{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:09:09Z","timestamp":1791220149716,"version":"4.1.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,2,4]],"date-time":"2017-02-04T00:00:00Z","timestamp":1486166400000},"content-version":"vor","delay-in-days":187,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2016,8]]},"DOI":"10.1016\/j.ajhg.2016.06.022","type":"journal-article","created":{"date-parts":[[2016,8,2]],"date-time":"2016-08-02T21:13:44Z","timestamp":1470172424000},"page":"489-500","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":107,"title":["Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility"],"prefix":"10.1016","volume":"99","author":[{"given":"Elma","family":"El\u00a0Khouri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludovic","family":"Jeanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Bequignon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Vallette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Duquesnoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Montantin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Copin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Dastot-Le\u00a0Moal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Blanchon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u00a0Fran\u00e7ois","family":"Papon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Lor\u00e8s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Collot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Tissier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Faucon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9rard","family":"Gacon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Patrat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u00a0Philippe","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Dulioust","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Crestani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Escudier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Coste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Legendre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aminata","family":"Tour\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Amselem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2016.06.022_bib1","doi-asserted-by":"crossref","first-page":"63","DOI":"10.3109\/10409238509086788","article-title":"The immotile-cilia syndrome: a microtubule-associated defect","volume":"19","author":"Afzelius","year":"1985","journal-title":"CRC Crit. Rev. Biochem."},{"key":"10.1016\/j.ajhg.2016.06.022_bib2","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","author":"Satir","year":"2007","journal-title":"Annu. Rev. Physiol."},{"key":"10.1016\/j.ajhg.2016.06.022_bib3","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/cm.970240403","article-title":"Flagellar radial spoke: a model molecular genetic system for studying organelle assembly","volume":"24","author":"Curry","year":"1993","journal-title":"Cell Motil. Cytoskeleton"},{"key":"10.1016\/j.ajhg.2016.06.022_bib4","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/cm.10155","article-title":"The radial spokes and central apparatus: mechano-chemical transducers that regulate flagellar motility","volume":"57","author":"Smith","year":"2004","journal-title":"Cell Motil. Cytoskeleton"},{"key":"10.1016\/j.ajhg.2016.06.022_bib5","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.2016.06.022_bib6","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/cm.21271","article-title":"Mammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypes","volume":"73","author":"Teves","year":"2016","journal-title":"Cytoskeleton (Hoboken)"},{"key":"10.1016\/j.ajhg.2016.06.022_bib7","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","author":"Kott","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2016.06.022_bib8","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","author":"Knowles","year":"2014","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"10.1016\/j.ajhg.2016.06.022_bib9","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ajhg.2009.01.011","article-title":"Mutations in radial spoke head\u00a0protein 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.2016.06.022_bib10","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ajhg.2015.05.004","article-title":"RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes","volume":"97","author":"Jeanson","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2016.06.022_bib11","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.2016.06.022_bib12","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1083\/jcb.200308132","article-title":"Intraflagellar transport (IFT) cargo: IFT transports flagellar precursors to the tip and turnover products to the cell body","volume":"164","author":"Qin","year":"2004","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2016.06.022_bib13","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1091\/mbc.E04-09-0787","article-title":"Dimeric novel HSP40 is incorporated into the radial spoke complex during the assembly process in flagella","volume":"16","author":"Yang","year":"2005","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2016.06.022_bib14","doi-asserted-by":"crossref","first-page":"E86","DOI":"10.1542\/peds.108.5.e86","article-title":"Abnormal central complex is a marker of severity in the presence of partial ciliary defect","volume":"108","author":"Tamalet","year":"2001","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajhg.2016.06.022_bib15","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/1750-1172-7-78","article-title":"Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study","volume":"7","author":"Papon","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ajhg.2016.06.022_bib16","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1093\/humupd\/dmp048","article-title":"World Health Organization reference values for human semen characteristics","volume":"16","author":"Cooper","year":"2010","journal-title":"Hum. Reprod. Update"},{"key":"10.1016\/j.ajhg.2016.06.022_bib17","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.2016.06.022_bib18","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1111\/j.1439-0531.2009.01473.x","article-title":"DNAJB13 is a radial spoke protein of mouse \u20189+2\u2019 axoneme","volume":"45","author":"Guan","year":"2010","journal-title":"Reprod. Domest. Anim."