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DC Field | Value | Language |
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dc.contributor.author | Munye, MM | - |
dc.contributor.author | Diaz-Font, A | - |
dc.contributor.author | Ocaka, L | - |
dc.contributor.author | Henriksen, ML | - |
dc.contributor.author | Lees, M | - |
dc.contributor.author | Brady, A | - |
dc.contributor.author | Jenkins, D | - |
dc.contributor.author | Morton, J | - |
dc.contributor.author | Hansen, SW | - |
dc.contributor.author | Bacchelli, C | - |
dc.contributor.author | Beales, PL | - |
dc.contributor.author | Hernandez-Hernandez, V | - |
dc.contributor.editor | Wilkie, AOM | - |
dc.date.accessioned | 2019-02-20T14:30:15Z | - |
dc.date.available | 2017-03-16 | - |
dc.date.available | 2019-02-20T14:30:15Z | - |
dc.date.issued | 2017-03-16 | - |
dc.identifier.citation | Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, et al. (2017) COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genet 13(3): e1006679. | en_US |
dc.identifier.issn | 1553-7404 | - |
dc.identifier.uri | http://bura.brunel.ac.uk/handle/2438/17520 | - |
dc.description.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. | en_US |
dc.description.sponsorship | New life Fundation for Disabled Children | en_US |
dc.format.extent | e1006679 - e1006679 | - |
dc.language.iso | en | en_US |
dc.publisher | Public Library of Science | en_US |
dc.title | COLEC10 is mutated in 3MC patients and regulates early craniofacial development | en_US |
dc.type | Article | en_US |
dc.identifier.doi | http://dx.doi.org/10.1371/journal.pgen.1006679 | - |
dc.relation.isPartOf | PLOS Genetics | - |
pubs.issue | 3 | - |
pubs.publication-status | Published | - |
pubs.volume | 13 | - |
dc.identifier.eissn | 1553-7404 | - |
Appears in Collections: | Dept of Life Sciences Research Papers |
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FullText.pdf | 1.58 MB | Adobe PDF | View/Open |
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