{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:23:36Z","timestamp":1791275016712,"version":"4.1.0"},"reference-count":76,"publisher":"Oxford University Press (OUP)","issue":"2","funder":[{"DOI":"10.13039\/501100004097","name":"Fondation ARC","doi-asserted-by":"publisher","award":["EML20110602384"],"award-info":[{"award-number":["EML20110602384"]}],"id":[{"id":"10.13039\/501100004097","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,1,15]]},"DOI":"10.1093\/hmg\/ddx396","type":"journal-article","created":{"date-parts":[[2017,11,6]],"date-time":"2017-11-06T20:11:43Z","timestamp":1509999103000},"page":"266-282","source":"Crossref","is-referenced-by-count":50,"title":["Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies"],"prefix":"10.1093","volume":"27","author":[{"given":"Rebecca","family":"Ryan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Failler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeline Louise","family":"Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriem","family":"Garfa-Traore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Delous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Filhol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Th\u00e9r\u00e8se","family":"Reboul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschk\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Baudouin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Amselem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Escudier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Legendre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Benmerah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,11,7]]},"reference":[{"key":"key\n\t\t\t\t20180105052425_ddx396-B1","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1146\/annurev.physiol.69.040705.141236","article-title":"Overview of structure and function of mammalian cilia","volume":"69","year":"2007","journal-title":"Annu. Rev. Physiol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B2","article-title":"Cilia and mucociliary clearance","year":"2016","journal-title":"Cold Spring Harb. Perspect. Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B3","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.cell.2005.04.008","article-title":"Mechanism of nodal flow: A conserved symmetry breaking event in left-right axis determination","volume":"121","year":"2005","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B4","first-page":"1907","article-title":"Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer\u2019s vesicle is required for normal organogenesis","volume":"132","year":"2005","journal-title":"Dev. Camb. Engl"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B5","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/j.devcel.2007.03.004","article-title":"The Graded Response to Sonic Hedgehog Depends on Cilia Architecture","volume":"12","year":"2007","journal-title":"Dev. Cell"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B6","doi-asserted-by":"crossref","first-page":"119","DOI":"10.4161\/19490992.2014.956593","article-title":"Organized chaos in Kupffer\u2019s vesicle: how a heterogeneous structure achieves consistent left-right patterning","volume":"4","year":"2014","journal-title":"Bioarchitecture"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B7","first-page":"585","article-title":"Two proteins isolated from sea urchin sperm flagella: structural components common to the stable microtubules of axonemes and centrioles","volume":"111 (Pt 5)","year":"1998","journal-title":"J. Cell Sci"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B8","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1006\/jmbi.1996.0170","article-title":"Structural comparison of tektins and evidence for their determination of complex spacings in flagellar microtubules","volume":"257","year":"1996","journal-title":"J. Mol. Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B9","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1242\/dev.121.6.1615","article-title":"Transcriptional control of tektin A mRNA correlates with cilia development and length determination during sea urchin embryogenesis","volume":"121","year":"1995","journal-title":"Development"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B10","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.1091\/mbc.E03-11-0854","article-title":"A tektin homologue is decreased in Chlamydomonas mutants lacking an axonemal inner-arm dynein","volume":"15","year":"2004","journal-title":"Mol. Biol. Cell"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B11","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1078\/0171-9335-00097","article-title":"The spatial and temporal expression of Tekt1, a mouse tektin C homologue, during spermatogenesis suggest that it is involved in the development of the sperm tail basal body and axoneme","volume":"79","year":"2000","journal-title":"Eur. J. Cell Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B12","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1002\/mrd.20804","article-title":"Tektin5, a new TEKTIN family member, is a component of the middle piece of flagella in rat spermatozoa","volume":"75","year":"2008","journal-title":"Mol. Reprod. Dev"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B13","first-page":"1013","article-title":"Absence of tektin 4 causes asthenozoospermia and subfertility in male mice","volume":"21","year":"2007","journal-title":"FASEB J. Off. Publ. Fed. Am. Soc. Exp. Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B14","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/mrd.20957","article-title":"Tektin 3 is required for progressive sperm motility in mice","volume":"76","year":"2009","journal-title":"Mol. Reprod. Dev"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B15","doi-asserted-by":"crossref","first-page":"7958","DOI":"10.1128\/MCB.24.18.7958-7964.2004","article-title":"Mice deficient in the axonemal protein Tektin-t exhibit male infertility and immotile-cilium syndrome due to impaired inner arm dynein function","volume":"24","year":"2004","journal-title":"Mol. Cell. Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B16","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1038\/ng.267","article-title":"The forkhead protein Foxj1 specifies node-like cilia in Xenopus and zebrafish embryos","volume":"40","year":"2008","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B17","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1038\/ng.263","article-title":"Foxj1 transcription factors are master regulators of the motile ciliogenic program","volume":"40","year":"2008","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B18","first-page":"1","article-title":"RFX3 Modulation of FOXJ1 regulation of cilia genes in the human airway epithelium","volume":"14","year":"2013","journal-title":"Respir. Res"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B19","first-page":"170","article-title":"Identification of FOXJ1 effectors during ciliogenesis in the foetal respiratory epithelium and embryonic left-right organiser of the mouse","volume":"423","year":"2016","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B20","doi-asserted-by":"crossref","first-page":"18499","DOI":"10.1073\/pnas.1005998107","article-title":"The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretch","volume":"107","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B21","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.tibs.2015.09.003","article-title":"IFT-cargo