Výsledky vyhledávání - "Carlos Daniel de Brasi"

Akademický článek

Assessment of interleukin-10 promoter variant (−1082A/G) and cytokine production in patients with hemolytic uremic syndrome

Autor: Micaela Aldana Mongelos, Fernando Nicolás Sosa, Gonzalo Ezequiel Pineda, Gabriela Fiorentino, Adriana Santiago, Miguel Martín Abelleyro, Liliana Carmen Rossetti, Ramón Exeni, Carlos Daniel De Brasi, Marina Sandra Palermo, María Victoria Ramos

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

IntroductionHemolytic uremic syndrome (HUS) is a condition that results in acute kidney failure mainly in children, which is caused by Shiga toxin–producing Escherichia coli and inflammatory response. Although anti-inflammatory mechanisms are trigg

Externí odkaz: https://doaj.org/article/4346075b680c4f71aebc3126dd4f3fb4

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Akademický článek

Improved diagnosis of the transition to JAK2 (V⁶¹⁷F) homozygosity: the key feature for predicting the evolution of myeloproliferative neoplasms.

Autor: Mariana Selena Gonzalez, Carlos Daniel De Brasi, Michele Bianchini, Patricia Gargallo, Carmen Stanganelli, Ilana Zalcberg, Irene Beatriz Larripa

Publikováno v: PLoS ONE, Vol 9, Iss 1, p e86401 (2014)

Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. The outcomes of these cases are critically influenced by the trans

Externí odkaz: https://doaj.org/article/441e22a488964cb2a7be62b72a331408

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Akademický článek

5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivation.

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

Publikováno v: PLoS ONE, Vol 9, Iss 7, p e103714 (2014)

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://doaj.org/article/0619724d7a9d40a59d8c3622c9c79947

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Analysis of complex structural variants in the DMD gene in one family

Autor: Chiara Mazzanti, Liliana Francipane, Carlos Daniel de Brasi, Leonela Natalia Luce, Florencia Giliberto, Sebastián Menazzi, Pablo Lapunzina, Irene Szijan, Micaela Carcione, Liliana Carmen Rossetti, Julián Nevado, M. M. Abelleyro, Pamela Radic

Publikováno v: Neuromuscular disorders : NMD. 31(3)

This work describes a family with Duchenne muscular dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary aim was to suggest the molecul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f72edb5b82728a83bb2bea130fd931f
https://pubmed.ncbi.nlm.nih.gov/33451931

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Sphingosine kinase 1 participates in the activation, proliferation and survival of chronic lymphocytic leukemia cells

Autor: Mercedes Borge, Horacio Fernández-Grecco, Irma Slavutsky, Enrique Podaza, Raimundo F. Bezares, Pablo Oppezzo, Romina Gamberale, Carmen Stanganelli, Ana Colado, Rubén Ángel Burgos, Julio César Sánchez-Ávalos, Santiago Cranco, Mirta Giordano, Carlos Daniel De Brasi, Denise Risnik, María Belén Almejún, Esteban Enrique Elías, María Cabrejo

Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Sphingosine kinases (SKs) have received the most attention as important enzymes in cancer biology. They participate in the regulation of bioactive sphingolipid metabolism by producing sphingosine-1 phosphate (S1P) which mediates several biological fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886190e757d0c8d81a940efd82b467a6
https://doi.org/10.3324/haematol.2017.167353

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Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A

Autor: Claudia Pamela Radic, Miguel Martin Abelleyro, Vanina Daniela Marchione, Tomás Tetzlaff, Karen Waisman, D. Neme, Liliana Carmen Rossetti, Carlos Daniel de Brasi

Publikováno v: Human mutationREFERENCES. 41(4)

Hemophilia A (HA) provides excellent models to analyze genotype-phenotype relationships and mutational mechanisms. NhF8ld's breakpoints were characterized using case-specific DNA-tags, direct- or inverse-polymerase chain reaction amplification, and S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666ff699caf3c3d95468b4391673b4df
https://pubmed.ncbi.nlm.nih.gov/31898853

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