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

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

PLoS genetics - 1 Jan 2012

Venturini Giulia, Rose Anna M, Shah Amna Z, Bhattacharya Shomi S, Rivolta Carlo

Abstract excerpt

Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptomatic carriers are protected from the disease by a higher than average expression of the PRPF31...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Gene Expression Regulation
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Penetrance

Share to Promoter Regions, Genetic

Share to Retinitis Pigmentosa

Share to RNA, Small Interfering

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 23144630
DOI: 10.1371/journal.pgen.1003040
PMCID: PMC3493449

Genes

PRPF31
CNOT3

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

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.PMID 23144630Read ↗

Determinants of Disease Penetrance in PRPF31-Associated RetinopathySemantic proximity Read ↗

Gene of the month: PRPF31.Semantic proximity Read ↗

Expression of PRPF31 and TFPT: regulation in health and retinal disease.Semantic proximity Read ↗

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".Semantic proximity Read ↗

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.Semantic proximity Read ↗

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.Semantic proximity Read ↗

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.Semantic proximity Read ↗

Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Semantic proximity Read ↗

PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.Semantic proximity Read ↗

A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression.Semantic proximity Read ↗

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Semantic proximity Read ↗

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