{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:42Z","timestamp":1790768922332,"version":"4.1.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"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":[[2019,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disease caused by mutations in over 40 different genes. Individuals with PCD caused by mutations in RSPH1 (radial spoke head 1 homolog) have been reported to have a milder phenotype than other individuals with PCD, as evidenced by a lower incidence of neonatal respiratory distress, higher nasal nitric oxide concentrations, and better lung function. To better understand genotype\u2013phenotype relationships in PCD, we have characterized a mutant mouse model with a deletion of Rsph1. Approximately 50% of cilia from Rsph1\u2212\/\u2212 cells appeared normal by transmission EM, whereas the remaining cilia revealed a range of defects, primarily transpositions or a missing central pair. Ciliary beat frequency in Rsph1\u2212\/\u2212 cells was significantly lower than in control cells (20.2\u2009\u00b1\u20090.8 vs. 25.0\u2009\u00b1\u20090.9 Hz), and the cilia exhibited an aberrant rotational waveform. Young Rsph1\u2212\/\u2212 animals demonstrated a low rate of mucociliary clearance in the nasopharynx that was reduced to zero by about 1 month of age. Rsph1\u2212\/\u2212 animals accumulated mucus in the nasal cavity but had a lower bacterial burden than animals with a deletion of dynein axonemal intermediate chain 1 (Dnaic1\u2212\/\u2212). Thus, Rsph1\u2212\/\u2212 mice display a PCD phenotype similar to but less severe than that observed in Dnaic1\u2212\/\u2212 mice, similar to what has been observed in humans. The results suggest that some individuals with PCD may not have a complete loss of mucociliary clearance and further suggest that early diagnosis and intervention may be important to maintain this low amount of clearance.<\/jats:p>","DOI":"10.1165\/rcmb.2017-0387oc","type":"journal-article","created":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T16:55:50Z","timestamp":1553187350000},"page":"312-321","source":"Crossref","is-referenced-by-count":23,"title":["Mice with a Deletion of\n                    <i>Rsph1<\/i>\n                    Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype"],"prefix":"10.1093","volume":"61","author":[{"given":"Weining","family":"Yin","sequence":"first","affiliation":[{"name":"Marsico Lung Institute\/Cystic Fibrosis Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Livraghi-Butrico","sequence":"additional","affiliation":[{"name":"Marsico Lung Institute\/Cystic Fibrosis Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick R.","family":"Sears","sequence":"additional","affiliation":[{"name":"Marsico Lung Institute\/Cystic Fibrosis Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Troy D.","family":"Rogers","sequence":"additional","affiliation":[{"name":"Marsico Lung Institute\/Cystic Fibrosis Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberlie A.","family":"Burns","sequence":"additional","affiliation":[{"name":"Marsico Lung Institute\/Cystic Fibrosis Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara R.","family":"Grubb","sequence":"additional","affiliation":[{"name":"Marsico Lung Institute\/Cystic Fibrosis Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence E.","family":"Ostrowski","sequence":"additional","affiliation":[{"name":"Marsico Lung Institute\/Cystic Fibrosis Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,9,1]]},"reference":[{"key":"2026021100385299200_bib1","article-title":"Primary ciliary 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