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

Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy.

Ophthalmic genetics - 1 Aug 2018

Alfano Giovanna, Waseem Naushin H, Webster Andrew R, Bhattacharya Shomi S

Abstract excerpt

OBJECTIVE: This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration. METHODS: A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using ExoSAP-IT. Direct sequencing of PCR products was performed using BigDye 3.1 on the ABI 3730 DNA Analyzer and analyzed...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Homeodomain Proteins

Share to Mutagenesis, Site-Directed

Share to Pedigree

Share to Plasmids

Share to Visual Acuity

Source

Identifiers

PMID: 29947570
DOI: 10.1080/13816810.2018.1484927

Genes

VAX2
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy.PMID 29947570Read ↗

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.Semantic proximity Read ↗

H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.Semantic proximity Read ↗

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.Semantic proximity Read ↗

X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone OpsinsSemantic proximity Read ↗

Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.Semantic proximity Read ↗

VSX2 mutations in autosomal recessive microphthalmia.Semantic proximity Read ↗

Identification, genomic structure, and screening of the vacuolar proton-ATPase membrane sector-associated protein M8-9 gene within the COD1 critical region (Xp11.4).Semantic proximity Read ↗

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.Semantic proximity Read ↗

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.Semantic proximity Read ↗

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).Semantic proximity Read ↗

Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.Semantic proximity Read ↗

A novel VSX1 mutation identified in an individual with keratoconus in India.Semantic proximity Read ↗

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