{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:36:21Z","timestamp":1791999381107,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,1,31]],"date-time":"2018-01-31T00:00:00Z","timestamp":1517356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000871","name":"Newlife Foundation for Disabled Children","doi-asserted-by":"publisher","award":["12\u201013\/01"],"award-info":[{"award-number":["12\u201013\/01"]}],"id":[{"id":"10.13039\/501100000871","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["SP13\/5\/30288"],"award-info":[{"award-number":["SP13\/5\/30288"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Physiology"],"published-print":{"date-parts":[[2018,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive generalised lymphatic dysplasia of Fotiou (GLDF) and autosomal dominant dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and\/or perinatal oedema (DHS). The two disorders show overlapping features, fetal hydrops\/perinatal oedema have been reported in both. Electrophysiological studies suggest opposite mechanisms of action: the mutations identified in GLDF patients cause a loss\u2010of\u2010function mechanism of disease and mutations in DHS patients cause gain of function. This raises the question: Is the pathogenic disease mechanism behind the fetal oedema the same in the two phenotypes? In this Symposium Review, we will discuss the two conditions and highlight key questions that remain to be answered. For instance, the perinatal oedema often resolves soon after birth and we are still at a loss to understand why. Are there any mechanisms which could compensate for the faulty PIEZO1 in these patients? Are there physiological changes at birth that are less reliant on the function of PIEZO1? Thus, there is a clear need for further studies into the two disorders, in order to fully understand the role of PIEZO1 in health and disease.\n<jats:boxed-text content-type=\"graphic\" position=\"anchor\"><jats:graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" mimetype=\"image\/png\" position=\"anchor\" specific-use=\"enlarged-web-image\" xlink:href=\"graphic\/tjp12809-gra-0001-m.png\"><jats:alt-text>image<\/jats:alt-text><\/jats:graphic><\/jats:boxed-text><\/jats:p>","DOI":"10.1113\/jp275718","type":"journal-article","created":{"date-parts":[[2018,1,13]],"date-time":"2018-01-13T13:48:10Z","timestamp":1515851290000},"page":"985-992","source":"Crossref","is-referenced-by-count":53,"title":["Human phenotypes caused by <i>PIEZO1<\/i> mutations; one gene, two overlapping phenotypes?"],"prefix":"10.1113","volume":"596","author":[{"given":"Silvia","family":"Martin\u2010Almedina","sequence":"first","affiliation":[{"name":"Molecular and Clinical Sciences Institute St George's, University of London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[{"name":"South West Thames Regional Genetics Unit St George's, University of London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2190-1356","authenticated-orcid":false,"given":"Pia","family":"Ostergaard","sequence":"additional","affiliation":[{"name":"Molecular and Clinical Sciences Institute St George's, University of London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,31]]},"reference":[{"key":"e_1_2_2_2_1","article-title":"Dehydrated hereditary stomatocytosis linked to gain\u2010of\u2010function mutations in mechanically activated PIEZO1 ion channels","volume":"4","author":"Albuisson J","year":"2013","journal-title":"Nat 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