| http://purl.uniprot.org/citations/29961568 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29961568 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29961568 | http://www.w3.org/2000/01/rdf-schema#comment | "Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. WASF1, also known as WAVE1, is part of the WAVE complex and acts as a mediator between Rac-GTPase and actin to induce actin polymerization. The three mutations connected by Matchmaker Exchange were c.1516C>T (p.Arg506Ter), which occurs in three unrelated individuals, c.1558C>T (p.Gln520Ter), and c.1482delinsGCCAGG (p.Ile494MetfsTer23). All three variants are predicted to partially or fully disrupt the C-terminal actin-binding WCA domain. Functional studies using fibroblast cells from two affected individuals with the c.1516C>T mutation showed a truncated WASF1 and a defect in actin remodeling. This study provides evidence that de novo heterozygous mutations in WASF1 cause a rare form of intellectual disability."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2018.06.001"xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2018.06.001"xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Ito Y."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Ito Y."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Keren B."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Keren B."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Nava C."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Nava C."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Boycott K.M."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Boycott K.M."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Hartley T."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Hartley T."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Kernohan K.D."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Kernohan K.D."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Pfundt R."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Pfundt R."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "van Bokhoven H."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "van Bokhoven H."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Carss K.J."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Carss K.J."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Charles P."xsd:string |
| http://purl.uniprot.org/citations/29961568 | http://purl.uniprot.org/core/author | "Charles P."xsd:string |