{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:22:51Z","timestamp":1784542971928,"version":"3.55.0"},"reference-count":28,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T00:00:00Z","timestamp":1628812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/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"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16K11210"],"award-info":[{"award-number":["16K11210"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19K09886"],"award-info":[{"award-number":["19K09886"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Auris Nasus Larynx"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1016\/j.anl.2021.08.003","type":"journal-article","created":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T01:40:35Z","timestamp":1629942035000},"page":"248-257","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia"],"prefix":"10.1016","volume":"49","author":[{"given":"Kazuki","family":"Chiyonobu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0373-6772","authenticated-orcid":false,"given":"Yifei","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guofei","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Saso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Ikejiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Abo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3673-5431","authenticated-orcid":false,"given":"Mitsuko","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8563-8200","authenticated-orcid":false,"given":"Shimpei","family":"Gotoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisami","family":"Kubo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koa","family":"Hosoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mizuho","family":"Nagao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9196-9436","authenticated-orcid":false,"given":"Takao","family":"Fujisawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaname","family":"Nakatani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6855-6425","authenticated-orcid":false,"given":"Kazuhiko","family":"Takeuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.anl.2021.08.003_bib0001","series-title":"The metabolic and molecular bases of inherited disease","first-page":"3943","article-title":"Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome","author":"Afzelius","year":"1995"},{"key":"10.1016\/j.anl.2021.08.003_bib0002","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ajhg.2016.11.019","article-title":"Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects","volume":"100","author":"Paff","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.anl.2021.08.003_bib0003","doi-asserted-by":"crossref","first-page":"14279","DOI":"10.1038\/ncomms14279","article-title":"X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3","volume":"8","author":"Olcese","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.anl.2021.08.003_bib0004","series-title":"SourceGeneReviews [Internet]","article-title":"Primary ciliary dyskinesia","author":"Zariwala","year":"1993"},{"key":"10.1016\/j.anl.2021.08.003_bib0005","doi-asserted-by":"crossref","first-page":"5077","DOI":"10.3892\/mmr.2016.5871","article-title":"Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia","volume":"14","author":"Kano","year":"2016","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.anl.2021.08.003_bib0006","doi-asserted-by":"crossref","first-page":"2383","DOI":"10.2169\/internalmedicine.1961-18","article-title":"A Japanese case of primary ciliary dyskinesia with DNAH5 mutations","volume":"58","author":"Orimo","year":"2019","journal-title":"Intern Med"},{"key":"10.1016\/j.anl.2021.08.003_bib0007","doi-asserted-by":"crossref","first-page":"e00150","DOI":"10.1002\/rcr2.150","article-title":"Primary ciliary dyskinesia with complex abnormalities including cleavage of B-subfibers","volume":"4","author":"Orimo","year":"2016","journal-title":"Respirol Case Rep"},{"key":"10.1016\/j.anl.2021.08.003_bib0008","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.anl.2017.09.007","article-title":"A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia","volume":"45","author":"Takeuchi","year":"2018","journal-title":"Auris Nasus Larynx"},{"key":"10.1016\/j.anl.2021.08.003_bib0009","doi-asserted-by":"crossref","DOI":"10.1136\/jmedgenet-2019-106501","article-title":"Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort","volume":"57","author":"Fassad","year":"2020","journal-title":"J Med Genet"},{"key":"10.1016\/j.anl.2021.08.003_bib0010","doi-asserted-by":"crossref","first-page":"e838","DOI":"10.1002\/mgg3.838","article-title":"Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients","volume":"7","author":"Morimoto","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.anl.2021.08.003_bib0011","doi-asserted-by":"crossref","first-page":"e1033","DOI":"10.1002\/mgg3.1033","article-title":"Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection","volume":"8","author":"Keicho","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.anl.2021.08.003_bib0012","doi-asserted-by":"crossref","first-page":"e1137","DOI":"10.1002\/mgg3.1137","article-title":"Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population","volume":"8","author":"Takeuchi","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.anl.2021.08.003_bib0013","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s12890-019-0897-4","article-title":"Primary