Associated Papers
Candidate Interaction Partners of Calpain-5 Suggest Clues to Its Involvement in Neovascular Inflammatory Vitreoretinopathy.
Gal J et al.
Cells, 2026
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
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon.
Jaffal L et al.
Frontiers in Genetics, 2022
35651951 (PubMed )
Supplement: Table1.XLSX › I6.1
Phenotypic variance in Calpain-5 retinal degeneration.
Tang PH et al.
American Journal of Ophthalmology Case Reports, 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
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
Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.
Takahashi K et al.
Human Genome Variation, 2018
30302266 (PubMed )
Supplement: 41439_2018_28_MOESM5_ESM.xlsx › Sheet1
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