Associated Papers
Candidate Interaction Partners of Calpain-5 Suggest Clues to Its Involvement in Neovascular Inflammatory Vitreoretinopathy.
Gal J et al.
Cells, 2026
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
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
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808694 (PubMed )
Supplement: media-2.xlsx › Patient_3
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
Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.
Velez G et al.
Iscience, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
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
Capn5 Expression in the Healthy and Regenerating Zebrafish Retina.
Coomer CE et al.
Investigative Ophthalmology & Visual Science, 2018
Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole-exome sequencing.
Zamò A et al.
Leukemia, 2018
28824170 (PubMed )
Supplement: 41375_2018_BFleu2017270_MOESM101_ESM.xlsx › S_Table_3b
Select a paper to view details