ciliary dyskinesia in Japan: systematic review and meta-analysis","volume":"19","author":"Inaba","year":"2019","journal-title":"BMC Pulm Med"},{"key":"10.1016\/j.anl.2021.08.003_bib0014","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00725-2019","article-title":"International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)","volume":"55","author":"Shoemark","year":"2020","journal-title":"Eur Respir J"},{"key":"10.1016\/j.anl.2021.08.003_bib0015","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1164\/rccm.200406-710ST","article-title":"ATS\/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005","volume":"171","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.anl.2021.08.003_bib0016","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1183\/09031936.99.13614069","article-title":"Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia","volume":"13","author":"Karadag","year":"1999","journal-title":"Eur Respir J"},{"key":"10.1016\/j.anl.2021.08.003_bib0017","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0272-5231(21)00590-6","article-title":"Immotile cilia syndrome (primary ciliary dyskinesia) and inflammatory lung disease","volume":"9","author":"Rubin","year":"1988","journal-title":"Clin Chest Med"},{"key":"10.1016\/j.anl.2021.08.003_bib0018","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1183\/13993003.01551-2015","article-title":"PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia","volume":"47","author":"Behan","year":"2016","journal-title":"Eur Respir J"},{"key":"10.1016\/j.anl.2021.08.003_bib0019","first-page":"183","article-title":"Staging in rhinosinusitis","volume":"31","author":"Lund","year":"1993","journal-title":"Rhinology"},{"key":"10.1016\/j.anl.2021.08.003_bib0020","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1183\/09031936.00068810","article-title":"Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia","volume":"37","author":"Pifferi","year":"2011","journal-title":"Eur Respir J"},{"key":"10.1016\/j.anl.2021.08.003_bib0021","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01181-2016","article-title":"The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results","volume":"49","author":"Goutaki","year":"2017","journal-title":"Eur Respir J"},{"key":"10.1016\/j.anl.2021.08.003_bib0022","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1183\/09031936.00001010","article-title":"Factors influencing age at diagnosis of primary ciliary dyskinesia in European children","volume":"36","author":"Kuehni","year":"2010","journal-title":"Eur Respir J"},{"key":"10.1016\/j.anl.2021.08.003_bib0023","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01090-2016","article-title":"European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia","volume":"49","author":"Lucas","year":"2017","journal-title":"Eur Respir J"},{"key":"10.1016\/j.anl.2021.08.003_bib0024","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.anl.2021.08.003_bib0025","doi-asserted-by":"crossref","first-page":"e451","DOI":"10.1097\/MAO.0000000000001599","article-title":"Analysis of otologic features of patients with primary ciliary dyskinesia","volume":"38","author":"Takeuchi","year":"2017","journal-title":"Otol Neurotol"},{"key":"10.1016\/j.anl.2021.08.003_bib0026","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1177\/1945892420933175","article-title":"Sinus development and pneumatization in a primary ciliary dyskinesia cohort","volume":"35","author":"Pappa","year":"2021","journal-title":"Am J Rhinol Allergy"},{"key":"10.1016\/j.anl.2021.08.003_bib0027","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1016\/j.ijporl.2015.06.007","article-title":"Lund-Mackay and modified Lund-Mackay score for sinus surgery in children with cystic fibrosis","volume":"79","author":"Do","year":"2015","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"10.1016\/j.anl.2021.08.003_bib0028","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1177\/0194599819874842","article-title":"Rhinosinusitis in pediatric primary ciliary dyskinesia: impact of disease","volume":"161","author":"Bhatt","year":"2019","journal-title":"Otolaryngol Head Neck Surg"}],"container-title":["Auris Nasus Larynx"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0385814621002248?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0385814621002248?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:38:04Z","timestamp":1759952284000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0385814621002248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["S0385814621002248"],"URL":"https:\/\/doi.org\/10.1016\/j.anl.2021.08.003","relation":{},"ISSN":["0385-8146"],"issn-type":[{"value":"0385-8146","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia","name":"articletitle","label":"Article Title"},{"value":"Auris Nasus Larynx","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.anl.2021.08.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Japanese Society of Otorhinolaryngology-Head and Neck Surgery, Inc. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}