| http://purl.uniprot.org/citations/28368018 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28368018 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28368018 | http://www.w3.org/2000/01/rdf-schema#comment | "Human actin-related protein 2/3 complex (Arp2/3), required for actin filament branching, has two ARPC1 component isoforms, with ARPC1B prominently expressed in blood cells. Here we show in a child with microthrombocytopenia, eosinophilia and inflammatory disease, a homozygous frameshift mutation in ARPC1B (p.Val91Trpfs*30). Platelet lysates reveal no ARPC1B protein and greatly reduced Arp2/3 complex. Missense ARPC1B mutations are identified in an unrelated patient with similar symptoms and ARPC1B deficiency. ARPC1B-deficient platelets are microthrombocytes similar to those seen in Wiskott-Aldrich syndrome that show aberrant spreading consistent with loss of Arp2/3 function. Knockout of ARPC1B in megakaryocytic cells results in decreased proplatelet formation, and as observed in platelets from patients, increased ARPC1A expression. Thus loss of ARPC1B produces a unique set of platelet abnormalities, and is associated with haematopoietic/immune symptoms affecting cell lineages where this isoform predominates. In agreement with recent experimental studies, our findings suggest that ARPC1 isoforms are not functionally interchangeable."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms14816"xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.org/dc/terms/identifier | "doi:10.1038/ncomms14816"xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Chen C.H."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Chen C.H."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Li L."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Li L."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Li R."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Li R."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Li Q."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Li Q."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Pan J."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Pan J."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Upton J."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Upton J."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Muise A.M."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Muise A.M."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Elkadri A."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Elkadri A."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Brumell J.H."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Brumell J.H."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Cutz E."xsd:string |
| http://purl.uniprot.org/citations/28368018 | http://purl.uniprot.org/core/author | "Cutz E."xsd:string |