Article

USH2A gene mutations in rabbits lead to progressive retinal degeneration and hearing loss

2022-01-25

Abstract excerpt

Mutations in USH2A gene are responsible for the greatest proportion of hearing and vision loss among individuals with Usher Syndrome (USH) and for autosomal recessive non-syndromic retinitis pigmentosa. Mutations on USH2A exon 13 account for more than 35% of the disease causing USH2A variants including the most prevalence point mutation, c.2299delG, a frameshift mutation. The lack of a clinically relevant animal m...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1c91e493-ed08-51b8-a910-0b9cc6a91767
DOI: 10.1101/2022.01.24.476758

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

USH2A gene mutations in rabbits lead to progressive retinal degeneration and hearing lossDOI 10.1101/2022.01.24.476758Read

USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss.Semantic proximity Read

Pathogenesis and Treatment of Usher Syndrome Type IIA.Semantic proximity Read

Usherin defects lead to early-onset retinal dysfunction in zebrafish.Semantic proximity Read

The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.Semantic proximity Read

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.Semantic proximity Read

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.Semantic proximity Read

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.Semantic proximity Read

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.Semantic proximity Read

USH2A-retinopathy: From genetics to therapeutics.Semantic proximity Read

Modeling Retinitis Pigmentosa: Retinal Organoids Generated From the iPSCs of a Patient With the USH2A Mutation Show Early Developmental AbnormalitiesSemantic proximity Read

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.Semantic proximity Read

Potential therapy for progressive vision loss due to <i>PCDH15</i> -associated Usher Syndrome developed in an orthologous Usher mouseSemantic proximity Read