Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.

Autor: Antônio Francisco Alves da Silva, Filipe Brum Machado, Érika Cristina Pavarino, Joice Matos Biselli-Périco, Bruna Lancia Zampieri, Ronaldo da Silva Francisco Junior, Pedro Thyago Mozer Rodrigues, Douglas Terra Machado, Cíntia Barros Santos-Rebouças, Maria Gomes Fernandes, Susana Marina Chuva de Sousa Lopes, Álvaro Fabricio Lopes Rios, Enrique Medina-Acosta

Publikováno v: PLoS ONE, Vol 11, Iss 4, p e0154108 (2016)

The supernumerary chromosome 21 in Down syndrome differentially affects the methylation statuses at CpG dinucleotide sites and creates genome-wide transcriptional dysregulation of parental alleles, ultimately causing diverse pathologies. At present,

Externí odkaz: https://doaj.org/article/e0b46175e64245118ddd6a45e29f9313

Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners

Autor: Pedro Thyago Mozer Rodrigues, Cíntia Barros Santos-Rebouças, Filipe Brum Machado, Enrique Medina-Acosta, Antônio Francisco Alves da Silva, Bruna Lancia Zampieri, Érika Cristina Pavarino, Ronaldo da Silva Francisco Junior, Joice Matos Biselli-Périco, Maria Gomes Fernandes, Douglas Terra Machado, Álvaro Fabrício Lopes Rios, Susana M. Chuva de Sousa Lopes

Publikováno v: PLoS ONE, Vol 11, Iss 4, p e0154108 (2016)
PLoS ONE
PLOS ONE
PLoS ONE, 11(4)

The supernumerary chromosome 21 in Down syndrome differentially affects the methylation statuses at CpG dinucleotide sites and creates genome-wide transcriptional dysregulation of parental alleles, ultimately causing diverse pathologies. At present,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5144a4ab5e52a303f14d1c4a1e11737e
http://europepmc.org/articles/PMC4839675?pdf=render

5(me)CpG Epigenetic Marks Neighboring a Primate-Conserved Core Promoter Short Tandem Repeat Indicate X-Chromosome Inactivation

Autor: Filipe Brum Machado, Ester Silveira Ramos, Álvaro Fabrício Lopes Rios, Carlos Daniel de Brasi, Susana M. Chuva de Sousa Lopes, Leonardo Serafim da Silveira, Antônio Francisco Alves da Silva, Enrique Medina-Acosta, Fabricio B. Machado, Viviane Lamim Lovatel, Claudia Pamela Radic, Carlos R. Ruiz-Miranda, Milena Amendro Faria

Publikováno v: PLoS ONE, 9(7)
PLoS ONE
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
PLoS ONE, Vol 9, Iss 7, p e103714 (2014)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

X-chromosome inactivation (XCI) is the epigenetic transcriptional silencing of an X-chromosome during the early stages of embryonic development in female eutherian mammals. XCI assures monoallelic expression in each cell and compensation for dosage-s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b69b58c06223c8eb8f1383557c5c5c4a
http://hdl.handle.net/1887/104793

Prevalência de mosaicismo cromossômico em 2.500 casos realizados em um laboratório de genética no Estado do Rio de Janeiro, Brasil

Autor: Mauricio Assis Rodrigues, Bianca Rodrigues Marques Peterle, Erick de Souza Costa, Antonio Francisco Alves da Silva, Patricia Damasceno Ribeiro

Publikováno v: Vértices, Vol 22, Iss 3, Pp 579-589 (2020)

Mosaicismo cromossômico é definido como a existência de duas ou mais linhagens celulares com diferentes constituições cromossômicas em um mesmo indivíduo. Este trabalho tem como objetivo analisar a prevalência de mosaicismo cromossômico a pa

Externí odkaz: https://doaj.org/article/0134e921ca484cedabfb29a7b354bf85