{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:01:37Z","timestamp":1753884097731,"version":"3.41.2"},"reference-count":64,"publisher":"The Company of Biologists","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"am","delay-in-days":2329,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:p>Oral-facial-digital syndrome (OFD) is a ciliopathy characterized by oral-facial abnormalities including cleft lip\/palate, broad nasal root, dental anomalies, micrognathia and glossal defects. In addition, these patients have several other characteristic abnormalities typical of a ciliopathy including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellum. Recently, a subset of human OFD cases has been linked to mutations in the centriolar protein C2 calcium-dependent domain-containing 3 (C2CD3). Our previous work identified mutations in C2CD3 as the causal genetic lesion for the avian talpid2 mutant. Based on this common genetic etiology, we re-examined the talpid2 mutant biochemically and phenotypically for characteristics of OFD. We found that, as in OFD patients, protein-protein interactions between C2CD3 and OFD1 are reduced in talpid2 cells. Furthermore, we found that all common phenotypes were conserved between human OFD patients and avian talpid2 mutants. In light of these findings, we utilized the talpid2 to examine the cellular basis for the oral-facial phenotypes present in OFD. Specifically, we examined the development and differentiation of cranial neural crest cells (CNCCs) when C2CD3-dependent ciliogenesis is impaired. Our studies suggest that, whereas disruptions of C2CD3-dependent ciliogenesis do not affect CNCC specification or proliferation, CNCC migration and differentiation are disrupted. Loss of C2CD3-dependent ciliogenesis affects the dispersion and directional persistence of migratory CNCCs. Furthermore, loss of C2CD3-dependent ciliogenesis results in dysmorphic and enlarged CNCC-derived facial cartilages. Thus, these findings suggest that aberrant CNCC migration and differentiation could contribute to the pathology of oral-facial defects in OFD.<\/jats:p>","DOI":"10.1242\/dmm.020222","type":"journal-article","created":{"date-parts":[[2015,6,5]],"date-time":"2015-06-05T00:32:59Z","timestamp":1433464379000},"source":"Crossref","is-referenced-by-count":16,"title":["Using the avian mutant<i>talpid<\/i><i>2<\/i>as a disease model for understanding the oral-facial phenotypes of Oral-facial-digital syndrome"],"prefix":"10.1242","author":[{"given":"Elizabeth N.","family":"Schock","sequence":"first","affiliation":[{"name":"Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"},{"name":"Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ching-Fang","family":"Chang","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"},{"name":"Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime N.","family":"Struve","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"},{"name":"Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya-Ting","family":"Chang","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"},{"name":"Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Chang","sequence":"additional","affiliation":[{"name":"University of Cincinnati, Cincinnati, OH 45229, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary E.","family":"Delany","sequence":"additional","affiliation":[{"name":"College of Agricultural and Environmental Sciences, Department of Animal Science, University of California Davis, Davis, CA 95616, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha A.","family":"Brugmann","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery, Department of Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"},{"name":"Division of Developmental Biology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","reference":[{"key":"2021042612512246000_DMM020222C1","first-page":"1185","article-title":"A second talpid-like mutation in the fowl","volume":"38","author":"Abbott","year":"1959","journal-title":"Poul. Sci."},{"key":"2021042612512246000_DMM020222C2","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/oxfordjournals.jhered.a106988","article-title":"Studies with talpid2, an embryonic lethal of the fowl","volume":"51","author":"Abbott","year":"1960","journal-title":"J. Hered."},{"key":"2021042612512246000_DMM020222C3","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/j.ydbio.2004.05.028","article-title":"Shh and Fgf8 act synergistically to drive cartilage outgrowth during cranial development","volume":"273","author":"Abzhanov","year":"2004","journal-title":"Dev. Biol."