{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:36:55Z","timestamp":1791351415304,"version":"4.3.1"},"reference-count":66,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,8,28]],"date-time":"2013-08-28T00:00:00Z","timestamp":1377648000000},"content-version":"vor","delay-in-days":27,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016187","name":"Newlife the Charity for Disabled Children","doi-asserted-by":"publisher","award":["10-11\/15"],"award-info":[{"award-number":["10-11\/15"]}],"id":[{"id":"10.13039\/100016187","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["32003B_135709"],"award-info":[{"award-number":["32003B_135709"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["144082"],"award-info":[{"award-number":["144082"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/K018558\/10"],"award-info":[{"award-number":["MR\/K018558\/10"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"publisher","award":["RTF-1411"],"award-info":[{"award-number":["RTF-1411"]}],"id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"publisher","award":["GN1773"],"award-info":[{"award-number":["GN1773"]}],"id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000317","name":"Action Medical Research","doi-asserted-by":"publisher","award":["GN2101"],"award-info":[{"award-number":["GN2101"]}],"id":[{"id":"10.13039\/501100000317","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,8]]},"DOI":"10.1016\/j.ajhg.2013.07.009","type":"journal-article","created":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T11:46:43Z","timestamp":1374752803000},"page":"346-356","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":167,"title":["Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia"],"prefix":"10.1016","volume":"93","author":[{"given":"Daniel\u00a0J.","family":"Moore","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Onoufriadis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Shoemark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael\u00a0A.","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra\u00a0I.","family":"zur\u00a0Lage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra\u00a0C.","family":"de\u00a0Castro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Bartoloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Gallone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavroula","family":"Petridi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wesley\u00a0J.","family":"Woollard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinu","family":"Antony","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Schmidts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Didonna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Periklis","family":"Makrythanasis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Bevillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel\u00a0P.","family":"Mongan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Djakow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Pals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane\u00a0S.","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June\u00a0K.","family":"Marthin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim\u00a0G.","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Santoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Guipponi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hogg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos\u00a0E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard\u00a0D.","family":"Emes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eddie\u00a0M.K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas\u00a0D.E.","family":"Greene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Blouin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew\u00a0P.","family":"Jarman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah\u00a0M.","family":"Mitchison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.07.009_bib1","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2013.07.009_bib2","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1091\/mbc.e12-11-0801","article-title":"The N-DRC forms a conserved biochemical complex that maintains outer doublet\u00a0alignment and limits microtubule sliding in motile axonemes","volume":"24","author":"Bower","year":"2013","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2013.07.009_bib3","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1016\/j.devcel.2012.05.010","article-title":"Forkhead transcription factor Fd3F cooperates with Rfx to regulate a gene expression program for mechanosensory cilia specialization","volume":"22","author":"Newton","year":"2012","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2013.07.009_bib4","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/nature04541","article-title":"Flagellar motility is required for the viability of the bloodstream trypanosome","volume":"440","author":"Broadhead","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.07.009_bib5","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1242\/jcs.051326","article-title":"Flagellar and ciliary beating: the proven and the possible","volume":"123","author":"Lindemann","year":"2010","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2013.07.009_bib6","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1136\/thx.53.10.894","article-title":"Genetics and pulmonary medicine. 6. Immotile cilia syndrome: past, present, and prospects for the future","volume":"53","author":"Afzelius","year":"1998","journal-title":"Thorax"},{"key":"10.1016\/j.ajhg.2013.07.009_bib7","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1136\/adc.2006.096958","article-title":"Primary ciliary dyskinesia: current state of the art","volume":"92","author":"Bush","year":"2007","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ajhg.2013.07.009_bib8","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1183\/09031936.00176608","article-title":"Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children","volume":"34","author":"Barbato","year":"2009","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.ajhg.2013.07.009_bib9","doi-asserted-by":"crossref","first-page":"2814","DOI":"10.1161\/CIRCULATIONAHA.106.649038","article-title":"Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia","volume":"115","author":"Kennedy","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.ajhg.2013.07.009_bib10","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ppul.22632","article-title":"RPGR mutations might cause reduced orientation of respiratory cilia","volume":"48","author":"Bukowy-Biery\u0142\u0142o","year":"2013","journal-title":"Pediatr. Pulmonol."