@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_head { this: np:hasAssertion dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_assertion; np:hasProvenance dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_provenance; np:hasPublicationInfo dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_publicationInfo; a np:Nanopublication . dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_assertion a np:Assertion . dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_provenance a np:Provenance . dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_publicationInfo a np:PublicationInfo . } dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_assertion { miriam-gene:7046 a ncit:C16612 . lld:C0039445 a ncit:C7057 . dgn-gda:DGNc44d18e6e7b7569adfd59de4afdf6c18 sio:SIO_000628 miriam-gene:7046, lld:C0039445; a sio:SIO_001121 . } dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_provenance { dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_assertion dcterms:description "[The recent isolation and characterization of circulating endothelial cells from HHT patients has revealed a decreased endoglin expression, impaired ALK1- and ALK5-dependent TGF-beta signaling, disorganized cytoskeleton and the failure to form cord-like structures which may lead to the fragility of small vessels with bleeding characteristic of HHT vascular dysplasia or to disrupted and abnormal angiogenesis after injuries and may explain the clinical symptoms associated with this disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:16595794; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP503430.RA9JBheIfBP8X2Flg8Wcsi15uW0PSrw6j2GcDZgR0Rqeg130_publicationInfo { this: dcterms:created "2014-10-02T12:37:00+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }