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| http://purl.uniprot.org/citations/34211969 | http://www.w3.org/2000/01/rdf-schema#comment | "The primary cilium is a ubiquitous, microtubule-based cellular organelle. Primary cilia dysfunction results in a group of disorders termed ciliopathies. C2 domain containing 3 centriole elongation regulator (C2cd3), encodes a centriolar protein essential for ciliogenesis. Mutations in human C2CD3 are associated with the human ciliopathy Oral-Facial-Digital syndrome type 14 (OFD14). In order to better understand the etiology of ciliopathies including OFD14, we generated numerous murine models targeting C2cd3. Initial analysis revealed several tissue-specific isoforms of C2cd3, and while the loss of C2cd3 has previously been reported to result in exencephaly, tight mesencephalic flexure, pericardial edema, abnormal heart looping and a twisted body axis, further analysis revealed that genetic background may also contribute to phenotypic variation. Additional analyses of a conditional allelic series targeting C-terminal PKC-C2 domains or the N-terminal C2CD3N-C2 domain of C2cd3 revealed a variable degree of phenotypic severity, suggesting that while the N-terminal C2CD3N-C2 domain was critical for early embryonic development as a whole, there was also a craniofacial specific role for the C2CD3N-C2 domains. Together, through generation of novel models and evaluation of C2cd3 expression, these data provide valuable insight into mechanisms of pathology for craniofacial ciliopathies that can be further explored in the future."xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.org/dc/terms/identifier | "doi:10.3389/fcell.2021.647391"xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/author | "Yang Y."xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/author | "Brown K.M."xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/author | "Chang C.F."xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/author | "Brugmann S.A."xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/name | "Front Cell Dev Biol"xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/pages | "647391"xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/title | "Centriolar Protein C2cd3 Is Required for Craniofacial Development."xsd:string |
| http://purl.uniprot.org/citations/34211969 | http://purl.uniprot.org/core/volume | "9"xsd:string |
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