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 functional analysis of the vision-specific BBS3 (ARL6) long isoform.

PLoS genetics - 19 Mar 2010

Pretorius Pamela R, Baye Lisa M, Nishimura Darryl Y, Searby Charles C, Bugge Kevin, Yang Baoli, Mullins Robert F, Stone Edwin M, Sheffield Val C, Slusarski Diane C

Abstract excerpt

Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3 (ARL6), which includes an additional exon. This transcript, BBS3L, is evolutionally conserved and is expressed predominantly in the eye, suggesting a specialized role in vision. Using antisense oligonucleotide knockdown in zebrafish, we previously demonstrated that...

Read the complete abstract on PubMed

Topics

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

Share to ADP-Ribosylation Factors
Share to Bardet-Biedl Syndrome

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

Share to Ganglia

Share to Oligonucleotides, Antisense

Share to Photoreceptor Cells, Vertebrate

Share to Reflex, Startle

Share to Rod Opsins

Share to Vision, Ocular

Source

Open in PubMed Open full text

Identifiers

PMID: 20333246
DOI: 10.1371/journal.pgen.1000884
PMCID: PMC2841623

Genes

ARL6

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

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.PMID 20333246Read ↗

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.Semantic proximity Read ↗

Exome capture sequencing identifies a novel mutation in BBS4.Semantic proximity Read ↗

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).Semantic proximity Read ↗

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.Semantic proximity Read ↗

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid compositionSemantic proximity Read ↗

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid compositionSemantic proximity Read ↗

Mutations in <i>BBS2</i> Cause Apparent Nonsyndromic Retinitis PigmentosaSemantic proximity Read ↗

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Semantic proximity Read ↗

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.Semantic proximity Read ↗

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.Semantic proximity Read ↗

Knockout of <i>Bbs10</i> results in lack of cone electrical function and progressive retinal degeneration of rods and conesSemantic proximity Read ↗

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.Semantic proximity Read ↗

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