interactions and protein transport in cilia","volume":"40","year":"2015","journal-title":"Trends Biochem. Sci"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B22","doi-asserted-by":"crossref","first-page":"773","DOI":"10.15252\/embj.201593164","article-title":"Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin-binding IFT-B2 complex","volume":"35","year":"2016","journal-title":"embo J"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B23","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1038\/ng.3558","article-title":"The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery","volume":"48","year":"2016","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B24","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.prrv.2009.02.001","article-title":"Ciliary defects and genetics of primary ciliary dyskinesia","volume":"10","year":"2009","journal-title":"Paediatr. Respir. Rev"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B25","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.ajhg.2013.07.013","article-title":"Loss-of-function mutations in RSPH1 Cause primary ciliary dyskinesia with central-complex and radial-spoke defects","volume":"93","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B26","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/path.4843","article-title":"Motile and non-motile cilia in human pathology: from function to phenotypes","volume":"241","year":"2017","journal-title":"J. Pathol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B27","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1097\/GIM.0b013e3181a53562","article-title":"Clinical and genetic aspects of primary ciliary dyskinesia\/Kartagener syndrome","volume":"11","year":"2009","journal-title":"Genet. Med"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B28","doi-asserted-by":"crossref","first-page":"pii: a028191","DOI":"10.1101\/cshperspect.a028191","article-title":"Ciliopathies","volume":"9","year":"2017","journal-title":"Cold Spring Harb. Perspect. Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B29","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.c.31336","article-title":"Ciliary disorder of the skeleton","volume":"160C","year":"2012","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B30","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1016\/j.ajhg.2012.03.006","article-title":"Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations","volume":"90","year":"2012","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B31","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/j.ajhg.2013.09.012","article-title":"Defects in the IFT-B component IFT172 cause jeune and mainzer-saldino syndromes in humans","volume":"93","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B32","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/humu.22294","article-title":"Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease","volume":"34","year":"2013","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B33","doi-asserted-by":"crossref","first-page":"2762","DOI":"10.1002\/ajmg.a.36265","article-title":"Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients","volume":"161","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B34","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1136\/jmg.2011.088864","article-title":"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome","volume":"48","year":"2011","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B35","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/j.ajhg.2009.04.016","article-title":"DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, Type III","volume":"84","year":"2009","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B36","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.ajhg.2011.10.001","article-title":"Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19","volume":"89","year":"2011","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B37","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1007\/s00467-015-3068-8","article-title":"Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney","volume":"30","year":"2015","journal-title":"Pediatr. Nephrol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B38","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1007\/s00467-014-2762-2","article-title":"Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies","volume":"29","year":"2014","journal-title":"Pediatr. Nephrol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B39","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s00439-013-1297-0","article-title":"Identification of 99 novel mutations in a worldwide cohort of 1, 056 patients with a nephronophthisis-related ciliopathy","volume":"132","year":"2013","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B40","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/cge.12196","article-title":"WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome","volume":"84","year":"2013","journal-title":"Clin. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B41","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/jmedgenet-2012-101282","article-title":"Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families","volume":"50","year":"2013","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B42","doi-asserted-by":"crossref","first-page":"S12.","DOI":"10.1016\/j.diff.2011.11.001","article-title":"Architecture and function of IFT complex proteins in ciliogenesis","volume":"83","year":"2012","journal-title":"Differentiation"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B43","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.neuron.2014.06.022","article-title":"Loss of dishevelleds disrupts planar polarity in ependymal motile cilia and results in hydrocephalus","volume":"83","year":"2014","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B44","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1093\/hmg\/ddq031","article-title":"Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse","volume":"19","year":"2010","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B45","doi-asserted-by":"crossref","first-page":"1601090.","DOI":"10.1183\/13993003.01090-2016","article-title":"European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia","volume":"49","year":"2017","journal-title":"Eur. Respir. J"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B46","doi-asserted-by":"crossref","first-page":"8666","DOI":"10.1038\/ncomms9666","article-title":"Mutations in TRAF3IP1\/IFT54 reveal a new role for IFT proteins in microtubule stabilization","volume":"6","year":"2015","journal-title":"Nat. Commun"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B47","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/j.ajhg.2014.05.002","article-title":"Mutations of CEP83 cause infantile nephronophthisis and intellectual disability","volume":"94","year":"2014","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B48","doi-asserted-by":"crossref","first-page":"229.","DOI":"10.1186\/gb-2008-9-7-229","article-title":"The tektin family of microtubule-stabilizing proteins","volume":"9","year":"2008","journal-title":"Genome Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B49","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1111\/nep.12996","article-title":"Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports","volume":"22","year":"2017","journal-title":"Nephrol. Carlton