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  1. Article ; Online: Epigenetic regulation of transcription factor binding motifs promotes Th1 response in Chagas disease cardiomyopathy.

    Brochet, Pauline / Ianni, Barbara Maria / Laugier, Laurie / Frade, Amanda Farage / Silva Nunes, João Paulo / Teixeira, Priscila Camillo / Mady, Charles / Ferreira, Ludmila Rodrigues Pinto / Ferré, Quentin / Santos, Ronaldo Honorato Barros / Kuramoto, Andreia / Cabantous, Sandrine / Steffen, Samuel / Stolf, Antonio Noedir / Pomerantzeff, Pablo / Fiorelli, Alfredo Inacio / Bocchi, Edimar Alcides / Pissetti, Cristina Wide / Saba, Bruno /
    Cândido, Darlan da Silva / Dias, Fabrício C / Sampaio, Marcelo Ferraz / Gaiotto, Fabio Antônio / Marin-Neto, José Antonio / Fragata, Abílio / Zaniratto, Ricardo Costa Fernandes / Siqueira, Sergio / Peixoto, Giselle De Lima / Rigaud, Vagner Oliveira-Carvalho / Bacal, Fernando / Buck, Paula / Almeida, Rafael Ribeiro / Lin-Wang, Hui Tzu / Schmidt, André / Martinelli, Martino / Hirata, Mario Hiroyuki / Donadi, Eduardo Antonio / Costa Pereira, Alexandre / Rodrigues Junior, Virmondes / Puthier, Denis / Kalil, Jorge / Spinelli, Lionel / Cunha-Neto, Edecio / Chevillard, Christophe

    Frontiers in immunology

    2022  Volume 13, Page(s) 958200

    Abstract: Chagas disease, caused by the ... ...

    Abstract Chagas disease, caused by the protozoan
    MeSH term(s) Chagas Cardiomyopathy ; Chagas Disease/genetics ; Epigenesis, Genetic ; Humans ; Transcription Factors/genetics ; Trypanosoma cruzi
    Chemical Substances Transcription Factors
    Language English
    Publishing date 2022-08-22
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2022.958200
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Polymorphism in the alpha cardiac muscle actin 1 gene is associated to susceptibility to chronic inflammatory cardiomyopathy.

    Frade, Amanda Farage / Teixeira, Priscila Camilo / Ianni, Barbara Maria / Pissetti, Cristina Wide / Saba, Bruno / Wang, Lin Hui Tzu / Kuramoto, Andréia / Nogueira, Luciana Gabriel / Buck, Paula / Dias, Fabrício / Giniaux, Helene / Llored, Agnes / Alves, Sthefanny / Schmidt, Andre / Donadi, Eduardo / Marin-Neto, José Antonio / Hirata, Mario / Sampaio, Marcelo / Fragata, Abílio /
    Bocchi, Edimar Alcides / Stolf, Antonio Noedir / Fiorelli, Alfredo Inacio / Santos, Ronaldo Honorato Barros / Rodrigues, Virmondes / Pereira, Alexandre Costa / Kalil, Jorge / Cunha-Neto, Edecio / Chevillard, Christophe

    PloS one

    2013  Volume 8, Issue 12, Page(s) e83446

    Abstract: Aims: Chagas disease, caused by the protozoan Trypanosoma cruzi is endemic in Latin America, and may lead to a life-threatening inflammatory dilated, chronic Chagas cardiomyopathy (CCC). One third of T. cruzi-infected individuals progress to CCC while ... ...

    Abstract Aims: Chagas disease, caused by the protozoan Trypanosoma cruzi is endemic in Latin America, and may lead to a life-threatening inflammatory dilated, chronic Chagas cardiomyopathy (CCC). One third of T. cruzi-infected individuals progress to CCC while the others remain asymptomatic (ASY). A possible genetic component to disease progression was suggested by familial aggregation of cases and the association of markers of innate and adaptive immunity genes with CCC development. Since mutations in multiple sarcomeric genes, including alpha-cardiac actin (ACTC1) have been involved in hereditary dilated cardiomyopathy, we investigated the involvement of the ACTC1 gene in CCC pathogenesis.
    Methods and results: We conducted a proteomic and genetic study on a Brazilian study population. The genetic study was done on a main cohort including 118 seropositive asymptomatic subjects and 315 cases and the replication was done on 36 asymptomatic and 102 CCC cases. ACTC1 protein and mRNA levels were lower in myocardial tissue from patients with end-stage CCC than those found in hearts from organ donors. Genotyping a case-control cohort of CCC and ASY subjects for all informative single nucleotide polymorphism (SNP) in the ACTC1 gene identified rs640249 SNP, located at the 5' region, as associated to CCC. Associations are borderline after correction for multiple testing. Correlation and haplotype analysis led to the identification of a susceptibility haplotype. Functional assays have shown that the rs640249A/C polymorphism affects the binding of transcriptional factors in the promoter regions of the ACTC1 gene. Confirmation of the detected association on a larger independent replication cohort will be useful.
    Conclusions: Genetic variations at the ACTC1 gene may contribute to progression to chronic Chagas Cardiomyopathy among T. cruzi-infected patients, possibly by modulating transcription factor binding to ACTC1 promoter regions.
    MeSH term(s) Actins/genetics ; Actins/metabolism ; Chagas Cardiomyopathy/genetics ; Female ; Gene Expression Regulation ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Myocardium/metabolism ; Polymorphism, Single Nucleotide ; RNA, Messenger/genetics ; RNA, Messenger/metabolism
    Chemical Substances ACTC1 protein, human ; Actins ; RNA, Messenger
    Language English
    Publishing date 2013-12-19
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0083446
    Database MEDical Literature Analysis and Retrieval System OnLINE

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