Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_assertion description "[ These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_assertion evidence source_evidence_literature NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_assertion SIO_000772 15944607 NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_assertion wasDerivedFrom gad-20130706 NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_assertion wasGeneratedBy ECO_0000203 NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.
- gad-20130706 importedOn "2013-07-06" NP54551.RAlso-vL4s49Wz8R7s0cL4wae1NFCoJWpT1ZzwlmYtnSI130_provenance.