| http://purl.uniprot.org/citations/27170061 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27170061 | http://www.w3.org/2000/01/rdf-schema#comment | "Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder, which leads to premature cardiovascular diseases. Microsomal triglyceride transport protein (MTP) inhibitors, such as lomitapide, offer a new therapeutic approach for treating these patients. We evaluated the lipid lowering (LL) efficacy of lomitapide according to several gene variants in MTP. Four clinically and/or molecularly defined HoFH patients were treated with lomitapide in addition to conventional high intensity LL therapy and regular lipoprotein apheresis. Two patients responded to the therapy, with a significant reduction of LDL cholesterol (LDL-C＞50%, hyper-responders). Sequencing of all exonic and intronic flanking regions of the MTP gene in all patients revealed 36 different variants. The hyper-responders to lomitapide shared six common variants: rs17533489, rs79194015, rs745075, rs41275715, rs1491246, and rs17533517, which were not seen in hypo-responders (reduction in LDL-C＜50%). We suggest that in HoFH variants in the MTP gene may impact on the therapeutic response to lomitapide, but this requires further investigation."xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.org/dc/terms/identifier | "doi:10.5551/jat.34777"xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/author | "Watts G.F."xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/author | "Papadopoulou A."xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/author | "Kolovou G.D."xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/author | "Kolovou V."xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/name | "J Atheroscler Thromb"xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/pages | "878-883"xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/title | "MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia."xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/27170061 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27170061 |
| http://purl.uniprot.org/citations/27170061 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/27170061 |
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| http://purl.uniprot.org/uniprot/#_Q16240-mappedCitation-27170061 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27170061 |
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| http://purl.uniprot.org/uniprot/Q16240 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/27170061 |
| http://purl.uniprot.org/uniprot/P55157 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/27170061 |
| http://purl.uniprot.org/uniprot/B7Z7X3 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/27170061 |