},{"key":"10.1016\/j.ajhg.2013.07.009_bib11","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng817","article-title":"Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry","volume":"30","author":"Olbrich","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib12","doi-asserted-by":"crossref","first-page":"10282","DOI":"10.1073\/pnas.152337699","article-title":"Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia","volume":"99","author":"Bartoloni","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2013.07.009_bib13","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1086\/302683","article-title":"Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia","volume":"65","author":"Pennarun","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib14","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ajhg.2008.10.001","article-title":"DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm","volume":"83","author":"Loges","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib15","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.ajhg.2011.03.018","article-title":"Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1","volume":"88","author":"Mazor","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib16","doi-asserted-by":"crossref","first-page":"3336","DOI":"10.1073\/pnas.0611405104","article-title":"A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia","volume":"104","author":"Duriez","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2013.07.009_bib17","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ajhg.2012.11.002","article-title":"Splice-site mutations in the\u00a0axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia","volume":"92","author":"Onoufriadis","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib18","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ajhg.2012.11.003","article-title":"Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia","volume":"92","author":"Knowles","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib19","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ajhg.2009.01.011","article-title":"Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities","volume":"84","author":"Castleman","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib20","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2012.08.016","article-title":"Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry","volume":"91","author":"Olbrich","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib21","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng.727","article-title":"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation","volume":"43","author":"Becker-Heck","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib22","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.726","article-title":"CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs","volume":"43","author":"Merveille","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib23","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/ng.2533","article-title":"The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans","volume":"45","author":"Wirschell","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib24","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ng.1106","article-title":"Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia","volume":"44","author":"Mitchison","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib25","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.ajhg.2009.10.018","article-title":"Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects","volume":"85","author":"Loges","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib26","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/j.ajhg.2009.11.008","article-title":"Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia","volume":"85","author":"Duquesnoy","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib27","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/nature07471","article-title":"Ktu\/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins","volume":"456","author":"Omran","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.07.009_bib28","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/ng.2277","article-title":"CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms","volume":"44","author":"Panizzi","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib29","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2012.08.022","article-title":"Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia","volume":"91","author":"Horani","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib30","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1016\/j.ajhg.2012.10.003","article-title":"Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia","volume":"91","author":"Kott","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib31","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1183\/09031936.00046209","article-title":"A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia","volume":"35","author":"Papon","year":"2010","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.ajhg.2013.07.009_bib32","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1136\/jclinpath-2011-200415","article-title":"Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia","volume":"65","author":"Shoemark","year":"2012","journal-title":"J.\u00a0Clin. Pathol."},{"key":"10.1016\/j.ajhg.2013.07.009_bib33","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/S0091-6749(03)01799-8","article-title":"Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia","volume":"112","author":"Chilvers","year":"2003","journal-title":"J.\u00a0Allergy Clin. Immunol."},{"key":"10.1016\/j.ajhg.2013.07.009_bib34","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","article-title":"BEDTools: a flexible suite of utilities for comparing genomic features","volume":"26","author":"Quinlan","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2013.07.009_bib35","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ajhg.2012.06.008","article-title":"De novo mutations in MLL cause Wiedemann-Steiner syndrome","volume":"91","author":"Jones","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib36","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"Abecasis","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.07.009_bib37","doi-asserted-by":"crossref","first-page":"bap022","DOI":"10.1093\/database\/bap022","article-title":"Cildb: a knowledgebase for centrosomes and cilia","volume":"2009","author":"Arnaiz","year":"2009","journal-title":"Database (Oxford)"},{"key":"10.1016\/j.ajhg.2013.07.009_bib38","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1165\/rcmb.2006-0466OC","article-title":"Transcriptional profiling of mucociliary differentiation in human airway epithelial cells","volume":"37","author":"Ross","year":"2007","journal-title":"Am. J. Respir. Cell Mol. Biol."},{"key":"10.1016\/j.ajhg.2013.07.009_bib39","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/s00439-010-0922-4","article-title":"Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes","volume":"129","author":"Geremek","year":"2011","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib40","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/sj.ejhg.5200429","article-title":"Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity","volume":"8","author":"Blouin","year":"2000","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib41","doi-asserted-by":"crossref","first-page":"3357","DOI":"10.1101\/gad.12.21.3357","article-title":"Determinants of coactivator LXXLL motif specificity in nuclear receptor transcriptional activation","volume":"12","author":"McInerney","year":"1998","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2013.07.009_bib42","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1152\/physiolgenomics.00128.2007","article-title":"Tissue expression patterns identify mouse cilia