| http://purl.uniprot.org/citations/34887573 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34887573 | http://www.w3.org/2000/01/rdf-schema#comment | "Intracranial aneurysm (IA) rupture leads to subarachnoid hemorrhage, a sudden-onset disease that often causes death or severe disability. Although genome-wide association studies have identified common genetic variants that increase IA risk moderately, the contribution of variants with large effect remains poorly defined. Using whole-exome sequencing, we identified significant enrichment of rare, deleterious mutations in PPIL4, encoding peptidyl-prolyl cis-trans isomerase-like 4, in both familial and index IA cases. Ppil4 depletion in vertebrate models causes intracerebral hemorrhage, defects in cerebrovascular morphology and impaired Wnt signaling. Wild-type, but not IA-mutant, PPIL4 potentiates Wnt signaling by binding JMJD6, a known angiogenesis regulator and Wnt activator. These findings identify a novel PPIL4-dependent Wnt signaling mechanism involved in brain-specific angiogenesis and maintenance of cerebrovascular integrity and implicate PPIL4 gene mutations in the pathogenesis of IA."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41591-021-01572-7"xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Dong W."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Bilguvar K."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Gunel M."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Cox A."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Lifton R.P."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Jin S.C."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Nelson-Williams C."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Khokha M.K."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Louvi A."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Nicoli S."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Yasuno K."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Coskun S."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Rai D.K."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Ercan-Sencicek A.G."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Kahle K.T."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Erson-Omay E.Z."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Henegariu O."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Prendergast A."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Guy M."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Mishra-Gorur K."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Barak T."xsd:string |
| http://purl.uniprot.org/citations/34887573 | http://purl.uniprot.org/core/author | "Ozturk A.K."xsd:string |