{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:18:18Z","timestamp":1791044298417,"version":"4.1.0"},"reference-count":35,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2001,4,1]],"date-time":"2001-04-01T00:00:00Z","timestamp":986083200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4492,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2001,4]]},"DOI":"10.1086\/319511","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T17:32:28Z","timestamp":1027704748000},"page":"1030-1035","source":"Crossref","is-referenced-by-count":231,"title":["Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)"],"prefix":"10.1016","volume":"68","author":[{"given":"C\u00e9cile","family":"Guichard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-C\u00e9cile","family":"Harricane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Jacques","family":"Lafitte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Godard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Zaegel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Tack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Lalau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Bouvagnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/319511_bib2","first-page":"283","article-title":"Asymmetry of cilia and of mice and men","volume":"43","author":"Afzelius","year":"1999","journal-title":"Int J Dev Biol"},{"key":"10.1086\/319511_bib1","first-page":"287","article-title":"Ciliary structure in health and disease","volume":"54","author":"Afzelius","year":"2000","journal-title":"Acta Otorhinolaryngol Belg"},{"key":"10.1086\/319511_bib3","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1038\/81695","article-title":"Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects","volume":"26","author":"Bamford","year":"2000","journal-title":"Nat Genet"},{"key":"10.1086\/319511_bib4","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1016\/S0959-437X(05)80136-4","article-title":"Flagella in prokaryotes and lower eukaryotes","volume":"2","author":"Blair","year":"1992","journal-title":"Curr Opin Genet Dev"},{"key":"10.1086\/319511_bib5","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":"10.1086\/319511_bib6","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","author":"Brody","year":"2000","journal-title":"Am J Respir Cell Mol Biol"},{"key":"10.1086\/319511_bib7","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/BF00231951","article-title":"Spermatogenesis revisited. IV. Abnormal spermiogenesis in mice homozygous for another male-sterility-inducing mutation, hpy (hydrocephalic-polydactyly)","volume":"180","author":"Bryan","year":"1977","journal-title":"Cell Tissue Res"},{"key":"10.1086\/319511_bib8","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/S0014-5793(97)00800-4","article-title":"Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment","volume":"412","author":"Chapelin","year":"1997","journal-title":"FEBS Lett"},{"key":"10.1086\/319511_bib9","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1172\/JCI4786","article-title":"Mutation of the mouse hepatocyte nuclear factor\/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry","volume":"102","author":"Chen","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1086\/319511_bib10","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/ng1197-305","article-title":"X-linked situs abnormalities result from mutations in ZIC3","volume":"17","author":"Gebbia","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/319511_bib14","first-page":"357","article-title":"Success rates of respiratory epithelial cell culture techniques with ciliogenesis for diagnosing primary ciliary dyskinesia","volume":"54","author":"Jorissen","year":"2000","journal-title":"Acta Otorhinolaryngol Belg"},{"key":"10.1086\/319511_bib12","first-page":"343","article-title":"Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture","volume":"54","author":"Jorissen","year":"2000","journal-title":"Acta Otorhinolaryngol Belg"},{"key":"10.1086\/319511_bib16","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/BF02141468","article-title":"Zur Pathologie der Bronchiektasien: Bronchiektasien bei Situs viscerum invertus","volume":"83","author":"Kartagener","year":"1933","journal-title":"Beitr Klin Tuberk"},{"key":"10.1086\/319511_bib17","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1086\/302289","article-title":"Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development","volume":"64","author":"Kosaki","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/319511_bib18","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<70::AID-AJMG14>3.0.CO;2-Y","article-title":"Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB","volume":"82","author":"Kosaki","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1086\/319511_bib19","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1159\/000015645","article-title":"No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia","volume":"90","author":"Maiti","year":"2000","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/319511_bib20","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1038\/sj.ejhg.5200555","article-title":"Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain