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Genomics, epigenomics and pharmacogenomics of Familial Hypercholesterolemia (FHBGEP): A study protocol

Borges, Jéssica Bassani; Oliveira, Victor Fernandes de; Ferreira, Glaucio Monteiro; Los, Bruna; Barbosa, Thais Kristini Almendros Afonso; Marçal, Elisangela da Silva Rodrigues; Dagli-Hernandez, Carolina; Freitas, Renata Caroline Costa de; Bortolin, Raul Hernandes; Mori, Augusto Akira; Hirata, Thiago Dominguez Crespo; Nakaya, Helder Takashi Imoto; Bastos, Gisele Medeiros; Thurow, Helena Strelow; Gonçalves, Rodrigo Marques; Araujo, Daniel Branco de; Zatz, Henry Paulo; Bertolami, Adriana; Faludi, André Arpad; Bertolami, Marcelo Chiara; Sousa, Amanda Guerra de Moraes Rego; França, João Ítalo Dias; Jannes, Cinthia Elim; Pereira, Alexandre da Costa; Nakazone, Marcelo Arruda; Souza, Dorotéia Rossi Silva; Carmo, Tayanne Silva; Sampaiol, Marcelo Ferraz; Gorjao, Renata; Pithon-Curi, Tania Cristina; Moriel, Patricia; Silbiger, Vivian Nogueira; Luchessi, André Ducati; Araújo, Jéssica Nayara Góes de; Naslavsky, Michel Satya; Yu Ting Wang, Jaqueline; Kronenberger, Thales; Cerda, Alvaro; Lin-Wang, Hui Tzu; Garofalo, Adriana Regina; Fajardo, Cristina Moreno; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki.
Res. soc. adm. pharm; 17 (7), 2021
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disease that affects millions of people worldwide. OBJECTIVES: The study protocol FHBGEP was design to investigate the main genomic, epigenomic, and pharmacogenomic factors associated with FH and polygenic hypercholesterolemia (PH). METHODS: FH ...
Hipercolesterolemia, Doença da Artéria Coronariana, Epigenômica, Farmacogenética, Genes

Functional analysis of PCSK9 3′UTR variants and mRNA–miRNA interactions in patients with familial hypercholesterolemia

Los, Bruna; Borges, Jéssica B; Oliveira, Victor F; Freitas, Renata C. C; Dagli-Hernandez, Carolina; Bortolin, Raul H; Gonçalves, Rodrigo M; Faludi, André A; Rodrigues, Alice C; Bastos, Gisele M; Jannes, Cinthia E; Pereira, Alexandre C; Hirata, Rosario D. C; Hirata, Mario H.
Epigenomics (Online); 13 (10), 2021
AIM: functional analysis of pcsk9 3'utr variants and mrna-mirna interactions were explored in patients with familial hypercholesterolemia (fh). MATERIALS & METHODS: PCSK9 3'UTR variants were identified by exon-targeted gene sequencing. Functional effects of 3'UTR variants and mRNA-miRNA interactions were...
Pró-Proteína Convertase 9, Epigenômica, Hiperlipoproteinemia Tipo II, MicroRNAs