genes","volume":"32","author":"McClintock","year":"2008","journal-title":"Physiol. Genomics"},{"key":"10.1016\/j.ajhg.2013.07.009_bib43","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1038\/sj.onc.1206243","article-title":"Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers","volume":"22","author":"Agathanggelou","year":"2003","journal-title":"Oncogene"},{"key":"10.1016\/j.ajhg.2013.07.009_bib44","doi-asserted-by":"crossref","first-page":"e12847","DOI":"10.1371\/journal.pone.0012847","article-title":"Distinct epigenetic domains separated by a CTCF bound insulator between the tandem genes, BLU and RASSF1A","volume":"5","author":"Chang","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2013.07.009_bib45","doi-asserted-by":"crossref","first-page":"e1000568","DOI":"10.1371\/journal.pbio.1000568","article-title":"The gene regulatory cascade linking proneural specification with differentiation in Drosophila sensory neurons","volume":"9","author":"Cachero","year":"2011","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ajhg.2013.07.009_bib46","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/hmg\/11.10.1215","article-title":"Studies of mechanosensation using the fly","volume":"11","author":"Jarman","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib47","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/cm.20493","article-title":"NOMPC, a member of the TRP channel family, localizes to the tubular body and distal cilium of Drosophila campaniform and chordotonal receptor cells","volume":"68","author":"Liang","year":"2011","journal-title":"Cytoskeleton (Hoboken)"},{"key":"10.1016\/j.ajhg.2013.07.009_bib48","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1073\/pnas.0405741102","article-title":"Power gain exhibited by motile mechanosensory neurons in Drosophila ears","volume":"102","author":"G\u00f6pfert","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2013.07.009_bib49","doi-asserted-by":"crossref","first-page":"5514","DOI":"10.1073\/pnas.0737564100","article-title":"Motion generation by Drosophila mechanosensory neurons","volume":"100","author":"G\u00f6pfert","year":"2003","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2013.07.009_bib50","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1016\/j.cell.2012.06.043","article-title":"Drosophila auditory organ genes and genetic hearing defects","volume":"150","author":"Senthilan","year":"2012","journal-title":"Cell"},{"issue":"Database issue","key":"10.1016\/j.ajhg.2013.07.009_bib51","first-page":"D751","article-title":"FlyBase: improvements to the bibliography","volume":"41","author":"Marygold","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2013.07.009_bib52","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","author":"Yu","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib53","doi-asserted-by":"crossref","first-page":"4021","DOI":"10.1242\/dev.041129","article-title":"FoxJ1-dependent gene expression is required for differentiation of radial glia into ependymal cells and a subset of astrocytes in the postnatal brain","volume":"136","author":"Jacquet","year":"2009","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2013.07.009_bib54","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","author":"Stubbs","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.07.009_bib55","doi-asserted-by":"crossref","first-page":"5487","DOI":"10.1242\/dev.00148","article-title":"Drosophila regulatory factor X is necessary for ciliated sensory neuron differentiation","volume":"129","author":"Dubruille","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2013.07.009_bib56","doi-asserted-by":"crossref","first-page":"e11012","DOI":"10.1371\/journal.pone.0011012","article-title":"Drosophila TRPN(=NOMPC) channel localizes to the distal end of mechanosensory cilia","volume":"5","author":"Lee","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2013.07.009_bib57","doi-asserted-by":"crossref","first-page":"e27822","DOI":"10.1371\/journal.pone.0027822","article-title":"Drosophila Dynein intermediate chain gene, Dic61B, is required for spermatogenesis","volume":"6","author":"Fatima","year":"2011","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2013.07.009_bib58","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1016\/j.cub.2008.05.031","article-title":"Axoneme beta-tubulin sequence determines attachment of outer dynein arms","volume":"18","author":"Raff","year":"2008","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2013.07.009_bib59","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1534\/genetics.110.114009","article-title":"Hearing in Drosophila requires TilB, a conserved protein associated with ciliary motility","volume":"185","author":"Kavlie","year":"2010","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2013.07.009_bib60","doi-asserted-by":"crossref","first-page":"5981","DOI":"10.1523\/JNEUROSCI.20-16-05981.2000","article-title":"Genetically similar transduction mechanisms for touch and hearing in Drosophila","volume":"20","author":"Eberl","year":"2000","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.ajhg.2013.07.009_bib61","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1126\/science.1090289","article-title":"A protein interaction map of Drosophila melanogaster","volume":"302","author":"Giot","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2013.07.009_bib62","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.semcdb.2011.07.026","article-title":"Mediator-dependent nuclear receptor function","volume":"22","author":"Chen","year":"2011","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2013.07.009_bib63","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1038\/nature04209","article-title":"Towards a proteome-scale map of the human protein-protein interaction network","volume":"437","author":"Rual","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2013.07.009_bib64","doi-asserted-by":"crossref","first-page":"20305","DOI":"10.1073\/pnas.1010436107","article-title":"tRNA(His) guanylyltransferase (THG1), a unique 3\u2032-5\u2032 nucleotidyl transferase, shares unexpected structural homology with canonical 5\u2032-3\u2032 DNA polymerases","volume":"107","author":"Hyde","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2013.07.009_bib65","doi-asserted-by":"crossref","first-page":"27439","DOI":"10.1074\/jbc.274.39.27439","article-title":"Transforming growth factor-beta-stimulated clone-22 is a member of a family of leucine zipper proteins that can homo- and heterodimerize and has transcriptional repressor activity","volume":"274","author":"Kester","year":"1999","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.07.009_bib66","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/1370","article-title":"Paxillin LD motifs may define a new family of protein recognition domains","volume":"5","author":"Brown","year":"1998","journal-title":"Nat. Struct. Biol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713003273?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713003273?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T12:08:13Z","timestamp":1777378093000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929713003273"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8]]},"references-count":66,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["S0002929713003273"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.07.009","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.718050584.793504030","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.07.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}