ArticlePLoS genetics2017
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 76 citations in OpenAlex.
- Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank.Nature communications · 2025Pooled it
- Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics.Pharmacological reviews · 2021Pooled it
- Comprehensive Prediction Analysis of Novel Noncoding Regulatory Variants Identified in the MicroRNA Binding Regions in Complement System Genes.International journal of molecular sciences · 2026Article
- Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Adaptation and conservation of CL-10/11 in avian lungs: implications for their role in pulmonary innate immune protection.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Article
- Breast cancer metastasis progression is associated with elevated activity of kynurenine monooxygenase and kynureninase.British journal of cancer · 2024Article
- scRNA-seq reveals the diversity of the developing cardiac cell lineage and molecular players in heart rhythm regulation.iScience · 2024Article
- The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding.Journal of molecular medicine (Berlin, Germany) · 2024Article
- Ribosome biogenesis controls cranial suture MSC fate via the complement pathway in mouse and human iPSC models.Stem cell reports · 2023Article
- The C-type lectin COLEC10 is predominantly produced by hepatic stellate cells and involved in the pathogenesis of liver fibrosis.Cell death & disease · 2023Article
- Matrix Metalloproteinase 1 as a Marker of Tonsil-Derived Mesenchymal Stem Cells to Assess Bone Marrow Cell Migration.Tissue engineering and regenerative medicine · 2023Article
- The complex formation of MASP-3 with pattern recognition molecules of the lectin complement pathway retains MASP-3 in the circulation.Frontiers in immunology · 2022Article
- Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.Frontiers in pediatrics · 2022Review
- Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.Molecular genetics & genomic medicine · 2021Article
- Further Expansion of the Mutational Spectrum of 3MC Syndrome: A NovelMolecular syndromology · 2021Article
- Management of Knee Flexion Contracture in a Child With 3MC Syndrome Using Taylor Spatial Frame.Cureus · 2021Article
- A Plausible Role for Collectins in Skin Immune Homeostasis.Frontiers in immunology · 2021Review
- Extensive Mendelian randomization study identifies potential causal risk factors for severe COVID-19.Communications medicine · 2021Article
- Association of Polymorphisms ofInternational journal of molecular sciences · 2020Review
- Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families. The protein products of COLEC11 and COLEC10, CL-K1 and CL-L1 respectively, form heteromeric complexes. We show COLEC10 is expressed in the base membrane of the palate during murine embryo development. We demonstrate how mutations in COLEC10 (c.25C>T; p.Arg9Ter, c.226delA; p.Gly77Glufs*66 and c.528C>G p.Cys176Trp) impair the expression and/or secretion of CL-L1 highlighting their pathogenicity. Together, these findings provide further evidence linking the lectin complement pathway and complement factors COLEC11 and COLEC10 to morphogenesis of craniofacial structures and 3MC etiology.
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Registered trials
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.