenglin¹²⁴

Affiliation:

1. Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital University of Electronic Science and Technology of China Chengdu Sichuan China

2. Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026) Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital Chengdu Sichuan China

3. Ophthalmology Shanghai Jiaotong University School of Medicine Xinhua Hospital Shanghai China

4. Natural Products Research Center, Institute of Chengdu Biology, Sichuan Translational Medicine Hospital Chinese Academy of Sciences Chengdu Sichuan China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Ophthalmology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ceo.14037

Reference39 articles.

1. Familial Exudative Vitreoretinopathy

2. Wnt Signaling: Multiple Pathways, Multiple Receptors, and Multiple Transcription Factors

3. Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

4. Clinical Presentation of Familial Exudative Vitreoretinopathy

5. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

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1. Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy;Experimental Eye Research;2023-09

2. A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy;Clinical Genetics;2022-12-13

3. Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy;Genes & Diseases;2022-10

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