{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T11:09:09Z","timestamp":1762340949219},"reference-count":20,"publisher":"Spandidos Publications","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.3892\/mmr.2016.5871","type":"journal-article","created":{"date-parts":[[2016,10,21]],"date-time":"2016-10-21T07:03:20Z","timestamp":1477033400000},"page":"5077-5083","source":"Crossref","is-referenced-by-count":18,"title":["Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia"],"prefix":"10.3892","volume":"14","author":[{"given":"Gen","family":"Kano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisashi","family":"Tsujii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Takeuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaname","family":"Nakatani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Ikejiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisami","family":"Kubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mizuho","family":"Nagao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takao","family":"Fujisawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2016,10,21]]},"reference":[{"key":"key20180108031011_b1-mmr-14-06-5077","first-page":"3943","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Afzelius","year":"1995"},{"key":"key20180108031011_b2-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s00405-010-1341-9","article-title":"ENT manifestations in patients with primary ciliary dyskinesia: Prevalence and significance of otorhinolaryngologic co-morbidities","volume":"268","author":"Sommer","year":"2011","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"key20180108031011_b3-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1183\/09031936.97.10102376","article-title":"Longitudinal study of lung function in a cohort of primary ciliary dyskinesia","volume":"10","author":"Ellerman","year":"1997","journal-title":"Eur Respir J"},{"key":"key20180108031011_b4-mmr-14-06-5077","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":"key20180108031011_b5-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1002\/ppul.22520","article-title":"Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia","volume":"47","author":"Djakow","year":"2012","journal-title":"Pediatr Pulmonol"},{"key":"key20180108031011_b6-mmr-14-06-5077","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":"key20180108031011_b7-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1136\/thorax.57.7.586","article-title":"Nitric oxide in chronic airway inflammation in children: Diagnostic use and pathophysiological significance","volume":"57","author":"Narang","year":"2002","journal-title":"Thorax"},{"key":"key20180108031011_b8-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1164\/rccm.200601-084OC","article-title":"DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects","volume":"174","author":"Hornef","year":"2006","journal-title":"Am J Respir Crit Care Med"},{"key":"key20180108031011_b9-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1164\/rccm.200603-370OC","article-title":"Mutations of DNAI1 in primary ciliary dyskinesia: Evidence of founder effect in a common mutation","volume":"174","author":"Zariwala","year":"2006","journal-title":"Am J Respir Crit Care Med"},{"key":"key20180108031011_b10-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1164\/rccm.201409-1672OC","article-title":"Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype","volume":"191","author":"Davis","year":"2015","journal-title":"Am J Respir Crit Care Med"},{"key":"key20180108031011_b11-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1378\/chest.07-2812","article-title":"Structural and functional lung disease in primary ciliary dyskinesia","volume":"134","author":"Santamaria","year":"2008","journal-title":"Chest"},{"key":"key20180108031011_b12-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1164\/rccm.201301-0059CI","article-title":"Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease","volume":"188","author":"Knowles","year":"2013","journal-title":"Am J Respir Crit Care Med"},{"key":"key20180108031011_b13-mmr-14-06-5077","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":"key20180108031011_b14-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2008.061176","article-title":"Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia","volume":"46","author":"Failly","year":"2009","journal-title":"J Med Genet"},{"key":"key20180108031011_b15-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1165\/ajrcmb.23.5.4257","article-title":"Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene","volume":"23","author":"Omran","year":"2000","journal-title":"Am J Respir Cell Mol Biol"},{"key":"key20180108031011_b16-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng817","article-title":"Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry","volume":"30","author":"Olbrich","year":"2002","journal-title":"Nat Genet"},{"key":"key20180108031011_b17-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1007\/s00795-014-0079-7","article-title":"A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome","volume":"48","author":"Tate","year":"2015","journal-title":"Med Mol Morphol"},{"key":"key20180108031011_b18-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1007\/s00405-013-2788-2","article-title":"A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family","volume":"271","author":"Zhang","year":"2014","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"key20180108031011_b19-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: Mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"key20180108031011_b20-mmr-14-06-5077","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"}],"container-title":["Molecular Medicine Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/mmr.2016.5871\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,10]],"date-time":"2022-07-10T22:31:48Z","timestamp":1657492308000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/mmr.2016.5871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,21]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2016,10,21]]},"published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.3892\/mmr.2016.5871"],"URL":"https:\/\/doi.org\/10.3892\/mmr.2016.5871","relation":{},"ISSN":["1791-2997","1791-3004"],"issn-type":[{"value":"1791-2997","type":"print"},{"value":"1791-3004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,21]]}}}