Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.Y347*
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PDE6B

NM_000283.4:p.Y347*

Associated Papers

CRISPR as a therapeutic tool for inherited retinal degenerations: Advances, challenges, and future directions.

Galdikaite-Braziene E et al.

Molecular Aspects of Medicine, 2026

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

Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina.

Mathur PD et al.

Scientific Reports, 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

A kind of rd1 mouse in C57BL/6J mice from crossing with a mutated Kunming mouse.

Yan W et al.

Gene, 2017

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

The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.

Luhmann UF et al.

Human Molecular Genetics, 2015

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."