Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.R289W
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CAPN5

NM_004055.5:p.R289W

Associated Papers

Candidate Interaction Partners of Calpain-5 Suggest Clues to Its Involvement in Neovascular Inflammatory Vitreoretinopathy.

Gal J et al.

Cells, 2026

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.

Maccora I et al.

Ocular Immunology and Inflammation, 2024

Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature.

Tabbaa T et al.

Ophthalmic Genetics, 2023

Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series.

Xia FJ et al.

Ocular Immunology and Inflammation, 2023

Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.

Geddes JW et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023

Long-Term Outcomes and Risk Factors for Severe Vision Loss in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV).

Boyce TM et al.

American Journal of Ophthalmology, 2022

Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.

Li AS et al.

American Journal of Ophthalmology, 2021

Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.

Velez G et al.

Iscience, 2020

Phenotypic variance in Calpain-5 retinal degeneration.

Tang PH et al.

American Journal of Ophthalmology Case Reports, 2020

Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.

Velez G et al.

Cell Reports, 2020

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Wert KJ et al.

Human Mutation, 2019

Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case.

O'Keefe G et al.

Ocular Immunology and Inflammation, 2019

Capn5 Expression in the Healthy and Regenerating Zebrafish Retina.

Coomer CE et al.

Investigative Ophthalmology & Visual Science, 2018

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

Velez G et al.

Cold Spring Harbor Molecular Case Studies, 2018

Photoreceptor Cell-Derived CAPN5 Regulates Retinal Pigment Epithelium Cell Proliferation Through Direct Regulation of SLIT2 Cleavage.

Wang Y et al.

Investigative Ophthalmology & Visual Science, 2018

Inherited retinal disease-associated uveitis.

Hung JH et al.

Survey of Ophthalmology, 0

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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."