ArticleCold Spring Harbor molecular case studies2018
A novel de novo
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Article in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
–field-weighted citation impact
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- The Identification of Proteolytic Substrates of Calpain-5 with N-Terminomics.International journal of molecular sciences · 2025Article
- Treatment and Visual Outcomes in Pediatric Patients with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy: A Cohort Study.Ocular immunology and inflammation · 2024Article
- Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.American journal of medical genetics. Part A · 2023Article
- Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.Biochimica et biophysica acta. Molecular basis of disease · 2023Article
- Calpains as mechanistic drivers and therapeutic targets for ocular disease.Trends in molecular medicine · 2022Review
- Long-Term Outcomes and Risk Factors for Severe Vision Loss in Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV).American journal of ophthalmology · 2022Observational
- Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.American journal of ophthalmology · 2021Article
- Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.iScience · 2020Review
- Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.Human molecular genetics · 2020Article
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- Phenotypic variance in Calpain-5 retinal degeneration.American journal of ophthalmology case reports · 2020Article
- Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.Cell reports · 2020Article
- CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.Human mutation · 2019Article
- Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.Scientific reports · 2019Article
- VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.Investigative ophthalmology & visual science · 2019Article
- Early Onset Neovascular Inflammatory Vitreoretinopathy Due to aOcular immunology and inflammation · 2019Article
- Capn5 Expression in the Healthy and Regenerating Zebrafish Retina.Investigative ophthalmology & visual science · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 1 country.
Gabriel VelezOmics Laboratory, Stanford University, Palo Alto, California 94304, USA.
Alexander G BassukDepartment of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.
Kellie A SchaeferOmics Laboratory, Stanford University, Palo Alto, California 94304, USA.
Brian BrooksPediatric, Developmental, and Genetic Eye Disease Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Lokesh GakharDepartment of Biochemistry, University of Iowa, Iowa City, Iowa 52242, USA.
MaryAnn MahajanOmics Laboratory, Stanford University, Palo Alto, California 94304, USA.
Philip KahnDepartment of Pediatrics, Division of Pediatric Rheumatology, New York University, New York, New York 10016, USA.
Stephen H TsangBarbara and Donald Jonas Laboratory of Stem Cells and Regenerative Medicine and Bernard & Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, Columbia University, New York, New York 10016, USA.
Polly J FergusonDepartment of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.
Vinit B MahajanOmics Laboratory, Stanford University, Palo Alto, California 94304, USA.
Stanford University · USUniversity of Iowa · USColumbia University · USNational Eye Institute · USNew York University · USPalo Alto Veterans Institute for Research · US
Funding
Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Parisa Tehranifar · 1985 to 2026
$115.3MMEDICAL SCIENTIST TRAINING PROGRAMT32GM007337 · NIGMS · UNIVERSITY OF IOWA · PI GEYER, PAMELA K., LENTZ, STEVEN R · 1985 to 2020
$15.9MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MStanford Vision Research CoreP30EY026877 · NEI · STANFORD UNIVERSITY · PI Jeffrey L Goldberg · 2017 to 2026
$8.0MToward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6MGene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7MGenetic & immunologic etiology of chronic recurrent multifocal osteomyelitis-CRMOR01AR059703 · NIAMS · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, FERGUSON, POLLY J · 2010 to 2019
$3.5MStructure and Function of Calpain-5R01EY024665 · NEI · UNIVERSITY OF IOWA · PI MAHAJAN, VINIT B · 2015 to 2019
$1.9MMechanistic Studies on Regenerative Medicine Approaches to Childhood BlindnessR01EY026682 · NEI · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2016 to 2019
$1.6MMechanism-based therapies for photoreceptor degenerationR01EY025225 · NEI · UNIVERSITY OF IOWA · PI MAHAJAN, VINIT B · 2015 to 2018
$1.3MEvaluating GWAS AMD Candidate Loci by Gene Editing in Human iPS CellsR21AG050437 · NIA · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2015 to 2016
$431kStructure-function studies of Calpain-5 in hereditary uveitisF30EY027986 · NEI · UNIVERSITY OF IOWA · PI VELEZ, GABRIEL · 2018 to 2021
$164kNCI NIH HHS P30 CA013696NEI NIH HHS F30 EY027986NEI NIH HHS F31 EY026789NEI NIH HHS P30 EY019007NEI NIH HHS P30 EY026877NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024665NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY025225NEI NIH HHS R01 EY026682NIAMS NIH HHS R01 AR059703NIA NIH HHS R21 AG050437NIGMS NIH HHS T32 GM007337
Abstract
Mutations that activate the protease calpain-5 (
Indexed as
MutationAllelesAmino Acid SequenceCalpainChild, PreschoolDevelopmental DisabilitiesElectroencephalographyExome SequencingGenetic Association StudiesGenotypeHearing LossHumansMaleModels, MolecularPedigreePhenotypeCalpainCapn5 protein, humandegenerative vitreoretinopathydelayed social developmentmid-frequency hearing lossneovascularization of peripheral and posterior retinaretrobulbar optic neuritisuveitis
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.