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

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.

Human mutation - 1 Jun 2008

Gamundi María José, Hernan Imma, Muntanyola Marta, Maseras Miquel, López-Romero Pedro, Alvarez Rebeca, Dopazo Ana, Borrego Salud, Carballo Miguel

Abstract excerpt

Two types of mutations may lead to deficient pre-mRNA splicing: cis-acting mutations that inactivate a constitutive or alternative splice site within the pre-mRNA, and trans-acting mutations that affect the function of a basal factor of the splicing machinery. Autosomal dominant retinitis pigmentosa (adRP) is caused by mutations in at least 12 genes, with mutations in rhodopsin being the most prevalent. Two...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinitis Pigmentosa

Share to Rhodopsin

Share to Ribonucleoprotein, U4-U6 Small Nuclear

Share to RNA-Binding Proteins

Share to RNA Splicing

Source

Identifiers

PMID: 18412284
DOI: 10.1002/humu.20747

Genes

PRPF8
PRPF3
PRPF31
RHO

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

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.PMID 18412284Read ↗

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Alternative splicing and retinal degeneration.Semantic proximity Read ↗

Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and BeyondSemantic proximity Read ↗

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).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 ↗

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.Semantic proximity Read ↗

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.Semantic proximity Read ↗

A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.Semantic proximity Read ↗

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).Semantic proximity Read ↗

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.Semantic proximity Read ↗

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