{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T20:43:06Z","timestamp":1792442586184,"version":"4.5.0"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["FP7-LUPA"],"award-info":[{"award-number":["FP7-LUPA"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","award":["GA-201370"],"award-info":[{"award-number":["GA-201370"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002661","name":"Fonds de la Recherche Scientifique","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002661","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Primary ciliary dyskinesia (PCD) is generally a recessively inherited disorder characterized by dysfunction of motile cilia. A mutation in a new causative gene (CCDC39) has been identified in the Old English Sheepdog (OES).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe the clinical findings and the molecular changes of affected dogs and estimate the worldwide prevalence of the mutation in a large cohort of OES.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>578 OES, including 28 affected and 550 clinically healthy dogs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This retrospective study reviewed the data of OES diagnosed with PCD and OES tested for the mutation. Clinical data including results of physical examination and further investigations were obtained on 11\/28 dogs. CCDC39 expression was assessed by qRT-PCR and Western blot analysis in affected dogs and healthy dogs. DNA was extracted on 561\/578 dogs and a genetic test by Taqman technology was developed to genotype the CCDC39 mutation in these dogs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Clinical findings were recurrent nasal discharge and cough, pyrexia, leucocytosis, and bronchopneumonia. Ultrastructural defects were characterized by central microtubular abnormalities and decreased number of inner dynein arms (IDAs). Molecular analysis revealed a reduced expression of CCDC39 RNA and an absence of CCDC39 protein in affected dogs compared to healthy dogs. The mutation was more frequent in nonrandomly selected European OES population with a higher proportion of carriers (19%) compared to non-European dogs (7%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion and Clinical Importance<\/jats:title>\n                    <jats:p>CCDC39 mutation is dispersed in a worldwide population and is responsible for PCD in this breed. Genetic testing might enable control of this disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.12336","type":"journal-article","created":{"date-parts":[[2014,3,12]],"date-time":"2014-03-12T11:07:18Z","timestamp":1394622438000},"page":"771-778","source":"Crossref","is-referenced-by-count":21,"title":["Clinical Findings and Prevalence of the Mutation Associated with Primary Ciliary Dyskinesia in Old English Sheepdogs"],"prefix":"10.1093","volume":"28","author":[{"given":"A.-C.","family":"Merveille","sequence":"first","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Li\u00e8ge Department of Clinical Sciences, , Li\u00e8ge,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Battaille","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Li\u00e8ge Department of Clinical Sciences, , Li\u00e8ge,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Billen","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Li\u00e8ge Department of Clinical Sciences, , Li\u00e8ge,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Deleuze","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Li\u00e8ge Department of Clinical Sciences, , Li\u00e8ge,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Fredholm","sequence":"additional","affiliation":[{"name":"Faculty of Health and Medical Sciences, University of Copenhagen Department of Veterinary Clinical and Animal Sciences, , Frederiksberg,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Antagene, Animal Genetics Laboratory , Limonest,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Clercx","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Li\u00e8ge Department of Clinical Sciences, , Li\u00e8ge,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.-S.","family":"Lequarr\u00e9","sequence":"additional","affiliation":[{"name":"Faculty of Veterinary Medicine, University of Li\u00e8ge Department of Clinical Sciences, , Li\u00e8ge,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,5,1]]},"reference":[{"key":"2026020304382019300_jvim12336-bib-0001","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1146\/annurev.physiol.69.040705.141301","article-title":"Genetic defects in ciliary structure and function","volume":"69","author":"Zariwala","year":"2007","journal-title":"Annu Rev Physiol"},{"key":"2026020304382019300_jvim12336-bib-0002","doi-asserted-by":"crossref","first-page":"R27","DOI":"10.1093\/hmg\/ddg061","article-title":"To beat or not to beat: Roles of cilia in development and disease","volume":"12","author":"Ibanez-Tallon","year":"2003","journal-title":"Hum Mol Genet"},{"key":"2026020304382019300_jvim12336-bib-0003","doi-asserted-by":"crossref","first-page":"1681","DOI":"10.2460\/javma.2000.217.1681","article-title":"Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog","volume":"217","author":"Clercx","year":"2000","journal-title":"J Am Vet Med Assoc"},{"key":"2026020304382019300_jvim12336-bib-0004","first-page":"291","article-title":"Primary ciliary dyskinesia in the dog","volume":"4","author":"Edwards","year":"1992","journal-title":"Probl Vet Med"},{"key":"2026020304382019300_jvim12336-bib-0005","doi-asserted-by":"crossref","first-page":"150","DOI":"10.4102\/jsava.v75i3.471","article-title":"Primary ciliary dyskinesia in a Staffordshire Bull Terrier","volume":"75","author":"De Scally","year":"2004","journal-title":"J S Afr Vet Assoc"},{"key":"2026020304382019300_jvim12336-bib-0006","doi-asserted-by":"crossref","first-page":"45","DOI":"10.5326\/0380045","article-title":"Kartagener's syndrome in a Dachshund dog","volume":"38","author":"Neil","year":"2002","journal-title":"J Am Anim Hosp Assoc"},{"key":"2026020304382019300_jvim12336-bib-0007","first-page":"484","article-title":"Primary ciliary dyskinesia in Newfoundland dogs","volume":"143","author":"Watson","year":"1998","journal-title":"Vet Rec"},{"key":"2026020304382019300_jvim12336-bib-0008","doi-asserted-by":"crossref","first-page":"197","DOI":"10.2460\/javma.232.2.197","article-title":"What is your diagnosis? 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