ArticleAmerican journal of human genetics2019
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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36citing papers in PubMed
4.1field-weighted citation impact, top 5% of its field
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 61 citations in OpenAlex.
- Intranasal MyD88-adjuvanted DNA vaccine against P. gingivalis in rat periodontitis.BMC oral health · 2026Article
- Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.Matrix biology : journal of the International Society for Matrix Biology · 2026Article
- Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.Clinical genetics · 2026Article
- Case Report: Primary hemophagocytic lymphohistiocytosis with a homozygous PRF1 variant: a case suggesting early immunoporosis and an expanded phenotypic spectrum.Frontiers in immunology · 2026Article
- Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.Human mutation · 2026Article
- Neurotrauma induced retinal basement membrane COL4A1 defects are restored by adipose tissue derived mesenchymal stem cell concentrated conditioned medium.Stem cell research & therapy · 2025Article
- Collagen IV in Gould syndrome and Alport syndrome.Nature reviews. Nephrology · 2025Review
- A collagen IV fluorophore knock-in toolkit reveals trimer diversity in C. elegans basement membranes.The Journal of cell biology · 2025Article
- A multifunction murine Col4a1 allele reveals potential gene therapy parameters for Gould syndrome.The Journal of cell biology · 2025Article
- An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.Nature communications · 2025Article
- Multimodal neuroimaging ofFrontiers in neuroscience · 2025Article
- Skeletal pathology in mouse models of Gould syndrome is partially alleviated by genetically reducing TGFβ signaling.Matrix biology : journal of the International Society for Matrix Biology · 2024Article
- Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.Cells & development · 2024Article
- Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.EBioMedicine · 2024Article
- En route towards a personalized medicine approach: Innovative therapeutic modalities for connective tissue disorders.Matrix biology : journal of the International Society for Matrix Biology · 2023Review
- PI3K block restores age-dependent neurovascular coupling defects associated with cerebral small vessel disease.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Effects of Obesity in Old Age on the Basement Membrane of Skeletal Muscle in Mice.International journal of molecular sciences · 2023Article
- COL4A1 promotes the proliferation and migration of oral squamous cell carcinoma cells by binding to NID1.Experimental and therapeutic medicine · 2023Article
- Faulty TRPM4 channels underlie age-dependent cerebral vascular dysfunction in Gould syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Proteomic analysis of peripheral nerve myelin during murine aging.Frontiers in cellular neuroscience · 2023Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Cassandre Labelle-DumaisDepartment of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA.
Vera SchuitemaDepartment of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA.
Genki HayashiDepartment of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA.
Kendall HoffDepartment of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA.
Wenhui GongDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA.
Dang Q DaoDepartment of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA.
Erik M UllianDepartment of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA.
Peter OishiDepartment of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA.
Marta MargetaDepartment of Pathology, University of California, San Francisco, San Francisco, CA 94143, USA.
Douglas B GouldDepartment of Ophthalmology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Anatomy, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: douglas.gould@ucsf.edu.
University of California, San Francisco · US
Funding
Clinical and Translational Science InstituteUL1TR001872 · NCATS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI COLLARD, HAROLD R, JACOBY, VANESSA · 2016 to 2025
$112.1MRapid-Prototyping and Design CoreP30EY002162 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ULLIAN, ERIK M · 1985 to 2024
$16.8MTraining Program for the Visual SciencesT32EY007120 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI COPENHAGEN, DAVID RICHARD · 1990 to 2015
$2.9MInvestigating the extracellular matrix in vascular development and maintenanceR01NS083830 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GOULD, DOUGLAS · 2014 to 2017
$1.4MTesting Mechanism Based Interventions for Col4a1-related Cerebrovascular DiseaseF32HL140942 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HAYASHI, GENKI · 2018 to 2019
$123kNCATS NIH HHS UL1 TR001872NEI NIH HHS P30 EY002162NEI NIH HHS T32 EY007120NHLBI NIH HHS F32 HL140942NINDS NIH HHS R01 NS083830
Abstract
Collagen type IV alpha 1 and alpha 2 chains form heterotrimers ([α1(IV)]
Indexed as
MutationAnimalsCollagen Type IVFemaleHumansMaleMiceMice, Inbred C57BLMuscular DiseasesNeuromuscular DiseasesOrgan SpecificityPhenotypeCOL4A1 protein, humanCol4a1 protein, mouseCOL4A2 protein, humanCollagen Type IV4-phenylbutyrateBasement MembraneCOL4A1COL4A2Collagen IVECMmyelinationMyopathyNeuromuscular diseaseSchwann cells
Identifiers
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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.