Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.

Clinical genetics - 1 Mar 2023

Zhao Rulian, Dai Erkuan, Wang Shiyuan, Zhang Xiang, He Yunqi, Peng Li, Zhao Peiquan, Yang Zhenglin, Yang Mu, Li Shujin

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder; however, the known FEVR-associated variants account for approximately only 50% cases. Currently, the pathogenesis of most reported variants is not well studied, we aim to identify novel variants from FEVR-associated genes and perform a comprehensive functional analysis to uncover the pathogenesis of variants that cause FEVR. Using...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to beta Catenin
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Familial Exudative Vitreoretinopathies

Share to Frizzled Receptors

Share to Nerve Tissue Proteins

Share to Retinal Diseases

Share to Tetraspanins

Source

Identifiers

PMID: 36453149
DOI: 10.1111/cge.14273

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.PMID 36453149Read ↗

Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.Semantic proximity Read ↗

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.Semantic proximity Read ↗

Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway.Semantic proximity Read ↗

Mutation spectrum in a cohort with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.Semantic proximity Read ↗

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).Semantic proximity Read ↗

Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Ocular Features and Mutation Spectrum of Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.