Search Results - "Mori, Augusto Akira"

Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia by Dagli-Hernandez, Carolina, Borges, Jéssica Bassani, Marçal, Elisangela da Silva Rodrigues, de Freitas, Renata Caroline Costa, Mori, Augusto Akira, Gonçalves, Rodrigo Marques, Faludi, Andre Arpad, de Oliveira, Victor Fernandes, Ferreira, Glaucio Monteiro, Bastos, Gisele Medeiros, Zhou, Yitian, Lauschke, Volker M, Cerda, Alvaro, Hirata, Mario Hiroyuki, Hirata, Rosario Dominguez Crespo

“…Statins are the first-line treatment for familial hypercholesterolemia (FH), but response is highly variable due to genetic and nongenetic factors. Here, we…”
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Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs by Mori, Augusto Akira, Malaquias, Vanessa Barbosa, Bonjour, Kennedy, Ferreira, Glaucio Monteiro, Bortolin, Raul Hernandes, Borges, Jéssica Bassani, Oliveira, Victor Fernandes de, Gonçalves, Rodrigo Marques, Faludi, Andre Arpad, Bastos, Gisele Monteiro, Thurow, Helena, Sampaio, Marcelo Ferraz, Ciconelli, Rozana Mesquita, Cury, Adriano Namo, Fajardo, Cristina Moreno, Hirata, Rosario Dominguez Crespo, Hirata, Mario Hiroyuki

“…•LDLR missense variants (p.C184Y, p.G373D, p.G549D, p.V797L, p.R814Q and p.V827I) were identified in FH patients.•· p.C184Y, p.G373D and p.G549D altered…”
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Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells by Los, Bruna, Ferreira, Glaucio Monteiro, Borges, Jéssica Bassani, Kronenberger, Thales, Oliveira, Victor Fernandes de, Dagli-Hernandez, Carolina, Bortolin, Raul Hernandes, Gonçalves, Rodrigo Marques, Faludi, Andre Arpad, Mori, Augusto Akira, Barbosa, Thais Kristini Almendros, Freitas, Renata Caroline Costa de, Jannes, Cinthia Elim, Pereira, Alexandre da Costa, Bastos, Gisele Medeiros, Poso, Antti, Hirata, Rosario Dominguez Crespo, Hirata, Mario Hiroyuki

“…•PCSK9 missense variants are potentially associated with Familial Hypercholesterolemia (FH).•PCSK9 p.E32K and p.R469W variants reduce the LDL receptor…”
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Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing by Borges, Jéssica Bassani, Oliveira, Victor Fernandes, Dagli-Hernandez, Carolina, Ferreira, Glaucio Monteiro, Barbosa, Thais Kristini Almendros Afonso, da Silva Rodrigues Marçal, Elisangela, 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, de Moraes Rego Souza, Amanda Guerra, 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

“…•Exon-targeted gene sequencing (ETGS) allows to screen genetic variants in Familial hypercholesterolemia (FH) patients and contributed to elucidate the…”
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Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy by Mori, Augusto Akira, Castro, Lara Reinel de, Bortolin, Raul Hernandes, Bastos, Gisele Medeiros, Oliveira, Victor Fernandes de, Ferreira, Glaucio Monteiro, Hirata, Thiago Dominguez Crespo, Fajardo, Cristina Moreno, Sampaio, Marcelo Ferraz, Moreira, Dalmo Antonio Ribeiro, Pachón-Mateos, José Carlos, Correia, Edileide de Barros, Sousa, Amanda Guerra de Moraes Rego, Brión, Maria, Carracedo, Angel, Hirata, Rosario Dominguez Crespo, Hirata, Mario Hiroyuki

“…Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy (LVH) and is one of the major causes of sudden cardiac death…”
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Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol by 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, de Freitas, Renata Caroline Costa, 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, Sampaio, Marcelo Ferraz, Gorjão, Renata, Pithon-Curi, Tania Cristina, Moriel, Patricia, Silbiger, Vivian Nogueira, Luchessi, André Ducati, de Araújo, Jéssica Nayara Góes, Naslavsky, Michel Satya, Wang, Jaqueline Yu Ting, Kronenberger, Thales, Cerda, Alvaro, Lin-Wang, Hui Tzu, Garofalo, Adriana Regina, Fajardo, Cristina Moreno, Hirata, Rosario Dominguez Crespo, Hirata, Mario Hiroyuki

“…Familial hypercholesterolemia (FH) is a genetic disease that affects millions of people worldwide. The study protocol FHBGEP was design to investigate the main…”
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Late response to rosuvastatin and statin-related myalgia due to SLCO1B1 , SLCO1B3 , ABCB11 , and CYP3A5 variants in a patient with Familial Hypercholesterolemia: a case report by Dagli-Hernandez, Carolina, de Freitas, Renata Caroline Costa, Marçal, Elisangela da Silva Rodrigues, Gonçalves, Rodrigo Marques, Faludi, Andre Arpad, Borges, Jéssica Bassani, Bastos, Gisele Medeiros, Los, Bruna, Mori, Augusto Akira, Bortolin, Raul Hernandes, Ferreira, Glaucio Monteiro, de Oliveira, Victor Fernandes, Hirata, Thiago Dominguez Crespo, Hirata, Mario Hiroyuki, Hirata, Rosario Dominguez Crespo

“…Statins are the most widely used cholesterol-lowering drugs for cardiovascular diseases prevention. However, some patients are refractory to treatment, whereas…”
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