{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T04:06:32Z","timestamp":1777608392500,"version":"3.51.4"},"reference-count":72,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/12899-6"],"award-info":[{"award-number":["2016\/12899-6"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["447120\/2014-0"],"award-info":[{"award-number":["447120\/2014-0"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Research in Social and Administrative Pharmacy"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1016\/j.sapharm.2020.10.007","type":"journal-article","created":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T23:17:21Z","timestamp":1603927041000},"page":"1347-1355","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol"],"prefix":"10.1016","volume":"17","author":[{"given":"J\u00e9ssica Bassani","family":"Borges","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor Fernandes de","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Glaucio Monteiro","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruna","family":"Los","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thais Kristini Almendros Afonso","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisangela da Silva Rodrigues","family":"Mar\u00e7al","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Dagli-Hernandez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata Caroline Costa","family":"de Freitas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raul Hernandes","family":"Bortolin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9786-8946","authenticated-orcid":false,"given":"Augusto Akira","family":"Mori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thiago Dominguez Crespo","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helder Takashi Imoto","family":"Nakaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisele Medeiros","family":"Bastos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena Strelow","family":"Thurow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo Marques","family":"Gon\u00e7alves","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Branco de","family":"Araujo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry Paulo","family":"Zatz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Bertolami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 Arpad","family":"Faludi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo Chiara","family":"Bertolami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda Guerra de Moraes Rego","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o \u00cdtalo Dias","family":"Fran\u00e7a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinthia Elim","family":"Jannes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre da Costa","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo Arruda","family":"Nakazone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorot\u00e9ia Rossi Silva","family":"Souza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tayanne Silva","family":"Carmo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelo Ferraz","family":"Sampaio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Gorj\u00e3o","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania Cristina","family":"Pithon-Curi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Moriel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivian Nogueira","family":"Silbiger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 Ducati","family":"Luchessi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e9ssica Nayara G\u00f3es","family":"de Ara\u00fajo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel Satya","family":"Naslavsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaqueline Yu Ting","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6933-7590","authenticated-orcid":false,"given":"Thales","family":"Kronenberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3428-8332","authenticated-orcid":false,"given":"Alvaro","family":"Cerda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui Tzu","family":"Lin-Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana Regina","family":"Garofalo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina Moreno","family":"Fajardo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosario Dominguez Crespo","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario Hiroyuki","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.atherosclerosis.2015.09.021","article-title":"Familial hypercholesterolaemia: a global call to arms","volume":"243","author":"Vallejo-Vaz","year":"2015","journal-title":"Atherosclerosis"},{"issue":"e016461","key":"10.1016\/j.sapharm.2020.10.007_bib2","first-page":"1","article-title":"Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis","volume":"7","author":"Akioyamen","year":"2017","journal-title":"BMJ Open"},{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib3","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s40119-015-0037-z","article-title":"Familial hypercholesterolemia: a review of the natural history, diagnosis, and management","volume":"4","author":"Najam","year":"2015","journal-title":"Cardiol