{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T19:26:16Z","timestamp":1766949976129,"version":"3.48.0"},"reference-count":5,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP19ek0109410"],"award-info":[{"award-number":["JP19ek0109410"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2025,12]]},"abstract":"ABSTRACT<\/jats:title>\n \n Primary ciliary dyskinesia (PCD) presents various clinical manifestations, including bronchiectasis, chronic sinusitis, situs inversus, and infertility. PCD is diagnosed through multiple methods, including transmission electron microscopy (TEM), high\u2010speed video microscopy analysis (HSVA), immunofluorescence (IF), and genetic testing. Recent reports show that a homozygous deletion involving exons 1\u20134 of\n DRC1<\/jats:italic>\n is common in Japanese patients with PCD. We report the case of a 29\u2010year\u2010old male without situs inversus previously diagnosed with diffuse panbronchiolitis, who underwent PCD testing. TEM appeared almost normal, and HSVA showed motile cilia with reduced amplitude. Genetic testing revealed a homozygous deletion involving exons 1\u20134 of\n DRC1<\/jats:italic>\n . Due to lack of a suitable DRC1 antibody for IF, we used the DRC3 antibody as in previous studies. IF showed the absence of DRC3 in the cilia, suggesting a\n DRC1<\/jats:italic>\n deletion affects DRC3 localization in the cilia. To the best of our knowledge, this case represents one of the earliest reports to perform IF and ciliary movement analysis in PCD with a homozygous deletion involving exons 1\u20134 of\n DRC1<\/jats:italic>\n .\n <\/jats:p>","DOI":"10.1002\/rcr2.70424","type":"journal-article","created":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T04:53:41Z","timestamp":1764651221000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Immunostaining and Ciliary Movement Analysis in Primary Ciliary Dyskinesia With a Homozygous Deletion Involving Exons 1\u20134 of\n DRC1<\/i>\n : A Case Report"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9075-9843","authenticated-orcid":false,"given":"Atsushi","family":"Kurokawa","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3673-5431","authenticated-orcid":false,"given":"Mitsuko","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayoko","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuno","family":"Shiota","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azusa","family":"Miyoshi","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumi","family":"Miyata","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7736-588X","authenticated-orcid":false,"given":"Keiko","family":"Kan\u2010o","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0045-1720","authenticated-orcid":false,"given":"Tomohiro","family":"Akaba","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"Arimura","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamitsu","family":"Yagi","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaname","family":"Nakatani","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine Mie University Hospital Tsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Ikejiri","sequence":"additional","affiliation":[{"name":"Department of Central Laboratories Mie University Hospital Tsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Head & Neck Surgery Mie University Graduate School of Medicine Tsu Japan"},{"name":"Department of Otorhinolaryngology Matsusaka Central General Hospital Matsusaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etsuko","family":"Tagaya","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Tokyo Women's Medical University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2533"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1137"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.resinv.2023.12.005"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.resinv.2022.02.003"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1910960116"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.70424","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T19:24:27Z","timestamp":1766949867000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.70424"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":5,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1002\/rcr2.70424"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.70424","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"type":"print","value":"2051-3380"},{"type":"electronic","value":"2051-3380"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"2025-08-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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