{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T17:50:46Z","timestamp":1793296246886,"version":"4.5.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2000,11,1]],"date-time":"2000-11-01T00:00:00Z","timestamp":973036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. The disease is usually inherited as an autosomal recessive trait. To identify a gene locus for PCD, we studied a large consanguineous family of Arabic origin. Direct examination of the respiratory cilia revealed ciliary akinesia. Electron microscopic examination of cilia showed absence of the outer dynein arms. Two of four affected individuals exhibited a situs inversus, typical for Kartagener syndrome, due to randomization of the left\/right body axis. A total genome scan with 340 highly polymorphic microsatellites was performed. We localized a new gene locus for PCD to a region of homozygosity by descent on chromosome 5p15-p14 with a parametric multipoint logarithm of odds ratio (LOD) score of Zmax = 3.51 flanked by markers D5S2095 and D5S502 within an interval of 20 centimorgans sex-averaged genetic distance. Applying a polymerase chain reaction\u2013based approach, we identified a 1.5-kb partial complementary DNA of DNAH5 encoding a Chlamydomonas-related axonemal heavy dynein chain within the critical disease interval of this new PCD locus. On the basis of the Chlamydomonas model for PCD, this gene represents an excellent candidate for PCD.<\/jats:p>","DOI":"10.1165\/ajrcmb.23.5.4257","type":"journal-article","created":{"date-parts":[[2013,4,3]],"date-time":"2013-04-03T21:50:17Z","timestamp":1365025817000},"page":"696-702","source":"Crossref","is-referenced-by-count":107,"title":["Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain\n                    <i>DNAH5<\/i>\n                    as a Candidate Gene"],"prefix":"10.1093","volume":"23","author":[{"given":"Heymut","family":"Omran","sequence":"first","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karsten","family":"H\u00e4ffner","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"V\u00f6lkel","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim","family":"Kuehr","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe-Peter","family":"Ketelsen","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe-Henning","family":"Ross","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaus","family":"Konietzko","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Wienker","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Brandis","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[{"name":"University Children's Hospital Freiburg, Freiburg; University Hospital for Ear, Nose and Throat, Freiburg; Ruhrland-Klinik Essen, Essen; and Institute for Medical Statistics, University of Bonn, Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2000,11,1]]},"reference":[{"key":"2026030700061784300_B1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1126\/science.1084576","article-title":"A human syndrome caused by immotile cilia.","volume":"193","author":"Afzelius","year":"1976","journal-title":"Science"},{"key":"2026030700061784300_B2","first-page":"68","article-title":"New developments in the diagnosis of Kartagener's syndrome.","volume":"116","author":"Teknos","year":"1997","journal-title":"Otolaryngol. 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Genet."},{"key":"2026030700061784300_B7","doi-asserted-by":"crossref","first-page":"1853","DOI":"10.1083\/jcb.135.6.1853","article-title":"The sup-pf-2 mutations of Chlamydomonas alter the activity of the outer dynein arms by modification of the gamma-dynein heavy chain.","volume":"135","author":"Rupp","year":"1996","journal-title":"J. Cell Biol."},{"key":"2026030700061784300_B8"},{"key":"2026030700061784300_B9","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/270729a0","article-title":"Possibility of EB virus preferentially transforming a subpopulation of human B lymphocytes.","volume":"270","author":"Steel","year":"1977","journal-title":"Nature"},{"key":"2026030700061784300_B10","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1086\/302011","article-title":"Comprehensive human genetic maps: individual and sex\u2013specific variation in recombination.","volume":"63","author":"Broman","year":"1998","journal-title":"Am. J. Hum. 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