| http://purl.uniprot.org/citations/12954984 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12954984 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12954984 | http://www.w3.org/2000/01/rdf-schema#comment | "Approximately 3-10% of people have specific difficulties in reading, despite adequate intelligence, education, and social environment. We report here the characterization of a gene, DYX1C1 near the DYX1 locus in chromosome 15q21, that is disrupted by a translocation t(2;15)(q11;q21) segregating coincidentally with dyslexia. Two sequence changes in DYX1C1, one involving the translation initiation sequence and an Elk-1 transcription factor binding site (-3G --> A) and a codon (1249G --> T), introducing a premature stop codon and truncating the predicted protein by 4 aa, associate alone and in combination with dyslexia. DYX1C1 encodes a 420-aa protein with three tetratricopeptide repeat (TPR) domains, thought to be protein interaction modules, but otherwise with no homology to known proteins. The mouse Dyx1c1 protein is 78% identical to the human protein, and the nonhuman primates differ at 0.5-1.4% of residues. DYX1C1 is expressed in several tissues, including the brain, and the protein resides in the nucleus. In human brain, DYX1C1 protein localizes to a fraction of cortical neurons and white matter glial cells. We conclude that DYX1C1 should be regarded as a candidate gene for developmental dyslexia. Detailed study of its function may open a path to understanding a complex process of development and maturation of the human brain."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1833911100"xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1833911100"xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Kere J."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Kere J."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Haltia T."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Haltia T."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Muller K."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Muller K."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Taipale M."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Taipale M."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Hannula-Jouppi K."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Hannula-Jouppi K."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Kaaranen M."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Kaaranen M."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Kaminen N."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Kaminen N."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Lindsberg P.J."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Lindsberg P.J."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Lyytinen H."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Lyytinen H."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Myllyluoma B."xsd:string |
| http://purl.uniprot.org/citations/12954984 | http://purl.uniprot.org/core/author | "Myllyluoma B."xsd:string |