Ther"},{"key":"10.1016\/j.sapharm.2020.10.007_bib4","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1016\/j.jacc.2018.05.044","article-title":"Clinical genetic testing for familial hypercholesterolemia: JACC scientific expert panel","volume":"72","author":"Sturm","year":"2018","journal-title":"J Am Coll Cardiol"},{"issue":"3","key":"10.1016\/j.sapharm.2020.10.007_bib5","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.metabol.2015.10.018","article-title":"The genetic spectrum of familial hypercholesterolemia in south-eastern Poland","volume":"65","author":"Sharifi","year":"2016","journal-title":"Metabolism"},{"issue":"3","key":"10.1016\/j.sapharm.2020.10.007_bib6","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1111\/cge.13697","article-title":"The FH phenotype: monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes","volume":"97","author":"Mariano","year":"2020","journal-title":"Clin Genet"},{"key":"10.1016\/j.sapharm.2020.10.007_bib7","series-title":"WHO. Human Genetics Programme. Familial Hypercholesterolaemia (FH)","author":"World Health Organization","year":"1998"},{"issue":"a1095","key":"10.1016\/j.sapharm.2020.10.007_bib8","article-title":"Familial hypercholesterolaemia: summary of NICE guidance","volume":"337","author":"Wierzbicki","year":"2008","journal-title":"BMJ"},{"issue":"3","key":"10.1016\/j.sapharm.2020.10.007_bib9","article-title":"Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry","volume":"167","author":"O'Brien","year":"2014","journal-title":"Am Heart J"},{"key":"10.1016\/j.sapharm.2020.10.007_bib10","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1097\/MOL.0000000000000398","article-title":"The role of registries and genetic databases in familial hypercholesterolemia","volume":"28","author":"Kindt","year":"2017","journal-title":"Curr Opin Lipidol"},{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib11","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.atherosclerosis.2014.11.009","article-title":"Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects","volume":"238","author":"Jannes","year":"2015","journal-title":"Atherosclerosis"},{"issue":"10","key":"10.1016\/j.sapharm.2020.10.007_bib12","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1136\/jmedgenet-2012-101189","article-title":"Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia","volume":"49","author":"Futema","year":"2012","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.sapharm.2020.10.007_bib13","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1111\/joim.12263","article-title":"Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing","volume":"276","author":"Maglio","year":"2014","journal-title":"J Intern Med"},{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib14","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/1471-2350-15-70","article-title":"Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study","volume":"15","author":"Norsworthy","year":"2014","journal-title":"BMC Med Genet"},{"issue":"12","key":"10.1016\/j.sapharm.2020.10.007_bib15","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1038\/gim.2013.55","article-title":"The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia","volume":"15","author":"Vandrovcova","year":"2013","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib16","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.atherosclerosis.2012.08.017","article-title":"In vitro functional characterization of missense mutations in the LDLR gene","volume":"225","author":"Silva","year":"2012","journal-title":"Atherosclerosis"},{"issue":"5","key":"10.1016\/j.sapharm.2020.10.007_bib17","doi-asserted-by":"crossref","first-page":"718","DOI":"10.4161\/epi.27981","article-title":"Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia","volume":"9","author":"Guay","year":"2014","journal-title":"Epigenetics"},{"issue":"AUG","key":"10.1016\/j.sapharm.2020.10.007_bib18","article-title":"Epigenetic regulation of cholesterol homeostasis","volume":"5","author":"Meaney","year":"2014","journal-title":"Front Genet"},{"key":"10.1016\/j.sapharm.2020.10.007_bib19","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.plipres.2016.10.002","article-title":"The role of DNA methylation in dyslipidaemia: a systematic review","volume":"64","author":"Braun","year":"2016","journal-title":"Prog Lipid Res"},{"key":"10.1016\/j.sapharm.2020.10.007_bib20","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/j.ijcard.2016.11.182","article-title":"Emerging roles and mechanisms of long noncoding RNAs in atherosclerosis","volume":"228","author":"Liu","year":"2017","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.sapharm.2020.10.007_bib21","doi-asserted-by":"crossref","first-page":"2380","DOI":"10.1016\/j.jacc.2018.08.2161","article-title":"Long noncoding RNAs in atherosclerosis: JACC review topic of the week","volume":"72","author":"Zhang","year":"2018","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.sapharm.2020.10.007_bib22","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.vph.2018.10.001","article-title":"Role of flow-sensitive microRNAs and long noncoding RNAs in vascular dysfunction and