ArticleProceedings of the National Academy of Sciences of the United States of America2018
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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Who cites it
69 citing papers in PubMed, 105 citations in OpenAlex.
- Dose matters: haploinsufficiency in osteogenesis imperfecta.Nature reviews. Endocrinology · 2026Review
- Zebrafish knock-in lines enabling live visualization of extracellular matrix dynamics during development and regeneration.Development (Cambridge, England) · 2026Article
- Coordinated Bone-Muscle Axis Association in South China Carp (Foods (Basel, Switzerland) · 2026Article
- Functional validation using a zebrafish model reclassifies the rare COL1A2 p.Gly418Ala variant as a cause of Osteogenesis Imperfecta.Scientific reports · 2026Article
- Collagen hybridizing peptide to target in vivo misfolded collagen in OI zebrafish.Scientific reports · 2026Article
- The Fibrillar Collagens of Bony Fish: Genes, Proteins, and Biomedical Applications.Sub-cellular biochemistry · 2026Review
- Diverging pathomechanisms underlying collagen I-related and MBTPS2-related osteogenesis imperfecta: insights from patient-derived fibroblasts and iPSC-based modelling of bone.Frontiers in endocrinology · 2026Article
- Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant.BMC medical genomics · 2025Article
- Epidermal stem cells control periderm injury repair via matrix-driven specialization of intercellular junctions.Nature communications · 2025Article
- Oxidative stress-induced intervertebral disc remodelling and elevated stiffness drive idiopathic scoliosis in preclinical models.Nature communications · 2025Article
- Combined antiresorptive and new anabolic drug approach in osteogenesis imperfecta zebrafish models.JBMR plus · 2025Article
- Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish.Lab animal · 2025Article
- Loss of the Ubiquitin-Associated Domain of sqstm1/p62 in Zebrafish Causes a Phenotype Resembling Paget's Disease of Bone.Calcified tissue international · 2025Article
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- Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?Frontiers in cardiovascular medicine · 2025Review
- MicroCT Scanning and Analysis of the Zebrafish Skeleton.Methods in molecular biology (Clifton, N.J.) · 2025Article
- A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.Calcified tissue international · 2024Review
- Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.Calcified tissue international · 2024Review
- A Collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid.iScience · 2024Article
- Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 5 institutions in 2 countries.
Funding
Abstract
The type I collagenopathies are a group of heterogeneous connective tissue disorders, that are caused by mutations in the genes encoding type I collagen and include specific forms of osteogenesis imperfecta (OI) and the Ehlers-Danlos syndrome (EDS). These disorders present with a broad disease spectrum and large clinical variability of which the underlying genetic basis is still poorly understood. In this study, we systematically analyzed skeletal phenotypes in a large set of zebrafish, with diverse mutations in the genes encoding type I collagen, representing different genetic forms of human OI, and a zebrafish model resembling human EDS, which harbors a number of soft connective tissues defects, typical of EDS. Furthermore, we provide insight into how zebrafish and human type I collagen are compositionally and functionally related, which is relevant in the interpretation of human type I collagen-related disease models. Our studies reveal a high degree of intergenotype variability in phenotypic expressivity that closely correlates with associated OI severity. Furthermore, we demonstrate the potential for select mutations to give rise to phenotypic variability, mirroring the clinical variability associated with human disease pathology. Therefore, our work suggests the future potential for zebrafish to aid in identifying unknown genetic modifiers and mechanisms underlying the phenotypic variability in OI and related disorders. This will improve diagnostic strategies and enable the discovery of new targetable pathways for pharmacological intervention.
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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.