Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases

Autor: Caio Robledo D.’Angioli Costa Quaio, Jose Ricardo Magliocco Ceroni, Murilo Castro Cervato, Helena Strelow Thurow, Caroline Monaco Moreira, Ana Carolina Gomes Trindade, Cintia Reys Furuzawa, Rafaela Rogerio Floriano de Souza, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Christine Hsiaoyun Chung, Chong Ae Kim

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)

Abstract Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation of benign and pathogenic variants gain importance. In this article, we used segregation analysis and other molecular da

Externí odkaz: https://doaj.org/article/51ea75e117a14da691f1eb3ce1e22895

Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing

Autor: Jéssica Bassani Borges, Victor Fernandes Oliveira, Carolina Dagli-Hernandez, Glaucio Monteiro Ferreira, Thais Kristini Almendros Afonso Barbosa, Elisangela da Silva Rodrigues Marçal, Bruna Los, Vanessa Barbosa Malaquias, Raul Hernandes Bortolin, Renata Caroline Costa Freitas, Augusto Akira Mori, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Daniel Branco Araújo, Henry Zatz, Adriana Bertolami, André Arpad Faludi, Marcelo Chiara Bertolami, Amanda Guerra de Moraes Rego Souza, João Ítalo Dias França, Helena Strelow Thurow, Thiago Dominguez Crespo Hirata, Helder Takashi Imoto Nakaya, Cinthia Elim Jannes, Alexandre da Costa Pereira, Vivian Nogueira Silbiger, André Ducati Luchessi, Jéssica Nayara Góes Araújo, Marcelo Arruda Nakazone, Tayanne Silva Carmo, Dorotéia Rossi Silva Souza, Patricia Moriel, Jaqueline Yu Ting Wang, Michel Satya Naslavsky, Renata Gorjão, Tania Cristina Pithon-Curi, Rui Curi, Cristina Moreno Fajardo, Hui-Tzu Lin Wang, Adriana Regina Garófalo, Alvaro Cerda, Marcelo Ferraz Sampaio, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hirata

Publikováno v: Gene. 875:147501

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da17601c89281cd8f6bae0c732c17a98
https://doi.org/10.1016/j.gene.2023.147501

Influence of antidepressant drugs on DNA methylation of ion channels genes in blood cells of psychiatric patients

Autor: Larissa Vilela Nascimento, Francisco Lotufo Neto, Dalmo Antonio Ribeiro Moreira, Virginia Braga Cerutti, Helena Strelow Thurow, Gisele Medeiros Bastos, Eric Batista Ferreira, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hirata

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Aim: This study investigated the influence of antidepressant drugs on methylation status of KCNE1, KCNH2 and SCN5A promoters and ECG parameters in adult psychiatric patients. Materials & methods: Electrocardiographic evaluation (24 h) and blood sampl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4ae24834a7107bcab74952b7eb5cb5f

Increased levels of plasma IL-1b and BDNF can predict resistant depression patients

Autor: Gisele Medeiros Bastos, Jéssica Bassani Borges, Joao Italo Dias França, Thiago Dominguez Crespo Hirata, Helena Strelow Thurow, Amanda G. M. R. Sousa, Luciana Uint, Mario Hiroyuki Hirata

Publikováno v: Revista da Associação Médica Brasileira, Vol 65, Iss 3, Pp 361-369 (2019)
Revista da Associação Médica Brasileira v.65 n.3 2019
Revista da Associação Médica Brasileira
Associação Médica Brasileira (AMB)
instacron:AMB
Revista da Associação Médica Brasileira, Volume: 65, Issue: 3, Pages: 361-369, Published: 11 APR 2019

SUMMARY BACKGROUND: There is no strong evidence on the link between inflammatory profile and pattern of drug treatment response in depressive patients that could result in Coronary Artery Disease occurrence. OBJECTIVE: This study aimed to compare the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a361fd38acc6ce076676e63ffefce0
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302019000300361&lng=en&tlng=en

Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): a study protocol

Autor: Helena Strelow Thurow, Marcelo Ferraz Sampaio, Amanda G. M. R. Sousa, Jaqueline Yu Ting Wang, Glaucio Monteiro Ferreira, Patricia Moriel, André Arpad Faludi, Vivian Nogueira Silbiger, Rodrigo Marques Gonçalves, Hui Tzu Lin-Wang, Cristina Moreno Fajardo, Augusto Akira Mori, Jéssica Nayara Góes de Araújo, Carolina Dagli-Hernandez, Jéssica Bassani Borges, Alexandre C. Pereira, Michel S Naslavsky, André Ducati Luchessi, Mario Hiroyuki Hirata, Tayanne Silva Carmo, Dorotéia Rossi Silva Souza, Alvaro Cerda, Marcelo Arruda Nakazone, Thiago Dominguez Crespo Hirata, Raul Hernandes Bortolin, DB Araújo, Renata Caroline Costa de Freitas, Elisangela da Silva Rodrigues Marçal, Joao Italo Dias França, Henry Paulo Zatz, Victor Fernandes de Oliveira, Cinthia E. Jannes, Tania Cristina Pithon-Curi, Gisele Medeiros Bastos, Thales Kronenberger, Adriana Regina Garofalo, Adriana Bertolami, Thais Kristini Almendros Afonso Barbosa, Renata Gorjão, Bruna Los, Rosario Dominguez Crespo Hirata, Helder I. Nakaya, Marcelo Chiara Bertolami

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf7ee493f4dde8c75aaa2354625f8056