Cargando…

CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis

Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision loss. CTNND1 encodes a cellular adhesion protein p120-catenin (p120), which is essential for vascularization with unclear function in postnatal physiological angiogenesis. Here, we applied whole-exome sequenci...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yang, Mu, Li, Shujin, Huang, Li, Zhao, Rulian, Dai, Erkuan, Jiang, Xiaoyan, He, Yunqi, Lu, Jinglin, Peng, Li, Liu, Wenjing, Zhang, Zhaotian, Jiang, Dan, Zhang, Yi, Jiang, Zhilin, Yang, Yeming, Zhao, Peiquan, Zhu, Xianjun, Ding, Xiaoyan, Yang, Zhenglin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9431724/ https://www.ncbi.nlm.nih.gov/pubmed/35700046 http://dx.doi.org/10.1172/jci.insight.158428

Ejemplares similares

Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy
por: Li, Shujin, et al.
Publicado: (2022)

A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR
por: Peng, Li, et al.
Publicado: (2022)

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy
por: Fei, Ping, et al.
Publicado: (2015)

FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations
por: Lu, Jinglin, et al.
Publicado: (2022)

Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy
por: Huang, Li, et al.
Publicado: (2021)

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy
por: Xu, Yu, et al.
Publicado: (2014)

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease
por: Liu, Jingjing, et al.
Publicado: (2018)

Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy
por: Fei, Ping, et al.
Publicado: (2014)

Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations
por: Huang, Li, et al.
Publicado: (2023)

Mutation spectrum in a cohort with familial exudative vitreoretinopathy
por: Qu, Ning, et al.
Publicado: (2022)

INTRAVITREAL RANIBIZUMAB TREATMENT FOR ADVANCED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH HIGH VASCULAR ACTIVITY
por: Lyu, Jiao, et al.
Publicado: (2021)

Familial Exudative Vitreoretinopathy
por: Sızmaz, Selçuk, et al.
Publicado: (2015)

Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
por: Li, Jia-Kai, et al.
Publicado: (2016)

Dry-Lensectomy Assisted Lensectomy in the Management for End-Stage Familial Exudative Vitreoretinopathy Complicated With Anterior Segment Abnormalities
por: Peng, Jie, et al.
Publicado: (2022)

Novel mutations in FZD4 and phenotype–genotype correlation in Chinese patients with familial exudative vitreoretinopathy
por: Tang, Miao, et al.
Publicado: (2016)

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)

Identification of a novel mutation in KIF11 with functional analysis in a cohort of 516 familial patients with exudative vitreoretinopathy
por: Wang, Kezhou, et al.
Publicado: (2021)

Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy
por: Wang, You, et al.
Publicado: (2023)

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy
por: Tao, Tianchang, et al.
Publicado: (2021)

Asymmetric presentations of familial exudative vitreoretinopathy
por: Natung, Tanie, et al.
Publicado: (2013)

Deletion of Asrgl1 Leads to Photoreceptor Degeneration in Mice
por: Zhou, Yu, et al.
Publicado: (2022)

Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes
por: Yang, Huiqin, et al.
Publicado: (2011)

Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells
por: Yang, Yeming, et al.
Publicado: (2018)

Five novel copy number variations detected in patients with familial exudative vitreoretinopathy
por: Luo, Jia, et al.
Publicado: (2021)

An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis
por: Xu, Ningda, et al.
Publicado: (2023)

Refractive Status and Biometric Characteristics of Children With Familial Exudative Vitreoretinopathy
por: Hu, Yarou, et al.
Publicado: (2023)

Familial exudative vitreoretinopathy presentation as persistent fetal vasculature
por: Kartchner, Jeffrey Z., et al.
Publicado: (2017)

Posterior keratoconus in a patient with familial exudative vitreoretinopathy
por: Agarwal, Pulak, et al.
Publicado: (2020)

Familial exudative vitreoretinopathy associated with retinal astrocytic hamartoma
por: Fan, Jason, et al.
Publicado: (2022)

Unilateral Familial Exudative Vitreoretinopathy: Clinical Profile and Pathology
por: Boal, Nina S., et al.
Publicado: (2021)

Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy
por: Mao, Jianbo, et al.
Publicado: (2022)

Genetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy
por: Tao, Xueying, et al.
Publicado: (2023)

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
por: Yang, Huiqin, et al.
Publicado: (2012)

Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy
por: Alsulaiman, Alwaleed M., et al.
Publicado: (2020)

Commentary: Familial exudative vitreoretinopathy-The masquerade in pediatric retinal disorders
por: Sen, Parveen, et al.
Publicado: (2022)

Familial exudative vitreoretinopathy complicated with macular hole retinal detachment
por: Singh, Priyanka, et al.
Publicado: (2023)

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy
por: Jia, Li-Yun, et al.
Publicado: (2021)

Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy
por: Lin, Ying, et al.
Publicado: (2018)

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy
por: Shurygina, Maria F., et al.
Publicado: (2020)

Quantitative Analysis of Vascular Abnormalities in Full-Term Infants With Mild Familial Exudative Vitreoretinopathy
por: Li, Peng, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_820jsj1licsubd3shl67jf2i44