| http://purl.uniprot.org/citations/26333996 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26333996 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26333996 | http://www.w3.org/2000/01/rdf-schema#comment | "Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in PIEZO1, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in PIEZO1, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms9085"xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms9085"xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Lin S."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Lin S."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Vogt J."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Vogt J."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Rees D.C."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Rees D.C."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Simpson M.A."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Simpson M.A."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Gordon K."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Gordon K."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Mignot C."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Mignot C."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Snyder M.P."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Snyder M.P."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Homfray T."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Homfray T."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Mansour S."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Mansour S."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Jeffery S."xsd:string |
| http://purl.uniprot.org/citations/26333996 | http://purl.uniprot.org/core/author | "Jeffery S."xsd:string |