Publication
Network Analyis Approach to Find New Candidate Genes and Pathways Involved in the Pathophysiology of Familial Hypercholesterolemia
| dc.contributor.author | Rossi, N. | |
| dc.contributor.author | Enguita, F.J. | |
| dc.contributor.author | Bourbon, Mafalda | |
| dc.date.accessioned | 2016-06-21T15:21:18Z | |
| dc.date.available | 2018-01-01T01:30:11Z | |
| dc.date.issued | 2016-05 | |
| dc.description.abstract | Introduction: Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD) due to lifelong elevated plasma low-density lipoprotein (LDL) levels. Worldwide only 40 % of patients (FH+) with a clinical diagnosis of FH carry a mutation in any of the three genes (namely: LDLR, APOB, PCSK 9) that are currently known to be associated to the disease. We guess that the remaining 60 % of the patients (FH-) probably includes a high percentage of individuals with a polygenic form of dyslipidemia or an environmental form of hypercholesterolemia and a small percentage of individuals with mutations in some novel genes, never associated before with dyslipidemias. Here we present the preliminary results of an integrative approach intended to identify new candidate genes and to dissect pathways that can be dysregulated in the disease. | pt_PT |
| dc.description.sponsorship | N. Rossi was funded by FCT:SFRH/BD/106086/2015 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/3846 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | pt_PT |
| dc.subject | Doenças Cardio e Cérebro-vasculares | pt_PT |
| dc.subject | Familial Hypercholesterolemia | pt_PT |
| dc.title | Network Analyis Approach to Find New Candidate Genes and Pathways Involved in the Pathophysiology of Familial Hypercholesterolemia | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Innsbruck, Austria | pt_PT |
| oaire.citation.title | 84th Congress of the European Atherosclerosis Society (EAS 2016), May 29-1June 2016 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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