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

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.

European journal of ophthalmology - 1 Nov 2022

Peng Yujiao, Zhao Rulian, Dai Erkuan, Peng Li, He Yunqi, Li Shujin, Yang Mu

Abstract excerpt

PURPOSE: To investigate causative variants in three Chinese families affected with familial exudative vitreoretinopathy (FEVR). METHODS: Three unrelated Chinese families were recruited in this study. The three probands and their family members experienced a comprehensive age-appropriate eye examination and genetic analysis. Luciferase assay was performed to evaluate impacts of variants on Norrin/β-catenin...

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 Exome Sequencing
Share to Eye Diseases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Eye Proteins

Share to Familial Exudative Vitreoretinopathies

Share to Nerve Tissue Proteins

Share to Retinal Diseases

Source

Identifiers

PMID: 35037517
DOI: 10.1177/11206721221074209

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.PMID 35037517Read ↗

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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

Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.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 ↗

Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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

Novel Norrie disease gene mutations in Chinese 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 ↗

Identification of LRP5 mutations in families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

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

Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.Semantic proximity Read ↗

A Novel Mutation in the NDP Gene is Associated with Familial Exudative Vitreoretinopathy in a Southern Chinese Family.Semantic proximity Read ↗

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