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

Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.

Molecular vision - 1 Jan 2013

Kondo Hiroyuki, Kusaka Shunji, Yoshinaga Aki, Uchio Eiichi, Tawara Akihiko, Tahira Tomoko

Abstract excerpt

PURPOSE: Retinopathy of prematurity (ROP) is a complex disease with a genetic predisposition, but little is known about its genetic background. It has a clinical resemblance to familial exudative vitreoretinopathy (FEVR), a hereditary disease characterized by defects in the development of retinal vessels. Several studies have suggested that mutations in the causative genes for FEVR may account for a proportion of...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Frizzled Receptors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Low Density Lipoprotein Receptor-Related Protein-5

Share to Mutation, Missense

Share to Retinopathy of Prematurity

Share to Sequence Homology, Amino Acid

Share to Tetraspanins

Source

Open in PubMed Open full text

Identifiers

PMID: 23441120
PMCID: PMC3580992

Genes

FZD4
LRP5
NDP
TSPAN12

Variants

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.PMID 23441120Read ↗

Clinical characteristics and mutation spectrum in 33 Chinese families 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 ↗

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

Severe retinopathy of prematurity associated with FZD4 mutations.Semantic proximity Read ↗

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

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

Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.Semantic proximity Read ↗

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

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR).Semantic proximity Read ↗

Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

Analysis of NDP gene mutations and clinical features in FEVR patientsSemantic proximity Read ↗

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