Vic"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B50","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1083\/jcb.201110049","article-title":"The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking","volume":"197","year":"2012","journal-title":"J. Cell Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B51","doi-asserted-by":"crossref","first-page":"1808","DOI":"10.1093\/hmg\/ddr613","article-title":"Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies","volume":"21","year":"2012","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B52","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/molehr\/8.6.525","article-title":"Cloning and characterization of the human tektin-t gene","volume":"8","year":"2002","journal-title":"Mol. Hum. Reprod"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B53","doi-asserted-by":"crossref","first-page":"14384","DOI":"10.1074\/jbc.M112.441501","article-title":"Cep57 protein is required for cytokinesis by facilitating central spindle microtubule organization","volume":"288","year":"2013","journal-title":"J. Biol. Chem"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B54","doi-asserted-by":"crossref","first-page":"3362","DOI":"10.1093\/hmg\/ddu046","article-title":"Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects","volume":"23","year":"2014","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B55","year":"2004"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B56","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/B978-0-12-381320-6.00011-4","article-title":"Zebrafish Assays of Ciliopathies","volume":"105","year":"2011","journal-title":"Methods Cell Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B57","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1242\/dev.057752","article-title":"Cilia-driven fluid flow as an epigenetic cue for otolith biomineralization on sensory hair cells of the inner ear","volume":"138","year":"2011","journal-title":"Development"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B58","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/ncb2042","article-title":"Vangl2 directs the posterior tilting and asymmetric localization of motile primary cilia","volume":"12","year":"2010","journal-title":"Nat. Cell Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B59","doi-asserted-by":"crossref","first-page":"2435","DOI":"10.1681\/ASN.2013101126","article-title":"A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS","volume":"25","year":"2014","journal-title":"J. Am. Soc. Nephrol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B60","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.756","article-title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum","volume":"43","year":"2011","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B61","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/S0896-6273(04)00268-5","article-title":"Intraflagellar transport genes are essential for differentation and survival of vertebrate sensory neurons","volume":"42","year":"2004","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B62","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajhg.2010.04.012","article-title":"Cranioectodermal dysplasia, sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene","volume":"86","year":"2010","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B63","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/ng.2898","article-title":"Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome","volume":"46","year":"2014","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B64","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1074\/mcp.M200037-MCP200","article-title":"A proteomic analysis of human cilia: identification of novel components","volume":"1","year":"2002","journal-title":"Mol. Cell. Proteomics"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B65","first-page":"1","article-title":"Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome","volume":"4","year":"2015","journal-title":"eLife"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B66","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/ng.2961","article-title":"Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia","volume":"46","year":"2014","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B67","doi-asserted-by":"crossref","first-page":"4418","DOI":"10.1038\/ncomms5418","article-title":"MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia","volume":"5","year":"2014","journal-title":"Nat. Commun"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B68","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1165\/ajrcmb.23.1.4070","article-title":"Ciliogenesis and left-right axis defects in forkhead factor HFH-4-null mice","volume":"23","year":"2000","journal-title":"Am. J. Respir. Cell Mol. Biol"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B69","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.devcel.2010.12.006","article-title":"Mechanistic Basis of Otolith Formation during Teleost Inner Ear Development","volume":"20","year":"2011","journal-title":"Dev. Cell"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B70","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/nature07520","article-title":"The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear","volume":"457","year":"2009","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B71","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/humu.22738","article-title":"Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer","volume":"36","year":"2015","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B72","doi-asserted-by":"crossref","first-page":"e72549","DOI":"10.1371\/journal.pone.0072549","article-title":"A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish","volume":"8","year":"2013","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B73","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1164\/rccm.201311-2047OC","article-title":"Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype","volume":"189","year":"2014","journal-title":"Am. J. Respir. Crit. Care Med"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B74","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","year":"2013","journal-title":"Curr. Protoc. Bioinforma"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B75","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1002\/humu.23005","article-title":"Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex subunit, cause primary ciliary dyskinesia with axonemal disorganization","volume":"37","year":"2016","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20180105052425_ddx396-B76","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.ydbio.2007.06.022","article-title":"The Wilms tumor genes wt1a and wt1b control different steps during formation of the zebrafish pronephros","volume":"309","year":"2007","journal-title":"Dev. Biol"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/2\/266\/23265361\/ddx396.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,6]],"date-time":"2022-08-06T15:41:16Z","timestamp":1659800476000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/27\/2\/266\/4600050"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,7]]},"references-count":76,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,11,7]]},"published-print":{"date-parts":[[2018,1,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx396","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,1,15]]},"published":{"date-parts":[[2017,11,7]]}}}