| http://purl.uniprot.org/citations/18653847 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18653847 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18653847 | http://www.w3.org/2000/01/rdf-schema#comment | "Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes alpha2-chimaerin, a Rac guanosine triphosphatase-activating protein (RacGAP) signaling protein previously implicated in the pathfinding of corticospinal axons in mice. We found that these are gain-of-function mutations that increase alpha2-chimaerin RacGAP activity in vitro. Several of the mutations appeared to enhance alpha2-chimaerin translocation to the cell membrane or enhance its ability to self-associate. Expression of mutant alpha2-chimaerin constructs in chick embryos resulted in failure of oculomotor axons to innervate their target extraocular muscles. We conclude that alpha2-chimaerin has a critical developmental function in ocular motor axon pathfinding."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1156121"xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1156121"xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Cheng L."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Cheng L."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Ellard S."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Ellard S."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Allen J."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Allen J."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Crosier M."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Crosier M."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Sahin M."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Sahin M."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Zenteno J.C."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Zenteno J.C."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Miyake N."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Miyake N."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Engle E.C."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Engle E.C."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Cheung M."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Cheung M."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Chan W.-M."xsd:string |
| http://purl.uniprot.org/citations/18653847 | http://purl.uniprot.org/core/author | "Chan W.-M."xsd:string |