{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T08:52:08Z","timestamp":1789548728701,"version":"build-2803163510"},"reference-count":38,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T00:00:00Z","timestamp":1605571200000},"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":["dgp 1045\/2017"],"award-info":[{"award-number":["dgp 1045\/2017"]}],"id":[{"id":"10.13039\/501100009890","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Neuropilins are transmembrane coreceptors expressed by endothelial cells and neurons. NRP1 and NRP2 bind a variety of ligands, by which they trigger cell signaling, and are important in the development of lymphatic valves and lymphatic capillaries, respectively. This study focuses on identifying rare variants in the NRP1 and NRP2 genes that could be linked to the development of lymphatic malformations in patients diagnosed with lymphedema. Two hundred and thirty-five Italian lymphedema patients, who tested negative for variants in known lymphedema genes, were screened for variants in NRP1 and NRP2. Two probands carried variants in NRP1 and four in NRP2. The variants of both genes segregated with lymphedema in familial cases. Although further functional and biochemical studies are needed to clarify their involvement with lymphedema and to associate NRP1 and NRP2 with lymphedema, we suggest that it is worthwhile also screening lymphedema patients for these two new candidate genes.<\/jats:p>","DOI":"10.3390\/genes11111361","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T11:02:12Z","timestamp":1605610932000},"page":"1361","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema"],"prefix":"10.3390","volume":"11","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":"Bruno","family":"Amato","sequence":"additional","affiliation":[{"name":"Department of General and Geriatric Surgery, University of Naples \u201cFederico II\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Ricci","sequence":"additional","affiliation":[{"name":"Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, 60126 Ospedali Riuniti di Ancona, 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, Italy"},{"name":"Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri 38039, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1965-160X","authenticated-orcid":false,"given":"Dominika","family":"Veselenyiova","sequence":"additional","affiliation":[{"name":"MAGI Euregio, 39100 Bolzano, Italy"},{"name":"Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius in Trnava, 91701 Trnava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danjela","family":"Kurti","sequence":"additional","affiliation":[{"name":"MAGI Euregio, 39100 Bolzano, Italy"},{"name":"MAGI-Balkan, Tirana 1019, Albania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirko","family":"Baglivo","sequence":"additional","affiliation":[{"name":"MAGI Euregio, 39100 Bolzano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1176-3359","authenticated-orcid":false,"given":"Elena","family":"Manara","sequence":"additional","affiliation":[{"name":"MAGI Euregio, 39100 Bolzano, Italy"}],"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, Kayseri 38039, Turkey"}],"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\/0000-0002-7340-903X","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, 60126 Ospedali Riuniti di Ancona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacinto A. D.","family":"Miggiano","sequence":"additional","affiliation":[{"name":"UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"},{"name":"Centro di Ricerche in Nutrizione Umana, Universit\u00e0 Cattolica Sacro Cuore, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Aquilanti","sequence":"additional","affiliation":[{"name":"UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Matera","sequence":"additional","affiliation":[{"name":"UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Velluti","sequence":"additional","affiliation":[{"name":"UOC Nutrizione Clinica, Fondazione Policlinico Universitario A. 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