{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T21:31:05Z","timestamp":1792186265567,"version":"4.4.0"},"reference-count":25,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair\u2010like organelles protruding out of the cell. Thus far, disease causing variants in over 50 genes have been identified and these variants explain around 70% of all known cases. Population specific genetics underlying PCD has been reported highlighting the importance of characterizing gene variants in different populations for development of gene\u2010based diagnostics and management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Whole exome sequencing was used to identify disease causing variants in Finnish PCD cohort. The effect of the identified\n                      <jats:italic>HYDIN<\/jats:italic>\n                      variants on cilia structure and function was confirmed by high\u2010speed video analysis, immunofluorescence and electron tomography.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In this study, we identified three Finnish PCD patients carrying homozygous loss\u2010of\u2010function variants and one patient with compound heterozygous variants within\n                      <jats:italic>HYDIN<\/jats:italic>\n                      . The functional studies showed defects in the axonemal central pair complex. All patients had clinical PCD symptoms including chronic wet cough and recurrent airway infections, associated with mostly static airway cilia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our results are consistent with the previously identified important role of HYDIN in the axonemal central pair complex and improve specific diagnostics of PCD in different national populations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.27267","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T07:32:18Z","timestamp":1726644738000},"page":"3601-3609","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>HYDIN<\/i>\n                    variants cause primary ciliary dyskinesia in the Finnish population"],"prefix":"10.1002","volume":"59","author":[{"given":"Thomas","family":"Burgoyne","sequence":"first","affiliation":[{"name":"Institute of Ophthalmology University College London London UK"},{"name":"PCD Diagnostic Team and Department of Paediatric Respiratory Medicine Royal Brompton Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud R.","family":"Fassad","sequence":"additional","affiliation":[{"name":"Great Ormond Street Institute of Child Health University College London London UK"},{"name":"Human Genetics Department, Medical Research Institute Alexandria University Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00fcdiger","family":"Schultz","sequence":"additional","affiliation":[{"name":"Allergy Centre Tampere University Hospital Tampere Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varpu","family":"Elenius","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Turku University Hospital University of Turku Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline S. Y.","family":"Lim","sequence":"additional","affiliation":[{"name":"Great Ormond Street Institute of Child Health University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Freke","sequence":"additional","affiliation":[{"name":"Great Ormond Street Institute of Child Health University College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranjit","family":"Rai","sequence":"additional","affiliation":[{"name":"PCD Diagnostic Team and Department of Paediatric Respiratory Medicine Royal Brompton Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai A.","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Great Ormond Street Institute of Child Health University College London London UK"},{"name":"Biochemistry Department, Faculty of Science Zagazig University Zagazig Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah 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