{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T19:16:07Z","timestamp":1777922167493,"version":"3.51.4"},"reference-count":41,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Lymphatic Research and Biology"],"published-print":{"date-parts":[[2022,10,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Expressed by endothelial cells,\n                      <jats:italic toggle=\"yes\">CDH5<\/jats:italic>\n                      is a cadherin involved in vascular morphogenesis and in the maintenance of vascular integrity and lymphatic function. The main purpose of our study was to identify distinct variants of the\n                      <jats:italic toggle=\"yes\">CDH5<\/jats:italic>\n                      gene that could be associated with lymphatic malformations and predisposition for lymphedema.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results:<\/jats:title>\n                    <jats:p>\n                      We performed Next Generation Sequencing of the\n                      <jats:italic toggle=\"yes\">CDH5<\/jats:italic>\n                      gene in 235 Italian patients diagnosed with lymphedema but who tested negative for variants in known lymphedema genes. We detected six different variants in\n                      <jats:italic toggle=\"yes\">CDH5<\/jats:italic>\n                      five missense and one nonsense. We also tested available family members of the probands. For family members who carried the same variant as the proband, we performed lymphoscintigraphy to detect any lymphatic system abnormalities. Variants were modeled in silico. The results showed that\n                      <jats:italic toggle=\"yes\">CDH5<\/jats:italic>\n                      variants may contribute to the onset of lymphedema, although further in vitro studies are needed to confirm this hypothesis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Based on our findings, we propose\n                      <jats:italic toggle=\"yes\">CDH5<\/jats:italic>\n                      as a new gene that could be screened in patients with lymphedema to gather additional evidence.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/lrb.2020.0089","type":"journal-article","created":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T12:27:42Z","timestamp":1639052862000},"page":"496-506","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["<i>CDH5<\/i>\n                    , a Possible New Candidate Gene for Genetic Testing of Lymphedema"],"prefix":"10.1177","volume":"20","author":[{"given":"Sandro","family":"Michelini","sequence":"first","affiliation":[{"name":"Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Ricci","sequence":"additional","affiliation":[{"name":"Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ancona, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Amato","sequence":"additional","affiliation":[{"name":"Department of General and Geriatric Surgery, University of Naples \u201cFederico II\u201d, Naples, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Gentileschi","sequence":"additional","affiliation":[{"name":"Plastic Surgery Department, Centre for Surgical Treatment of Lymphedema, Fondazione Policlinico Universitario A. Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1965-160X","authenticated-orcid":false,"given":"Dominika","family":"Veselenyiova","sequence":"additional","affiliation":[{"name":"MAGI Euregio, Bolzano, Italy."},{"name":"Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius in Trnava, Trnava, Slovakia."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sercan","family":"Kenanoglu","sequence":"additional","affiliation":[{"name":"MAGI Euregio, Bolzano, Italy."},{"name":"Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Fiorentino","sequence":"additional","affiliation":[{"name":"Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danjela","family":"Kurti","sequence":"additional","affiliation":[{"name":"MAGI Euregio, Bolzano, Italy."},{"name":"MAGI-Balkan, Tirana, Albania."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirko","family":"Baglivo","sequence":"additional","affiliation":[{"name":"MAGI Euregio, Bolzano, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Manara","sequence":"additional","affiliation":[{"name":"MAGI Euregio, Bolzano, Italy."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed Hussain","family":"Basha","sequence":"additional","affiliation":[{"name":"Innovative Informatica Technologies, Hyderabad, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sasi","family":"Priya","sequence":"additional","affiliation":[{"name":"Innovative Informatica Technologies, Hyderabad, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juraj","family":"Krajcovic","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Natural Sciences, University of Ss. 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