gene","volume":"8","author":"Maiti","year":"2000","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/319511_bib21","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1007\/s003359900202","article-title":"Characterization of a novel human dynein-related gene that is specifically expressed in testis","volume":"7","author":"Milisav","year":"1996","journal-title":"Mamm Genome"},{"key":"10.1086\/319511_bib22","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/26006","article-title":"Cloning of inv, a gene that controls left\/right asymmetry and kidney development","volume":"395","author":"Mochizuki","year":"1998","journal-title":"Nature"},{"key":"10.1086\/319511_bib23","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/2450","article-title":"Inversin, a novel gene in vertebrate left-right axis pathway, is partially deleted in the inv mouse","volume":"20","author":"Morgan","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/319511_bib24","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/S0378-1119(97)00417-4","article-title":"Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene","volume":"200","author":"Neesen","year":"1997","journal-title":"Gene"},{"key":"10.1086\/319511_bib25","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0092-8674(00)81705-5","article-title":"Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein","volume":"95","author":"Nonaka","year":"1998","journal-title":"Cell"},{"key":"10.1086\/319511_bib26","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<155::AID-AJMG11>3.0.CO;2-T","article-title":"Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia","volume":"82","author":"Noone","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1086\/319511_bib27","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/S1097-2765(00)80197-5","article-title":"Abnormal nodal flow precedes situs inversus in iv and inv mice","volume":"4","author":"Okada","year":"1999","journal-title":"Mol Cell"},{"key":"10.1086\/319511_bib28","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":"10.1086\/319511_bib29","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/S0955-0674(96)80042-1","article-title":"Axonemal dyneins: assembly, organization, and regulation","volume":"8","author":"Porter","year":"1996","journal-title":"Curr Opin Cell Biol"},{"key":"10.1086\/319511_bib30","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/31520","article-title":"Dynein arms are oscillating force generators","volume":"393","author":"Shingyoji","year":"1998","journal-title":"Nature"},{"key":"10.1086\/319511_bib31","first-page":"139","article-title":"\u00dcber einen Fall von Bronchiectasie bei einem Patienten mit Situs inversus viscerum","volume":"41","author":"Siewert","year":"1904","journal-title":"Berl Klin Wochenschr"},{"key":"10.1086\/319511_bib33","doi-asserted-by":"crossref","first-page":"5495","DOI":"10.1242\/dev.126.23.5495","article-title":"Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries","volume":"126","author":"Supp","year":"1999","journal-title":"Development"},{"key":"10.1086\/319511_bib32","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1038\/40140","article-title":"Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice","volume":"389","author":"Supp","year":"1997","journal-title":"Nature"},{"key":"10.1086\/319511_bib35","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1083\/jcb.145.4.825","article-title":"Left-right asymmetry and kinesin superfamily protein KIF3A new insights in determination of laterality and mesoderm induction by kif3A-\/- mice analysis","volume":"145","author":"Takeda","year":"1999","journal-title":"J Cell Biol"},{"key":"10.1086\/319511_bib37","doi-asserted-by":"crossref","first-page":"8769","DOI":"10.1073\/pnas.90.19.8769","article-title":"Molecular analysis of the microtubule motor dynein","volume":"90","author":"Vallee","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/319511_bib38","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1006\/geno.1996.0422","article-title":"Multiple mouse chromosomal loci for dynein-based motility","volume":"36","author":"Vaughan","year":"1996","journal-title":"Genomics"},{"key":"10.1086\/319511_bib40","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1378\/chest.80.6.896","article-title":"Mucociliary transport and ultrastructural abnormalities in Polynesian bronchiectasis","volume":"80","author":"Waite","year":"1981","journal-title":"Chest"},{"key":"10.1086\/319511_bib41","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/0955-0674(92)90061-G","article-title":"Axonemal dyneins","volume":"4","author":"Witman","year":"1992","journal-title":"Curr Opin Cell Biol"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970761427X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970761427X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,17]],"date-time":"2021-05-17T05:36:56Z","timestamp":1621229816000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970761427X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4]]},"references-count":35,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2001,4]]}},"alternative-id":["S000292970761427X"],"URL":"https:\/\/doi.org\/10.1086\/319511","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2001,4]]}}}