| http://purl.uniprot.org/citations/18179900 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18179900 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18179900 | http://www.w3.org/2000/01/rdf-schema#comment | "Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3. In the first, with karyotype 46,XX,ins(16;2)(q22.1;p16.1p16.3)pat, NRXN1 is directly disrupted within intron 5. Importantly, the father possesses the same chromosomal abnormality in the absence of ASD, indicating that the interruption of alpha-NRXN1 is not fully penetrant and must interact with other factors to produce ASD. The breakpoint in the second subject, with 46,XY,t(1;2)(q31.3;p16.3)dn, occurs approximately 750 kb 5' to NRXN1 within a 2.6 Mb genomic segment that harbors no currently annotated genes. A scan of the NRXN1 coding sequence in a cohort of ASD subjects, relative to non-ASD controls, revealed that amino acid alterations in neurexin 1 are not present at high frequency in ASD. However, a number of rare sequence variants in the coding region, including two missense changes in conserved residues of the alpha-neurexin 1 leader sequence and of an epidermal growth factor (EGF)-like domain, respectively, suggest that even subtle changes in NRXN1 might contribute to susceptibility to ASD."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2007.09.011"xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2007.09.011"xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Daly M.J."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Daly M.J."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Shen Y."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Shen Y."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Gusella J.F."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Gusella J.F."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Higgins A.W."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Higgins A.W."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Kim H.G."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Kim H.G."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Morton C.C."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Morton C.C."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Quade B.J."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Quade B.J."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Kaplan L."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Kaplan L."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Weiss L.A."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Weiss L.A."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Seong I.S."xsd:string |
| http://purl.uniprot.org/citations/18179900 | http://purl.uniprot.org/core/author | "Seong I.S."xsd:string |