atherosclerosis","volume":"114","author":"Kumar","year":"2019","journal-title":"Vasc Pharmacol"},{"key":"10.1016\/j.sapharm.2020.10.007_bib23","doi-asserted-by":"crossref","DOI":"10.3389\/fcvm.2019.00009","article-title":"Multi-omics approaches to study long non-coding RNA function in atherosclerosis","volume":"6","author":"Turner","year":"2019","journal-title":"Front Cardiovasc Med"},{"key":"10.1016\/j.sapharm.2020.10.007_bib24","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.mam.2012.08.001","article-title":"Cardiovascular epigenetics: from DNA methylation to microRNAs","volume":"34","author":"Udali","year":"2013","journal-title":"Mol Aspect Med"},{"issue":"239","key":"10.1016\/j.sapharm.2020.10.007_bib25","doi-asserted-by":"crossref","first-page":"239ps3","DOI":"10.1126\/scitranslmed.3009008","article-title":"MicroRNAs as therapeutic targets and biomarkers of cardiovascular disease","volume":"6","author":"Olson","year":"2014","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.sapharm.2020.10.007_bib26","doi-asserted-by":"crossref","first-page":"478","DOI":"10.3389\/fgene.2019.00478","article-title":"The potential for microRNA therapeutics and clinical research","volume":"10","author":"Hanna","year":"2019","journal-title":"Front Genet"},{"issue":"3","key":"10.1016\/j.sapharm.2020.10.007_bib27","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1097\/MOL.0000000000000420","article-title":"MicroRNAs and lipid metabolism","volume":"28","author":"Aryal","year":"2017","journal-title":"Curr Opin Lipidol"},{"issue":"12","key":"10.1016\/j.sapharm.2020.10.007_bib28","doi-asserted-by":"crossref","first-page":"2028","DOI":"10.3390\/ijms17122028","article-title":"Exosomes as miRNA carriers: formation-function-future","volume":"17","author":"Yu","year":"2016","journal-title":"Int J Mol Sci"},{"issue":"9","key":"10.1016\/j.sapharm.2020.10.007_bib29","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1007\/s11883-019-0797-3","article-title":"The impact of the international cooperation on familial hypercholesterolemia screening and treatment: results from the ScreenPro FH project","volume":"21","author":"Ceska","year":"2019","journal-title":"Curr Atherosclerosis Rep"},{"issue":"12","key":"10.1016\/j.sapharm.2020.10.007_bib30","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/s41569-018-0098-5","article-title":"Safety and efficacy of statin therapy","volume":"15","author":"Adhyaru","year":"2018","journal-title":"Nat Rev Cardiol"},{"issue":"6","key":"10.1016\/j.sapharm.2020.10.007_bib31","first-page":"477","article-title":"Comparison of the efficacy and level of adherence for morning versus evening versus before bedtime administration of simvastatin in hypercholesterolemic patients","volume":"74","author":"Heng","year":"2019","journal-title":"Med J Malaysia"},{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib32","doi-asserted-by":"crossref","DOI":"10.1007\/s11883-013-0384-y","article-title":"Genetics and personalized Medicine - a role in statin therapy? topical collection on statin drugs","volume":"16","author":"Patel","year":"2014","journal-title":"Curr Atherosclerosis Rep"},{"key":"10.1016\/j.sapharm.2020.10.007_bib33","first-page":"97","article-title":"Pharmacogenomics of statins: understanding susceptibility to adverse effects","volume":"9","author":"Kitzmiller","year":"2016","journal-title":"Pharmgenomics Pers Med"},{"issue":"2 Supl. 2","key":"10.1016\/j.sapharm.2020.10.007_bib34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5935\/abc.20120202","article-title":"Sociedade brasileira de Cardiologia. I diretriz brasileira de Hipercolesterolemia familiar (HF)","volume":"99","author":"Santos","year":"2012","journal-title":"Arq Bras Cardiol"},{"issue":"2 Supl. 2","key":"10.1016\/j.sapharm.2020.10.007_bib35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5935\/abc.20120202","article-title":"Sociedade brasileira de Cardiologia. I diretriz brasileira de Hipercolesterolemia familiar (HF)","volume":"99","author":"Santos","year":"2012","journal-title":"Arq Bras Cardiol"},{"issue":"10","key":"10.1016\/j.sapharm.2020.10.007_bib36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0205430","article-title":"KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment","volume":"13","author":"Ruiz-Iruela","year":"2018","journal-title":"PLoS One"},{"issue":"9","key":"10.1016\/j.sapharm.2020.10.007_bib37","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"10.1016\/j.sapharm.2020.10.007_bib38","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr Protoc Bioinforma"},{"issue":"21","key":"10.1016\/j.sapharm.2020.10.007_bib39","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1158\/0008-5472.CAN-17-0337","article-title":"Variant review with the integrative genomics viewer","volume":"77","author":"Robinson","year":"2017","journal-title":"Canc Res"},{"issue":"16","key":"10.1016\/j.sapharm.2020.10.007_bib40","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"issue":"405\u201324","key":"10.1016\/j.sapharm.2020.10.007_bib41","first-page":"1","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"12","key":"10.1016\/j.sapharm.2020.10.007_bib42","doi-asserted-by":"crossref","first-page":"2439","DOI":"10.1161\/ATVBAHA.116.308027","article-title":"Polygenic