},{"key":"10.1016\/j.ajhg.2016.06.022_bib19","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s12861-014-0038-5","article-title":"DNAJB13, a type II HSP40 family member, localizes to the spermatids and spermatozoa during mouse spermatogenesis","volume":"14","author":"Li","year":"2014","journal-title":"BMC Dev. Biol."},{"key":"10.1016\/j.ajhg.2016.06.022_bib20","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1002\/mrd.20874","article-title":"A heat-shock protein 40, DNAJB13, is an axoneme-associated component in mouse spermatozoa","volume":"75","author":"Guan","year":"2008","journal-title":"Mol. Reprod. Dev."},{"key":"10.1016\/j.ajhg.2016.06.022_bib21","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1083\/jcb.200705069","article-title":"Dimeric heat shock protein 40 binds radial spokes for generating coupled power strokes and recovery strokes of 9\u00a0+ 2 flagella","volume":"180","author":"Yang","year":"2008","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2016.06.022_bib22","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1471-213X-9-23","article-title":"Spatiotemporal association of DNAJB13 with the annulus during mouse sperm flagellum development","volume":"9","author":"Guan","year":"2009","journal-title":"BMC Dev. Biol."},{"key":"10.1016\/j.ajhg.2016.06.022_bib23","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1515\/BC.2011.074","article-title":"Septins at the annulus of mammalian sperm","volume":"392","author":"Toure","year":"2011","journal-title":"Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.022_bib24","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1379\/1466-1268(1998)003<0028:SFAEOD>2.3.CO;2","article-title":"Structure, function and evolution of DnaJ: conservation and adaptation of chaperone function","volume":"3","author":"Cheetham","year":"1998","journal-title":"Cell Stress Chaperones"},{"key":"10.1016\/j.ajhg.2016.06.022_bib25","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1074\/jbc.270.5.2139","article-title":"The conserved G\/F motif of the DnaJ chaperone is necessary for the activation of the substrate binding properties of the DnaK chaperone","volume":"270","author":"Wall","year":"1995","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.022_bib26","doi-asserted-by":"crossref","first-page":"34231","DOI":"10.1074\/jbc.M110.144642","article-title":"Role of DnaJ G\/F-rich domain in conformational recognition and binding of protein substrates","volume":"285","author":"Perales-Calvo","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.022_bib27","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/abbs\/36.2.93","article-title":"Molecular cloning of TSARG6 gene related to apoptosis in human spermatogenic cells","volume":"36","author":"Liu","year":"2004","journal-title":"Acta Biochim. Biophys. Sin. (Shanghai)"},{"key":"10.1016\/j.ajhg.2016.06.022_bib28","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1080\/10425170500129736","article-title":"Molecular cloning of a novel rat gene Tsarg1, a member of the DnaJ\/HSP40 protein family","volume":"16","author":"Yang","year":"2005","journal-title":"DNA Seq."},{"key":"10.1016\/j.ajhg.2016.06.022_bib29","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S0969-2126(00)00170-2","article-title":"The crystal structure of the peptide-binding fragment from the yeast Hsp40 protein Sis1","volume":"8","author":"Sha","year":"2000","journal-title":"Structure"},{"key":"10.1016\/j.ajhg.2016.06.022_bib30","doi-asserted-by":"crossref","first-page":"22761","DOI":"10.1074\/jbc.M503643200","article-title":"The C-terminal (331-376) sequence of Escherichia coli DnaJ is essential for\u00a0dimerization and chaperone activity: a small angle X-ray\u00a0scattering study in solution","volume":"280","author":"Shi","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.022_bib31","doi-asserted-by":"crossref","first-page":"13671","DOI":"10.1074\/jbc.M408349200","article-title":"Low resolution structural study of two human HSP40 chaperones in solution. DJA1 from subfamily A and DJB4 from subfamily B have different quaternary structures","volume":"280","author":"Borges","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2016.06.022_bib32","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1007\/s00018-006-6192-6","article-title":"The diversity of the DnaJ\/Hsp40 family, the crucial partners for Hsp70 chaperones","volume":"63","author":"Qiu","year":"2006","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.ajhg.2016.06.022_bib33","doi-asserted-by":"crossref","first-page":"3541","DOI":"10.1242\/jcs.108.11.3541","article-title":"Identification of a molecular chaperone in the eukaryotic flagellum and its localization to the site of microtubule assembly","volume":"108","author":"Bloch","year":"1995","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2016.06.022_bib34","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1002\/(SICI)1097-0169(199912)44:4<274::AID-CM5>3.0.CO;2-O","article-title":"Molecular chaperones in cilia and flagella: implications for protein turnover","volume":"44","author":"Stephens","year":"1999","journal-title":"Cell Motil. Cytoskeleton"},{"key":"10.1016\/j.ajhg.2016.06.022_bib35","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/S0014-4827(03)00325-2","article-title":"Subunits of the chaperonin CCT are\u00a0associated with Tetrahymena microtubule structures and are involved in cilia biogenesis","volume":"290","author":"Seixas","year":"2003","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ajhg.2016.06.022_bib36","doi-asserted-by":"crossref","first-page":"e1005368","DOI":"10.1371\/journal.pgen.1005368","article-title":"RFX2 Is a Major Transcriptional Regulator of Spermiogenesis","volume":"11","author":"Kistler","year":"2015","journal-title":"PLoS Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302269?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716302269?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T19:40:22Z","timestamp":1656963622000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929716302269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8]]},"references-count":36,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["S0002929716302269"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.06.022","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility","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.2016.06.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}