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

Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.

American journal of human genetics - 4 Feb 2021

Patrizi Clarissa, Llado Manel, Benati Daniela, Iodice Carolina, Marrocco Elena, Guarascio Rosellina, Surace Enrico M, Cheetham Michael E, Auricchio Alberto, Recchia Alessandra

Abstract excerpt

Retinitis pigmentosa (RP) is a group of progressive retinal degenerations of mostly monogenic inheritance, which cause blindness in about 1:3,500 individuals worldwide. Heterozygous variants in the rhodopsin (RHO) gene are the most common cause of autosomal dominant RP (adRP). Among these, missense variants at C-terminal proline 347, such as p.Pro347Ser, cause severe adRP recurrently in European affected...

Read the complete abstract on PubMed

Topics

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

Share to Dependovirus
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Editing

Share to INDEL Mutation

Share to Photoreceptor Cells, Vertebrate

Share to Retina

Share to Retinitis Pigmentosa

Share to Rhodopsin

Source

Open in PubMed Open full text

Identifiers

PMID: 33508235
DOI: 10.1016/j.ajhg.2021.01.006
PMCID: PMC7896132

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.PMID 33508235Read ↗

CRISPR/SaCas9-based gene editing rescues photoreceptor degeneration throughout a rhodopsin-associated autosomal dominant retinitis pigmentosa mouse model.Semantic proximity Read ↗

Allele-specific CRISPR/Cas9 genome editing of the single-base P23H mutation for rhodopsin associated dominant retinitis pigmentosaSemantic proximity Read ↗

In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa.Semantic proximity Read ↗

Knockout and Replacement Gene Surgery to Treat Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.Semantic proximity Read ↗

In vivo photoreceptor base editing ameliorates rhodopsin-E150K autosomal-recessive retinitis pigmentosa in mice.Semantic proximity Read ↗

Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery.Semantic proximity Read ↗

Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.Semantic proximity Read ↗

Allele-specific gene-editing approach for vision loss restoration in RHO-associated retinitis pigmentosa.Semantic proximity Read ↗

Allele-specific gene editing approach for vision loss restoration in <i>RHO</i> -associated Retinitis PigmentosaSemantic proximity Read ↗

CRISPR genome surgery in a novel humanized model for autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Generation of human P347L RHO-associated retinitis pigmentosa iPSC lines by a mutation insertion in the RHODOPSIN gene carrying the RHO c.1040C > T variant using CRISPR/Cas9.Semantic proximity Read ↗

Generation of nonhuman primate retinitis pigmentosa model by <i>in situ</i> knockout of <i>RHO</i> in rhesus macaque retinaSemantic proximity Read ↗

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