| http://purl.uniprot.org/citations/30397230 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30397230 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30397230 | http://www.w3.org/2000/01/rdf-schema#comment | "Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-018-06014-6"xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-018-06014-6"xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Anderson I.J."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Anderson I.J."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Brilstra E.H."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Brilstra E.H."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Campeau P.M."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Campeau P.M."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Koopmans M."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Koopmans M."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Lee S."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Lee S."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Kleefstra T."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Kleefstra T."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Keren B."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Keren B."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Nava C."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "Nava C."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "van Gassen K.L.I."xsd:string |
| http://purl.uniprot.org/citations/30397230 | http://purl.uniprot.org/core/author | "van Gassen K.L.I."xsd:string |