versus monogenic causes of hypercholesterolemia ascertained ClinicallyHighlights","volume":"36","author":"Wang","year":"2016","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"10.1016\/j.sapharm.2020.10.007_bib43","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.atherosclerosis.2018.06.006","article-title":"Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia","volume":"277","author":"Futema","year":"2018","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.sapharm.2020.10.007_bib44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fcvm.2019.00005","article-title":"Genetic testing and risk scores: impact on familial hypercholesterolemia","volume":"6","author":"Sarraju","year":"2019","journal-title":"Front Cardiovasc Med"},{"issue":"11","key":"10.1016\/j.sapharm.2020.10.007_bib45","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system","volume":"8","author":"Ran","year":"2013","journal-title":"Nat Protoc"},{"issue":"8","key":"10.1016\/j.sapharm.2020.10.007_bib46","first-page":"1181","article-title":"Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia","volume":"40","author":"Rodr\u00edguez-Jim\u00e9nez","year":"2019","journal-title":"Hum Mutat"},{"issue":"23","key":"10.1016\/j.sapharm.2020.10.007_bib47","doi-asserted-by":"crossref","first-page":"17789","DOI":"10.1074\/jbc.M109.082057","article-title":"Identification of heterogeneous nuclear ribonucleoprotein K as a transactivator for human low density lipoprotein receptor gene transcription","volume":"285","author":"Li","year":"2010","journal-title":"J Biol Chem"},{"issue":"2","key":"10.1016\/j.sapharm.2020.10.007_bib48","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.clnu.2010.07.020","article-title":"Promoter variant -204A > C of the cholesterol 7\u03b1-hydroxylase gene: association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells","volume":"30","author":"De Castro-Or\u00f3s","year":"2011","journal-title":"Clin Nutr"},{"issue":"5","key":"10.1016\/j.sapharm.2020.10.007_bib49","doi-asserted-by":"crossref","first-page":"1537","DOI":"10.1021\/ci400639r","article-title":"PyInteraph: a framework for the analysis of interaction networks in structural ensembles of proteins","volume":"54","author":"Tiberti","year":"2014","journal-title":"J Chem Inf Model"},{"key":"10.1016\/j.sapharm.2020.10.007_bib50","doi-asserted-by":"crossref","first-page":"2.9.1","DOI":"10.1002\/cpps.20","article-title":"Comparative protein structure modeling using MODELLER","volume":"86","author":"Webb","year":"2016","journal-title":"Curr Protoc Protein Sci"},{"issue":"12","key":"10.1016\/j.sapharm.2020.10.007_bib51","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1002\/prot.24403","article-title":"How good is automated protein docking?","volume":"81","author":"Kozakov","year":"2013","journal-title":"Proteins Struct Funct Bioinforma"},{"issue":"23","key":"10.1016\/j.sapharm.2020.10.007_bib52","first-page":"24","article-title":"Inhibition of porcine aminopeptidase M (pAMP) by the pentapeptide microginins","volume":"29","author":"Ferreira","year":"2019","journal-title":"Molecules"},{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib53","doi-asserted-by":"crossref","first-page":"51","DOI":"10.4155\/fmc-2019-0158","article-title":"Virtual screening of antibacterial compounds by similarity search of Enoyl-ACP reductase (FabI) inhibitors","volume":"12","author":"Junior","year":"2019","journal-title":"Future Med Chem"},{"issue":"2","key":"10.1016\/j.sapharm.2020.10.007_bib54","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1093\/bib\/bbv056","article-title":"Normalization of circulating microRNA expression data obtained by quantitative real-time RT-PCR","volume":"17","author":"Marabita","year":"2016","journal-title":"Briefings Bioinf"},{"issue":"19","key":"10.1016\/j.sapharm.2020.10.007_bib55","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1161\/CIRCULATIONAHA.116.023686","article-title":"Long noncoding RNAs in cardiovascular pathology, diagnosis, and therapy","volume":"134","author":"B\u00e4r","year":"2016","journal-title":"Circulation"},{"key":"10.1016\/j.sapharm.2020.10.007_bib56","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/bs.acc.2018.07.001","article-title":"Long noncoding RNAs: advances in lipid metabolism","volume":"87","author":"Zeng","year":"2018","journal-title":"Adv Clin Chem"},{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib57","doi-asserted-by":"crossref","first-page":"1","DOI":"10.5935\/abc.20170121","article-title":"Atualiza\u00e7\u00e3o da Diretriz Brasileira de Dislipidemias e Preven\u00e7\u00e3o da Aterosclerose - 2017","volume":"109","author":"Faludi","year":"2017","journal-title":"Arq Bras Cardiol"},{"key":"10.1016\/j.sapharm.2020.10.007_bib58","doi-asserted-by":"crossref","unstructured":"Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients clinical guidance from the national lipid association expert panel on familial hypercholesterolemia background and rationale. J Clin Lipidol. 