| http://purl.uniprot.org/citations/26115622 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26115622 | http://www.w3.org/2000/01/rdf-schema#comment | "Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the youngest is symptomatic. Bioinformatics tools showed this novel variant causes a loss of function in Pdcd10 protein due to its localization in the eighth helix and, particularly, affects Leu141, a highly conserved amino acid. Roles of Pdcd10 in angiogenesis regulation and its association with early development of cerebral cavernous malformations were also considered."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.org/dc/terms/identifier | "doi:10.1007/s12031-015-0606-6"xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/author | "Bramanti P."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/author | "Ruggeri A."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/author | "D'Angelo R."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/author | "Donato L."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/author | "Sidoti A."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/author | "Katsarou Z."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/author | "Scimone C."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/name | "J Mol Neurosci"xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/pages | "400-403"xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/title | "Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations."xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://purl.uniprot.org/core/volume | "57"xsd:string |
| http://purl.uniprot.org/citations/26115622 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26115622 |
| http://purl.uniprot.org/citations/26115622 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26115622 |
| http://purl.uniprot.org/uniprot/#_C9J363-mappedCitation-26115622 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26115622 |
| http://purl.uniprot.org/uniprot/#_Q9BUL8-mappedCitation-26115622 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26115622 |
| http://purl.uniprot.org/uniprot/Q9BUL8 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/26115622 |
| http://purl.uniprot.org/uniprot/C9J363 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/26115622 |