},{"key":"2021042612512246000_DMM020222C4","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1111\/j.1399-0004.1984.tb04365.x","article-title":"Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations","volume":"26","author":"Annerhn","year":"1984","journal-title":"Clin. Genet."},{"key":"2021042612512246000_DMM020222C5","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1006\/dbio.2002.0811","article-title":"Mouse GLI3 regulates Fgf8 expression and apoptosis in the developing neural tube, face, and limb bud","volume":"251","author":"Aoto","year":"2002","journal-title":"Dev. Biol."},{"key":"2021042612512246000_DMM020222C6","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1038\/nature08733","article-title":"CHD7 cooperates with PBAF to control multipotent neural crest formation","volume":"463","author":"Bajpai","year":"2010","journal-title":"Nature"},{"key":"2021042612512246000_DMM020222C7","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1002\/ajmg.c.30231","article-title":"Making sense of cilia in disease: the human ciliopathies","volume":"151C","author":"Baker","year":"2009","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"2021042612512246000_DMM020222C8","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J. Med. Genet."},{"key":"2021042612512246000_DMM020222C65","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1002\/dvdy.10503","article-title":"GEISHA, a whole-mount in situ hybridization gene expression screen in chicken embryos","volume":"229","author":"Bell","year":"2004","journal-title":"Dev. Dyn."},{"key":"2021042612512246000_DMM020222C9","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1038\/8792","article-title":"Sox9 is required for cartilage formation","volume":"22","author":"Bi","year":"1999","journal-title":"Nat. Genet."},{"key":"2021042612512246000_DMM020222C10","doi-asserted-by":"publisher","first-page":"3283","DOI":"10.1242\/dev.005132","article-title":"Wnt signaling mediates regional specification in the vertebrate face","volume":"134","author":"Brugmann","year":"2007","journal-title":"Development"},{"key":"2021042612512246000_DMM020222C11","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1093\/hmg\/ddq030","article-title":"A primary cilia-dependent etiology for midline facial disorders","volume":"19","author":"Brugmann","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"2021042612512246000_DMM020222C12","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1016\/j.devcel.2011.10.012","article-title":"Complement fragment C3a controls mutual cell attraction during collective cell migration","volume":"21","author":"Carmona-Fontaine","year":"2011","journal-title":"Dev. Cell"},{"key":"2021042612512246000_DMM020222C13","doi-asserted-by":"crossref","first-page":"1671","DOI":"10.1242\/dev.127.8.1671","article-title":"Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis","volume":"127","author":"Chai","year":"2000","journal-title":"Development"},{"key":"2021042612512246000_DMM020222C14","doi-asserted-by":"publisher","first-page":"3003","DOI":"10.1242\/dev.105924","article-title":"The cellular and molecular etiology of the craniofacial defects in the avian ciliopathic mutant talpid2","volume":"141","author":"Chang","year":"2014","journal-title":"Development"},{"key":"2021042612512246000_DMM020222C15","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1159\/000103162","article-title":"GEISHA: an in situ hybridization gene expression resource for the chicken embryo","volume":"117","author":"Darnell","year":"2007","journal-title":"Cytogenet. Genome Res."},{"key":"2021042612512246000_DMM020222C16","doi-asserted-by":"publisher","first-page":"13403","DOI":"10.1073\/pnas.0603730103","article-title":"Tcof1\/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities","volume":"103","author":"Dixon","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042612512246000_DMM020222C17","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/ar.1092310213","article-title":"Talpid2 mutant chick limb has anteroposterior polarity and altered patterns of programmed cell death","volume":"231","author":"Dvorak","year":"1991","journal-title":"Anat. Rec."