Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.Y347*
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PDE6B

NM_000283.4:p.Y347*

Associated Papers

In vivo prime editing rescues photoreceptor degeneration in nonsense mutant retinitis pigmentosa.

Fu Y et al.

Nature Communications, 2025

A Penetrable AAV2 Capsid Variant for Efficient Intravitreal Gene Delivery to the Retina.

He X et al.

Investigative Ophthalmology & Visual Science, 2025

Establishment and visual analysis of CBA/J-Pde6bY347Y/Y347X and C3H/HeJ-Pde6bY347Y/Y347X mice.

Shindo M et al.

Experimental Animals, 2024

Does Background Matter? A Comparative Characterization of Mouse Models of Autosomal Retinitis Pigmentosa rd1 and Pde6b-KO.

Chirinskaite AV et al.

International Journal of Molecular Sciences, 2023

Identification and Characterization of Retinitis Pigmentosa in a Novel Mouse Model Caused by PDE6B-T592I.

Xia CH et al.

Biomedicines, 2023

Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.

Bennett TM et al.

G3 (bethesda, Md.), 2023

Toward the Treatment of Inherited Diseases of the Retina Using CRISPR-Based Gene Editing.

Hernández-Juárez J et al.

Frontiers in Medicine, 2021

Targeting the photoreceptor cilium for the treatment of retinal diseases.

Ran J et al.

Acta Pharmacologica Sinica, 2020

A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy.

Winkler PA et al.

Veterinary Ophthalmology, 2020

Gene editing prospects for treating inherited retinal diseases.

Benati D et al.

Journal of Medical Genetics, 2020

In vivo genome editing rescues photoreceptor degeneration via a Cas9/RecA-mediated homology-directed repair pathway.

Cai Y et al.

Science Advances, 2019

Pde6brd1 mutation modifies cataractogenesis in Foxe3rct mice.

Wada K et al.

Biochemical and Biophysical Research Communications, 2018

Retinal degeneration mutation in Sftpa1tm1Kor/J and Sftpd -/- targeted mice.

Bhatti F et al.

Plos One, 2018

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa.

Wu WH et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2016

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

Neuillé M et al.

Plos One, 2014

[Cause of retinitis pigmentosa and new therapeutics under development].

Sakamoto K et al.

Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2011

Single-stranded oligonucleotide-mediated in vivo gene repair in the rd1 retina.

Andrieu-Soler C et al.

Molecular Vision, 2007

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

Gal A et al.

Nature Genetics, 1994

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

McLaughlin ME et al.

Nature Genetics, 1993

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."