@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_head
{
this:
np:hasAssertion
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_assertion
;
np:hasProvenance
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_provenance
;
np:hasPublicationInfo
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_assertion
a
np:Assertion
.
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_provenance
a
np:Provenance
.
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_assertion
{
miriam-gene:3630
a
ncit:C16612
.
lld:C0220989
a
ncit:C7057
.
dgn-gda:DGNdc418fbb9beb6838c6ea1f3364f1440c
sio:SIO_000628
miriam-gene:3630
,
lld:C0220989
;
a
sio:SIO_001121
.
}
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_provenance
{
dgn-np:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_assertion
dcterms:description
"[These studies 1) definitively demonstrate the presence of severe peripheral and hepatic insulin resistance in the affected subjects; 2) describe a stereotyped pattern of partial lipodystrophy associated with all the features of the metabolic syndrome and nonalcoholic steatohepatitis; 3) document abnormalities in the in vivo function of remaining adipose tissue, including the inability of subcutaneous abdominal adipose tissue to trap and store free fatty acids postprandially and the presence of very low circulating levels of adiponectin; 4) document the presence of severe hyperinsulinemia in prepubertal carriers of the proline-467-leucine (P467L) PPAR-gamma mutation; 5) provide the first direct evidence of cellular resistance to PPAR-gamma agonists in mononuclear cells derived from the patients; and 6) report on the metabolic response to thiazolidinedione therapy in two affected subjects.]. 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:12663460
;
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:NP476455.RAEHhqKF4ndOYV6o4KCDxsLrotMqANyz4ek3kMS2afWus130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:45+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}