Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Ronaldo da Silva Francisco Junior"'
Autor:
Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flavia Amendola Anisio de Carvalho, Bárbara Carvalho Santos dos Reis, Fernanda Pinto-Mariz, Monica Soares de Souza, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro Vasconcelos
Publikováno v:
BMC Genomic Data, Vol 24, Iss 1, Pp 1-14 (2023)
Abstract Background Inherited genetic defects in immune system-related genes can result in Inborn Errors of Immunity (IEI), also known as Primary Immunodeficiencies (PID). Diagnosis of IEI disorders is challenging due to overlapping clinical manifest
Externí odkaz:
https://doaj.org/article/c74b95eb53824632bec8a49da9b6080e
Autor:
Cristina Santos Ferreira, Ronaldo da Silva Francisco Junior, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Monica Soares de Souza, Patrícia Carvalho Batista Miranda, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro Vasconcelos
Publikováno v:
BMC Genomic Data, Vol 24, Iss 1, Pp 1-5 (2023)
Abstract Objectives Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variant
Externí odkaz:
https://doaj.org/article/fdb6561e78134b778f66e63032ce6d4e
Autor:
Ronaldo da Silva Francisco Junior, Guilherme Loss de Morais, Joseane Biso de Carvalho, Cristina dos Santos Ferreira, Alexandra Lehmkuhl Gerber, Ana Paula de C Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro de Vasconcelos
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations in BTK gene. Usually, XLA patients are not susceptible to respira
Externí odkaz:
https://doaj.org/article/e303b09fe71d48cfb4d2b1d34c0b19a9
Autor:
Ronaldo da Silva Francisco Junior, Jairo R. Temerozo, Cristina dos Santos Ferreira, Yasmmin Martins, Thiago Moreno L. Souza, Enrique Medina-Acosta, Ana Tereza Ribeiro de Vasconcelos
Publikováno v:
Frontiers in Immunology, Vol 13 (2023)
IntroductionCell entry of SARS-CoV-2 causes genome-wide disruption of the transcriptional profiles of genes and biological pathways involved in the pathogenesis of COVID-19. Expression allelic imbalance is characterized by a deviation from the Mendel
Externí odkaz:
https://doaj.org/article/5a1cf3b696c8404a873d59225d452959
Autor:
Ronaldo da Silva Francisco Junior, Luiz G. P. de Almeida, Alessandra P. Lamarca, Liliane Cavalcante, Yasmmin Martins, Alexandra L. Gerber, Ana Paula de C. Guimarães, Ricardo Barbosa Salviano, Fernanda Leitão dos Santos, Thiago Henrique de Oliveira, Isabelle Vasconcellos de Souza, Erika Martins de Carvalho, Mario Sergio Ribeiro, Silvia Carvalho, Flávio Dias da Silva, Marcio Henrique de Oliveira Garcia, Leandro Magalhães de Souza, Cristiane Gomes da Silva, Caio Luiz Pereira Ribeiro, Andréa Cony Cavalcanti, Claudia Maria Braga de Mello, Amilcar Tanuri, Ana Tereza R. Vasconcelos
Publikováno v:
Frontiers in Public Health, Vol 10 (2022)
In this study, we report the first case of intra-host SARS-CoV-2 recombination during a coinfection by the variants of concern (VOC) AY.33 (Delta) and P.1 (Gamma) supported by sequencing reads harboring a mosaic of lineage-defining mutations. By usin
Externí odkaz:
https://doaj.org/article/815299687f2c4f77b13c7ec55bd55677
Autor:
Victor Borda, Ronaldo da Silva Francisco Junior, Joseane B Carvalho, Guilherme L Morais, Átila Duque Rossi, Paula Pezzuto, Girlene S Azevedo, Bruno L Schamber-Reis, Elyzabeth A Portari, Adriana Melo, Maria Elisabeth L Moreira, Letícia C Guida, Daniela P Cunha, Leonardo Gomes, Zilton F M Vasconcelos, Fabio R Faucz, Amilcar Tanuri, Constantine A Stratakis, Renato S Aguiar, Cynthia Chester Cardoso, Ana Tereza Ribeiro de Vasconcelos
Publikováno v:
PLoS Neglected Tropical Diseases, Vol 15, Iss 6, p e0009507 (2021)
Congenital Zika Syndrome (CZS) is a critical illness with a wide range of severity caused by Zika virus (ZIKV) infection during pregnancy. Life-threatening neurodevelopmental dysfunctions are among the most common phenotypes observed in affected newb
Externí odkaz:
https://doaj.org/article/95f436c15dc4409494eead58cabd59bd
Autor:
Ronaldo da Silva Francisco Junior, Alessandra P Lamarca, Luiz G P de Almeida, Liliane Cavalcante, Douglas Terra Machado, Yasmmin Martins, Otávio Brustolini, Alexandra L Gerber, Ana Paula de C Guimarães, Reinaldo Bellini Gonçalves, Cassia Alves, Diana Mariani, Thais Felix Cruz, Isabelle Vasconcellos de Souza, Erika Martins de Carvalho, Mario Sergio Ribeiro, Silvia Carvalho, Flávio Dias da Silva, Márcio Henrique de Oliveira Garcia, Leandro Magalhães de Souza, Cristiane Gomes da Silva, Caio Luiz Pereira Ribeiro, Andréa Cony Cavalcanti, Claudia Maria Braga de Mello, Cláudio J. Struchiner, Amilcar Tanuri, Ana Tereza R de Vasconcelos
Publikováno v:
Viruses, Vol 13, Iss 10, p 2013 (2021)
In the present study, we provide a retrospective genomic epidemiology analysis of the SARS-CoV-2 pandemic in the state of Rio de Janeiro, Brazil. We gathered publicly available data from GISAID and sequenced 1927 new genomes sampled periodically from
Externí odkaz:
https://doaj.org/article/933eaa089797448b8aea8344f7e554a9
Autor:
Ronaldo da Silva Francisco Junior, Cristina dos Santos Ferreira, Juan Carlo Santos e Silva, Douglas Terra Machado, Yasmmin Côrtes Martins, Victor Ramos, Gustavo Simões Carnivali, Ana Beatriz Garcia, Enrique Medina-Acosta
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Despite being developed from one zygote, heterokaryotypic monozygotic (MZ) co-twins exhibit discordant karyotypes. Epigenomic studies in biological samples from heterokaryotypic MZ co-twins are of the most significant value for assessing the effects
Externí odkaz:
https://doaj.org/article/25bb5ec36a0d4a5383d8b0a85ce98061
Autor:
Graziela de Sá Machado Araújo, Ronaldo da Silva Francisco Junior, Cristina dos Santos Ferreira, Pedro Thyago Mozer Rodrigues, Douglas Terra Machado, Thais Louvain de Souza, Jozimara Teixeira de Souza, Cleiton Figueiredo Osorio da Silva, Antônio Francisco Alves da Silva, Claudia Caixeta Franco Andrade, Alan Tardin da Silva, Victor Ramos, Ana Beatriz Garcia, Filipe Brum Machado, Enrique Medina-Acosta
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
A hallmark of imprinted genes in mammals is the occurrence of parent-of-origin-dependent asymmetry of DNA cytosine methylation (5mC) of alleles at CpG islands (CGIs) in their promoter regions. This 5mCpG asymmetry between the parental alleles creates
Externí odkaz:
https://doaj.org/article/fd9af73e6f9e49efaae2bc8d0af70868
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