Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.R243L
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CAPN5

NM_004055.5:p.R243L

Associated Papers

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

Gal J et al.

Cells, 2026

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

Ultrawidefield Fluorescein Angiography and OCT Findings in Children and Young Adults with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy.

Ebert JJ et al.

Ophthalmology. Retina, 2024

Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy.

Choi YJ et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2023

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

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

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

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

Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.

Randazzo NM et al.

Ocular Immunology and Inflammation, 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

Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.

Gakhar L et al.

Journal of Structural Biology, 2016

CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.

Wert KJ et al.

Human Molecular Genetics, 2015

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.

Bassuk AG et al.

Plos One, 2015

CAPN5 gene silencing by short hairpin RNA interference.

Nelson NG et al.

Bmc Research Notes, 2014

Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.

Wert KJ et al.

Human Molecular Genetics, 2014

Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.

Mahajan VB et al.

Clinical Ophthalmology (auckland, N.z.), 2013

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Mahajan VB et al.

Plos Genetics, 2012

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.

Rowell HA et al.

Clinical Ophthalmology (auckland, N.z.), 2012

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."