5(3):1\u20138.","DOI":"10.1016\/j.jacl.2011.03.452"},{"issue":"4","key":"10.1016\/j.sapharm.2020.10.007_bib59","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/humu.9032","article-title":"Molecular basis of familial hypercholesterolemia in Brazil: identification of seven novel LDLR gene mutations","volume":"19","author":"Salazar","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.sapharm.2020.10.007_bib60","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1590\/S1415-47572009005000028","article-title":"Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil","volume":"32","author":"Nakazone","year":"2009","journal-title":"Genet Mol Biol"},{"issue":"1","key":"10.1016\/j.sapharm.2020.10.007_bib61","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.atherosclerosis.2013.12.028","article-title":"Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia","volume":"233","author":"Santos","year":"2014","journal-title":"Atherosclerosis"},{"issue":"86","key":"10.1016\/j.sapharm.2020.10.007_bib62","first-page":"1","article-title":"Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a Latvian population","volume":"16","author":"Radovica-Spalvina","year":"2015","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.sapharm.2020.10.007_bib63","doi-asserted-by":"crossref","first-page":"31","DOI":"10.4068\/cmj.2018.54.1.31","article-title":"Detection of familial hypercholesterolemia using next generation sequencing in two population-based cohorts","volume":"54","author":"Kim","year":"2018","journal-title":"Chonnam Med J"},{"issue":"8","key":"10.1016\/j.sapharm.2020.10.007_bib64","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1136\/jmedgenet-2014-102405","article-title":"Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR\/APOB\/PCSK9 mutations","volume":"51","author":"Futema","year":"2014","journal-title":"J Med Genet"},{"issue":"9874","key":"10.1016\/j.sapharm.2020.10.007_bib65","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1016\/S0140-6736(13)60187-7","article-title":"Polygenic familial hypercholesterolaemia: does it matter?","volume":"381","author":"Stein","year":"2013","journal-title":"Lancet"},{"issue":"3","key":"10.1016\/j.sapharm.2020.10.007_bib66","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/heartjnl-2012-302917","article-title":"Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia","volume":"99","author":"Clarke","year":"2013","journal-title":"Heart"},{"issue":"2","key":"10.1016\/j.sapharm.2020.10.007_bib67","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1097\/MOL.0000000000000491","article-title":"DNA methylation in human lipid metabolism and related diseases","volume":"29","author":"Mittelstra\u00df","year":"2018","journal-title":"Curr Opin Lipidol"},{"issue":"3","key":"10.1016\/j.sapharm.2020.10.007_bib68","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1097\/MOL.0000000000000603","article-title":"Integrative roles of microRNAs in lipid metabolism and dyslipidemia","volume":"30","author":"Sedgeman","year":"2019","journal-title":"Curr Opin Lipidol"},{"issue":"4","key":"10.1016\/j.sapharm.2020.10.007_bib69","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.tips.2015.02.005","article-title":"Epigenetic-related therapeutic challenges in cardiovascular disease","volume":"36","author":"Schiano","year":"2015","journal-title":"Trends Pharmacol Sci"},{"issue":"11","key":"10.1016\/j.sapharm.2020.10.007_bib70","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1016\/j.tips.2018.09.005","article-title":"MicroRNAs: novel molecular targets and response modulators of statin therapy","volume":"39","author":"Mohajeri","year":"2018","journal-title":"Trends Pharmacol Sci"},{"issue":"5","key":"10.1016\/j.sapharm.2020.10.007_bib71","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/ajhb.22714","article-title":"Meta-analysis of Brazilian genetic admixture and comparison with other Latin America countries","volume":"27","author":"Moura","year":"2015","journal-title":"Am J Hum Biol"},{"issue":"12","key":"10.1016\/j.sapharm.2020.10.007_bib72","doi-asserted-by":"crossref","first-page":"2115","DOI":"10.1194\/jlr.R072231","article-title":"The panorama of familial hypercholesterolemia in Latin America: a systematic review","volume":"57","author":"Mehta","year":"2016","journal-title":"J Lipid Res"}],"container-title":["Research in Social and Administrative Pharmacy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1551741120311384?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1551741120311384?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T09:23:46Z","timestamp":1761557026000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1551741120311384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":72,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["S1551741120311384"],"URL":"https:\/\/doi.org\/10.1016\/j.sapharm.2020.10.007","relation":{},"ISSN":["1551-7411"],"issn-type":[{"value":"1551-7411","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol","name":"articletitle","label":"Article Title"},{"value":"Research in Social and Administrative Pharmacy","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.sapharm.2020.10.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}