| http://purl.uniprot.org/citations/29339534 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29339534 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29339534 | http://www.w3.org/2000/01/rdf-schema#comment | "The transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) family of cytokines critically regulates vascular morphogenesis and homeostasis. Impairment of TGF-β or BMP signaling leads to heritable vascular disorders, including hereditary hemorrhagic telangiectasia (HHT). Drosha, a key enzyme for microRNA (miRNA) biogenesis, also regulates the TGF-β and BMP pathway through interaction with Smads and their joint control of gene expression through miRNAs. We report that mice lacking Drosha in the vascular endothelium developed a vascular phenotype resembling HHT that included dilated and disorganized vasculature, arteriovenous fistulae, and hemorrhages. Exome sequencing of HHT patients who lacked known pathogenic mutations revealed an overrepresentation of rare nonsynonymous variants of DROSHA Two of these DROSHA variants (P100L and R279L) did not interact with Smads and were partially catalytically active. In zebrafish, expression of these mutants or morpholino-directed knockdown of Drosha resulted in angiogenesis defects and abnormal vascular permeability. Together, our studies point to an essential role of Drosha in vascular development and the maintenance of vascular integrity, and reveal a previously unappreciated link between Drosha dysfunction and HHT."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.org/dc/terms/identifier | "doi:10.1126/scisignal.aan6831"xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.org/dc/terms/identifier | "doi:10.1126/scisignal.aan6831"xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Jiang X."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Jiang X."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Hata A."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Hata A."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "McDonald J."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "McDonald J."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Hart D."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Hart D."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Sandoval M."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Sandoval M."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Bayrak-Toydemir P."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Bayrak-Toydemir P."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Wooderchak-Donahue W.L."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Wooderchak-Donahue W.L."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Coughlin S."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Coughlin S."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Lagna G."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Lagna G."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Clay H."xsd:string |
| http://purl.uniprot.org/citations/29339534 | http://purl.uniprot.org/core/author | "Clay H."xsd:string |