{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T06:49:17Z","timestamp":1793688557237,"version":"4.5.1"},"reference-count":33,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T00:00:00Z","timestamp":1600214400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009890","name":"Provincia Autonoma di Trento","doi-asserted-by":"publisher","award":["LP 6\/99 (dgp 1045\/2017)"],"award-info":[{"award-number":["LP 6\/99 (dgp 1045\/2017)"]}],"id":[{"id":"10.13039\/501100009890","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>TIE1 is a cell surface protein expressed in endothelial cells. Involved in angiogenesis and lymphangiogenesis, including morphogenesis of lymphatic valves, TIE1 is important for lymphatic system functional integrity. The main purpose of this study was to identify different variants in the TIE1 gene that could be associated with lymphatic malformations or dysfunction and predisposition for lymphedema. In a cohort of 235 Italian lymphedema patients, who tested negative for variants in known lymphedema genes, we performed a further test for new candidate genes, including TIE1. Three probands carried different variants in TIE1. Two of these segregated with lymphedema or lymphatic dysfunction in familial cases. Variants in TIE1 could contribute to the onset of lymphedema. On the basis of our findings, we propose TIE1 as a candidate gene for comprehensive genetic testing of lymphedema.<\/jats:p>","DOI":"10.3390\/ijms21186780","type":"journal-article","created":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T10:30:12Z","timestamp":1600252212000},"page":"6780","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0346-9528","authenticated-orcid":false,"given":"Sandro","family":"Michelini","sequence":"first","affiliation":[{"name":"Department of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Ricci","sequence":"additional","affiliation":[{"name":"Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, 60126 Ancona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1965-160X","authenticated-orcid":false,"given":"Dominika","family":"Veselenyiova","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius In Trnava, 91701 Trnava, Slovakia"},{"name":"MAGI Euregio, 39100 Bolzano, BZ, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2239-0209","authenticated-orcid":false,"given":"Sercan","family":"Kenanoglu","sequence":"additional","affiliation":[{"name":"MAGI Euregio, 39100 Bolzano, BZ, Italy"},{"name":"Department of Medical Genetics, Faculty of Medicine, Erciyes University, 38039 Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danjela","family":"Kurti","sequence":"additional","affiliation":[{"name":"MAGI Euregio, 39100 Bolzano, BZ, Italy"},{"name":"MAGI-Balkan, 1019 Tirana, Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirko","family":"Baglivo","sequence":"additional","affiliation":[{"name":"MAGI Euregio, 39100 Bolzano, BZ, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Fiorentino","sequence":"additional","affiliation":[{"name":"Department of Vascular Rehabilitation, San Giovanni Battista Hospital, 00148 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7340-903X","authenticated-orcid":false,"given":"Syed Hussain","family":"Basha","sequence":"additional","affiliation":[{"name":"Innovative Informatica Technologies, Hyderabad 500 049, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sasi","family":"Priya","sequence":"additional","affiliation":[{"name":"Innovative Informatica Technologies, Hyderabad 500 049, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Serrani","sequence":"additional","affiliation":[{"name":"Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, 60126 Ancona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juraj","family":"Krajcovic","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius In Trnava, 91701 Trnava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0969-4611","authenticated-orcid":false,"given":"Munis","family":"Dundar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Erciyes University, 38039 Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6385-3444","authenticated-orcid":false,"given":"Astrit","family":"Dautaj","sequence":"additional","affiliation":[{"name":"MAGI-Balkan, 1019 Tirana, Albania"},{"name":"EBTNA-Lab, 38068 Rovereto, TN, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9552-221X","authenticated-orcid":false,"given":"Matteo","family":"Bertelli","sequence":"additional","affiliation":[{"name":"MAGI Euregio, 39100 Bolzano, BZ, Italy"},{"name":"EBTNA-Lab, 38068 Rovereto, TN, Italy"},{"name":"MAGI\u2019s Lab, 38068 Rovereto, TN, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,16]]},"reference":[{"key":"ref_1","first-page":"1698","article-title":"A novel endothelial cell surface receptor tyrosine kinase with extracellular epidermal growth factor homology domains","volume":"12","author":"Partanen","year":"1992","journal-title":"Mol. 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