Cargando…
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by incomplete vascularization/abnormality of peripheral retina. Four of the identified disease-causing genes of FEVR were NDP, FZD4, LRP5, and TSPAN12, the protein coded by which were the components of the Norr...
Autores principales: | Xiao, Hongtao, Tong, Yuna, Zhu, Yuxuan, Peng, Min |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885210/ https://www.ncbi.nlm.nih.gov/pubmed/31827910 http://dx.doi.org/10.1155/2019/5782536 |
Ejemplares similares
-
Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy
por: Tian, Tian, et al.
Publicado: (2019) -
Mutation spectrum in a cohort with familial exudative vitreoretinopathy
por: Qu, Ning, et al.
Publicado: (2022) -
Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy
por: Tao, Tianchang, et al.
Publicado: (2021) -
Familial Exudative Vitreoretinopathy
por: Sızmaz, Selçuk, et al.
Publicado: (2015) -
Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy
por: Mao, Jianbo, et al.
Publicado: (2022)