},{"key":"2021042612512246000_DMM020222C18","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1086\/318802","article-title":"Identification of the gene for oral-facial-digital type I syndrome","volume":"68","author":"Ferrante","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"2021042612512246000_DMM020222C19","doi-asserted-by":"publisher","first-page":"560","DOI":"10.1016\/S0888-7543(03)00091-0","article-title":"Characterization of the OFD1\/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant","volume":"81","author":"Ferrante","year":"2003","journal-title":"Genomics"},{"key":"2021042612512246000_DMM020222C20","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1038\/ng1684","article-title":"Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification","volume":"38","author":"Ferrante","year":"2006","journal-title":"Nat. Genet."},{"key":"2021042612512246000_DMM020222C21","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1093\/hmg\/ddn356","article-title":"Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene","volume":"18","author":"Ferrante","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"2021042612512246000_DMM020222C22","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1002\/ajmg.1320090112","article-title":"Spectrum of anomalies in the Meckel syndrome, or: \u201cmaybe there is a malformation syndrome with at least one constant anomaly\u201d","volume":"9","author":"Fraser","year":"1981","journal-title":"Am. J. Med. Genet."},{"volume-title":"Syndromes of the Head and Neck","year":"1990","author":"Gorlin","key":"2021042612512246000_DMM020222C23"},{"key":"2021042612512246000_DMM020222C24","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1002\/jmor.1050880104","article-title":"A series of normal stages in the development of the chick embryo","volume":"88","author":"Hamburger","year":"1951","journal-title":"J. Morphol."},{"key":"2021042612512246000_DMM020222C25","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1016\/j.cub.2005.12.047","article-title":"The development of archosaurian first-generation teeth in a chicken mutant","volume":"16","author":"Harris","year":"2006","journal-title":"Curr. Biol."},{"key":"2021042612512246000_DMM020222C26","doi-asserted-by":"publisher","first-page":"e1003851","DOI":"10.1371\/journal.pgen.1003851","article-title":"A critical role for PDGFRalpha signaling in medial nasal process development","volume":"9","author":"He","year":"2013","journal-title":"PLoS Genet."},{"key":"2021042612512246000_DMM020222C27","doi-asserted-by":"publisher","first-page":"3858","DOI":"10.1093\/hmg\/ddt241","article-title":"Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization","volume":"22","author":"Hernandez-Hernandez","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"2021042612512246000_DMM020222C28","doi-asserted-by":"publisher","first-page":"4049","DOI":"10.1242\/dev.029835","article-title":"C2cd3 is required for cilia formation and Hedgehog signaling in mouse","volume":"135","author":"Hoover","year":"2008","journal-title":"Development"},{"key":"2021042612512246000_DMM020222C29","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1002\/jnr.23343","article-title":"Primary cilia mediate sonic hedgehog signaling to regulate neuronal-like differentiation of bone mesenchymal stem cells for resveratrol induction in vitro","volume":"92","author":"Huang","year":"2014","journal-title":"J. Neurosci. Res."},{"key":"2021042612512246000_DMM020222C30","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1089\/scd.2010.0362","article-title":"The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells","volume":"20","author":"Hunkapiller","year":"2011","journal-title":"Stem Cells Dev."},{"key":"2021042612512246000_DMM020222C31","doi-asserted-by":"publisher","first-page":"285","DOI":"10.2174\/138920211795860134","article-title":"Keeping the balance between proliferation and differentiation: the primary cilium","volume":"12","author":"Irigoin","year":"2011","journal-title":"Curr. Genomics"},{"key":"2021042612512246000_DMM020222C32","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1083\/jcb.200706028","article-title":"Human embryonic stem cells in culture possess primary cilia with hedgehog signaling machinery","volume":"180","author":"Kiprilov","year":"2008","journal-title":"J. Cell Biol."},{"key":"2021042612512246000_DMM020222C33","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1111\/j.1699-0463.1999.tb01494.x","article-title":"Malformations of cranial base structures and pituitary gland in prenatal Meckel syndrome","volume":"107","author":"Kjaer","year":"1999","journal-title":"APMIS"},{"key":"2021042612512246000_DMM020222C34","doi-asserted-by":"publisher","first-page":"567","DOI":"10.4161\/cam.4.4.12890","article-title":"Regional differences in neural crest morphogenesis","volume":"4","author":"Kuo","year":"2010","journal-title":"Cell Adh. Migr."