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Resultados: 3

LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach

de Freitas, Renata Caroline Costa; Bortolin, Raul Hernandes; Borges, Jessica Bassani; de Oliveira, Victor Fernandes; Dagli-Hernandez, Carolina; Marçal, Elisangela da Silva Rodrigues; Bastos, Gisele Medeiros; Gonçalves, Rodrigo Marques; Faludi, Andre Arpad; Silbiger, Vivian Nogueira; Luchessi, André Ducati; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki.
Mol. Biol. reports; 50 (), 2023
BACKGROUND Familial hypercholesterolemia (FH) is caused by pathogenic variants in low-density lipoprotein (LDL) receptor (LDLR) or its associated genes, including apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDLR adaptor protein 1 (LDLRAP1). However, approximately 4...
Hiperlipoproteinemia Tipo II, Pró-Proteína Convertase 9, d0080770, d0434840, d0123330, d0120450, d0010530, d0010550, MicroRNAs
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Identification of apob variants in samples from the brazilian population with hypercholesterolemic phenotype

Malaquias, Vanessa Barbosa; Oliveira, Victor Fernandes de; Ferreira, Glaucio Monteiro; Borges, Jessica Bassani; Gonçalves, Rodrigo Marques; Faludi, André Arpad; Sampaio, Marcelo Ferraz; Cury, Adriano Namo; Nakazone, Marcelo Arruda; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki.
Arq. bras. cardiol; 120 (9 supl. 1), 2023
INTRODUCTION AND OBJECTIVES: Apolipoprotein B plays a crucial role in regulating plasma cholesterol by mediating the interaction of low-density lipoprotein (LDL) with LDL receptors in the liver. Inherited mutations in this gene may increase the risk of developing premature atherosclerotic cardiovascular ...
Colesterol, d0069370, d0123060, d0010530, d0010550, d0042470, d0023180, d0106410
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Identification of pathogenic variants in the brazilian cohort with familial hypercholesterolemia using exon-targeted gene sequencing

Borges, Jéssica Bassani; Oliveira, Victor Fernandes; Dagli-Hernandez, Carolina; Ferreira, Glaucio Monteiro; Barbosa, Thais Kristini Almendros Afonso; Marçal, Elisangela da Silva Rodrigues; Los, Bruna; Malaquias, Vanessa Barbosa; Bortolin, Raul Hernandes; Freitas, Renata Caroline Costa; Mori, Augusto Akira; Bastos, Gisele Medeiros; Gonçalves, Rodrigo Marques; Araújo, Daniel Branco; Zatz, Henry; Bertolami, Adriana; Faludi, André Arpad; Bertolami, Marcelo Chiara; Souza, Amanda Guerra de Moraes Rego; França, João Ítalo Dias; Thurow, Helena Strelow; Hirata, Thiago Dominguez Crespo; Nakaya, Helder Takashi Imoto; Jannes, Cinthia Elim; da Costa Pereira, Alexandre; Silbiger, Vivian Nogueira; Luchessi, André Ducati; Araújo, Jéssica Nayara Góes; Nakazone, Marcelo Arruda; Carmo, Tayanne Silva; Souza, Dorotéia Rossi Silva; Moriel, Patricia; Wang, Jaqueline Yu Ting; Naslavsky, Michel Satya; Gorjão, Renata; Pithon-Curi, Tania Cristina; Curi, Rui; Fajardo, Cristina Moreno; Wang, Hui-Tzu Lin; Garófalo, Adriana Regina; Cerda, Alvaro; Sampaio, Marcelo Ferraz; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki.
Gene; 875 (), 2023
Familial hypercholesterolemia (FH) is a monogenic disease characterized by high plasma low-density lipoprotein cholesterol (LDL-c) levels and increased risk of premature atherosclerotic cardiovascular disease. Mutations in FH-related genes account for 40% of FH cases worldwide. In this study, we aimed to...
d0010550, d0027840, d0023180, d0057960, d0069380