Varaico: Literature-Extracted Genetic Variants

Gene:PDE6B
Variant:p.H620Q
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PDE6B

NM_000283.4:p.H620Q

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

Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2025

40900079 (PubMed )
Supplement: iovs-66-12-5_s001.pdf

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa.

Vainionpää K et al.

Febs Letters, 2025

CD44 signaling in Müller cells impacts photoreceptor function and survival in healthy and diseased retinas.

Ayten M et al.

Journal of Neuroinflammation, 2024

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.

Hashem SA et al.

American Journal of Ophthalmology, 2024

Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy.

Costa BLD et al.

Cell & Bioscience, 2024

Mechanism of Cone Degeneration in Retinitis Pigmentosa.

Song DJ et al.

Cellular and Molecular Neurobiology, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

Rod Photoreceptor-Specific Ablation of Metformin Target, AMPK, in a Preclinical Model of Autosomal Recessive Retinitis Pigmentosa.

Nolan ND et al.

Advances in Experimental Medicine and Biology, 2023

Drug Discovery Strategies for Inherited Retinal Degenerations.

Das A et al.

Biology, 2022

Late-stage rescue of visually guided behavior in the context of a significantly remodeled retinitis pigmentosa mouse model.

Kajtna J et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Rapamycin Improved Retinal Function and Morphology in a Mouse Model of Retinal Degeneration.

Zhao M et al.

Frontiers in Neuroscience, 2022

Gene-agnostic therapeutic approaches for inherited retinal degenerations.

John MC et al.

Frontiers in Molecular Neuroscience, 2022

New focus on regulation of the rod photoreceptor phosphodiesterase.

Gulati S et al.

Current Opinion in Structural Biology, 2021

Inhibition of mTOR signaling by rapamycin protects photoreceptors from degeneration in rd1 mice.

Yang JL et al.

Zoological Research, 2021

Limited time window for retinal gene therapy in a preclinical model of ciliopathy.

Datta P et al.

Human Molecular Genetics, 2020

Genetic Rescue Reverses Microglial Activation in Preclinical Models of Retinitis Pigmentosa.

Zhang L et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2018

Do cGMP Levels Drive the Speed of Photoreceptor Degeneration?

Iribarne M et al.

Advances in Experimental Medicine and Biology, 2018

Halting progressive neurodegeneration in advanced retinitis pigmentosa.

Koch SF et al.

The Journal of Clinical Investigation, 2015

Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.

Kuniyoshi K et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2015

Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H/HeOu and FVB/N rd1 mice.

van Wyk M et al.

Molecular Vision, 2015

Therapeutic margins in a novel preclinical model of retinitis pigmentosa.

Davis RJ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa.

Wert KJ et al.

Human Molecular Genetics, 2013

Lentivirus-mediated expression of cDNA and shRNA slows degeneration in retinitis pigmentosa.

Tosi J et al.

Experimental Biology and Medicine (maywood, N.j.), 2011

Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).

Davis RJ et al.

Investigative Ophthalmology & Visual Science, 2008

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