},{"key":"2021042612512246000_DMM020222C35","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1002\/neu.480240203","article-title":"Cell lineage analysis in neural crest ontogeny","volume":"24","author":"Le Douarin","year":"1993","journal-title":"J. Neurobiol."},{"key":"2021042612512246000_DMM020222C36","doi-asserted-by":"publisher","first-page":"4637","DOI":"10.1242\/dev.01350","article-title":"Neural crest cell plasticity and its limits","volume":"131","author":"Le Douarin","year":"2004","journal-title":"Development"},{"key":"2021042612512246000_DMM020222C37","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.4161\/cc.7.8.5641","article-title":"The stem cells of the neural crest","volume":"7","author":"Le Douarin","year":"2008","journal-title":"Cell Cycle"},{"key":"2021042612512246000_DMM020222C38","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.ydbio.2012.01.007","article-title":"The neural crest is a powerful regulator of pre-otic brain development","volume":"366","author":"Le Douarin","year":"2012","journal-title":"Dev. Biol."},{"key":"2021042612512246000_DMM020222C39","doi-asserted-by":"publisher","first-page":"e14","DOI":"10.1136\/jmg.38.5.e14","article-title":"Does Bardet-Biedl syndrome have a characteristic face?","volume":"38","author":"Lorda-Sanchez","year":"2001","journal-title":"J. Med. Genet."},{"key":"2021042612512246000_DMM020222C40","doi-asserted-by":"publisher","first-page":"1744","DOI":"10.1002\/dvdy.21999","article-title":"Zebrafish ift57, ift88, and ift172 intraflagellar transport mutants disrupt cilia but do not affect hedgehog signaling","volume":"238","author":"Lunt","year":"2009","journal-title":"Dev. Dyn."},{"key":"2021042612512246000_DMM020222C41","doi-asserted-by":"publisher","first-page":"641","DOI":"10.4161\/cib.21952","article-title":"Lowe syndrome: between primary cilia assembly and Rac1-mediated membrane remodeling","volume":"5","author":"Madhivanan","year":"2012","journal-title":"Commun. Integr. Biol."},{"key":"2021042612512246000_DMM020222C42","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1177\/088307389901400906","article-title":"Clinical features and revised diagnostic criteria in Joubert syndrome","volume":"14","author":"Maria","year":"1999","journal-title":"J. Child Neurol."},{"key":"2021042612512246000_DMM020222C43","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/j.tcb.2010.03.005","article-title":"Keeping in touch with contact inhibition of locomotion","volume":"20","author":"Mayor","year":"2010","journal-title":"Trends Cell Biol."},{"key":"2021042612512246000_DMM020222C44","doi-asserted-by":"publisher","first-page":"2605","DOI":"10.1242\/dev.040048","article-title":"Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development","volume":"137","author":"Minoux","year":"2010","journal-title":"Development"},{"key":"2021042612512246000_DMM020222C45","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1111\/j.1469-7580.2005.00473.x","article-title":"Relations and interactions between cranial mesoderm and neural crest populations","volume":"207","author":"Noden","year":"2005","journal-title":"J. Anat."},{"key":"2021042612512246000_DMM020222C46","doi-asserted-by":"publisher","first-page":"e87662","DOI":"10.1371\/journal.pone.0087662","article-title":"Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies","volume":"9","author":"Osborn","year":"2014","journal-title":"PLoS ONE"},{"key":"2021042612512246000_DMM020222C47","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.3174\/ajnr.A1038","article-title":"Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI","volume":"29","author":"Poretti","year":"2008","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"2021042612512246000_DMM020222C48","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1016\/j.cell.2011.06.010","article-title":"Life at the leading edge","volume":"145","author":"Ridley","year":"2011","journal-title":"Cell"},{"key":"2021042612512246000_DMM020222C49","doi-asserted-by":"publisher","first-page":"2556","DOI":"10.1097\/01.ASN.0000140220.46477.5C","article-title":"OFD1 is a centrosomal\/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis","volume":"15","author":"Romio","year":"2004","journal-title":"J. Am. Soc. Nephrol."},{"key":"2021042612512246000_DMM020222C50","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1007\/s004410051271","article-title":"From head to toe: conservation of molecular signals regulating limb and craniofacial morphogenesis","volume":"296","author":"Schneider","year":"1999","journal-title":"Cell Tissue Res."},{"key":"2021042612512246000_DMM020222C51","doi-asserted-by":"publisher","first-page":"1861","DOI":"10.1016\/j.cub.2005.09.012","article-title":"PDGFR\u03b1\u03b1 signaling is regulated through the primary cilium in fibroblasts","volume":"15","author":"Schneider","year":"2005","journal-title":"Curr. Biol."},{"key":"2021042612512246000_DMM020222C52","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1159\/000276562","article-title":"Directional cell migration and chemotaxis in wound healing response to PDGF-AA are coordinated by the primary cilium in fibroblasts","volume":"25","author":"Schneider","year":"2010","journal-title":"Cell Physiol. Biochem."},{"key":"2021042612512246000_DMM020222C53","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1016\/j.devcel.2009.12.022","article-title":"Ofd1, a human disease gene, regulates the length and distal structure of centrioles","volume":"18","author":"Singla","year":"2010","journal-title":"Dev. Cell"},{"key":"2021042612512246000_DMM020222C54","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/j.devcel.2013.05.021","article-title":"Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes","volume":"25","author":"Tabler","year":"2013","journal-title":"Dev. Cell"},{"key":"2021042612512246000_DMM020222C55","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1136\/jmg.2004.027672","article-title":"Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study","volume":"43","author":"Thauvin-Robinet","year":"2006","journal-title":"J. Med. Genet."},{"key":"2021042612512246000_DMM020222C56","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1038\/ng.3031","article-title":"The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation","volume":"46","author":"Thauvin-Robinet","year":"2014","journal-title":"Nat. Genet."},{"key":"2021042612512246000_DMM020222C57","doi-asserted-by":"publisher","first-page":"6714","DOI":"10.1073\/pnas.0707057105","article-title":"Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome","volume":"105","author":"Tobin","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042612512246000_DMM020222C58","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1038\/ng.594","article-title":"Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes","volume":"42","author":"Valente","year":"2010","journal-title":"Nat. Genet."},{"key":"2021042612512246000_DMM020222C59","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1016\/j.devcel.2014.10.005","article-title":"SRF regulates craniofacial development through selective recruitment of MRTF cofactors by PDGF signaling","volume":"31","author":"Vasudevan","year":"2014","journal-title":"Dev. Cell"},{"key":"2021042612512246000_DMM020222C60","doi-asserted-by":"publisher","first-page":"4565","DOI":"10.1093\/hmg\/ddp422","article-title":"A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling","volume":"18","author":"Weatherbee","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"2021042612512246000_DMM020222C61","doi-asserted-by":"publisher","first-page":"2164","DOI":"10.1073\/pnas.1318737111","article-title":"C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals","volume":"111","author":"Ye","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042612512246000_DMM020222C62","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1002\/dvg.20728","article-title":"The emerging face of primary cilia","volume":"49","author":"Zaghloul","year":"2011","journal-title":"Genesis"},{"key":"2021042612512246000_DMM020222C63","doi-asserted-by":"publisher","first-page":"e24608","DOI":"10.1371\/journal.pone.0024608","article-title":"Fuz regulates craniofacial development through tissue specific responses to signaling factors","volume":"6","author":"Zhang","year":"2011","journal-title":"PLoS ONE"}],"container-title":["Disease Models &amp; Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/8\/8\/855\/1869064\/dmm020222.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.020222\/2069265\/dmm_020222v1.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.020222\/2069265\/dmm_020222v1.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,11]],"date-time":"2023-08-11T04:22:19Z","timestamp":1691727739000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/dmm\/article\/doi\/10.1242\/dmm.020222\/257103\/Using-the-avian-mutant-talpid2-as-a-disease-model"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":64,"URL":"https:\/\/doi.org\/10.1242\/dmm.020222","relation":{},"ISSN":["1754-8411","1754-8403"],"issn-type":[{"type":"electronic","value":"1754-8411"},{"type":"print","value":"1754-8403"}],"subject":[],"published":{"date-parts":[[2015,1,1]]},"article-number":"dmm.020222"}}