An updated examination of the perception of barriers for pharmacogenomics implementation and the usefulness of drug/gene pairs in Latin America and the Caribbean

Autor: Aimeé Salas-Hernández, Macarena Galleguillos, Matías Carrasco, Andrés López-Cortés, María Ana Redal, Dora Fonseca-Mendoza, Patricia Esperón, Farith González-Martínez, Ismael Lares-Asseff, Alberto Lazarowski, Verónica Loera-Castañeda, Diadelis Remírez, Matías F. Martínez, Rodrigo Vargas, Fabricio Rios-Santos, Antonio Macho, Juan P. Cayún, Germán R. Perez, Carolina Gutierrez, Leslie C. Cerpa, Tamara Leiva, Susan Calfunao, Lesly Xajil, Christopher Sandoval, Marcelo Suárez, Ariana Gonzalez, Gabriela Echeverría-Garcés, Luis Sullón-Dextre, Eugenia Cordero-García, Alexis R. Morales, Andrea Avendaño, Enrique Sánchez, Laura C. Bastone, Cesar Lara, Patricia Zuluaga-Arias, Ana María Soler, Julio Da Luz, Gabriela Burgueño-Rodríguez, Marcelo Vital, Elizabeth Reyes-Reyes, Alexander Huaccha, Yeimy V. Ariza, Naomi Tzul, Ana L. Rendón, Roberto Serrano, Larissa Acosta, Angelo Motta-Pardo, Leonardo Beltrán-Angarita, Erika Brand, Miguel A. Jiménez, Gladys Maribel Hidalgo-Lozada, Marina M. J. Romero-Prado, Karla Escobar-Castro, Mariel Umaña-Rivas, Juan D. Vivas, Paola Lagos, Yineth Ballén Martínez, Sharleth Quesada, Camila Calfio, Maria L. Arias, María A. Lavanderos, Dante D. Cáceres, Alberto Salazar-Granara, Nelson M. Varela, Luis A. Quiñones

Publikováno v: Frontiers in Pharmacology, Vol 14 (2023)

Pharmacogenomics (PGx) is considered an emergent field in developing countries. Research on PGx in the Latin American and the Caribbean (LAC) region remains scarce, with limited information in some populations. Thus, extrapolations are complicated, e

Externí odkaz: https://doaj.org/article/cddef7cc0b5d4422b6589bf43ce85f02

Ancestry and TPMT-VNTR Polymorphism: Relationship with Hematological Toxicity in Uruguayan Patients with Acute Lymphoblastic Leukemia

Autor: Gabriela Burgueño-Rodríguez, Yessika Méndez, Natalia Olano, Agustín Dabezies, Bernardo Bertoni, Jorge Souto, Luis Castillo, Julio da Luz, Ana María Soler

Publikováno v: Frontiers in Pharmacology, Vol 11 (2020)

6-Mercaptopurine (6-MP) is a thiopurine drug widely used in childhood acute lymphoblastic leukemia (ALL) therapy. Genes such as TPMT and NUDT15 have an outstanding role in 6-MP metabolism. Mutations in both genes explain a significant portion of hema

Externí odkaz: https://doaj.org/article/e354c32ed32d4280b172d811e253c876

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Autor: Julio Da Luz, Amalia Ávila, Sandra Icasuriaga, María Gongóra, Luis Castillo, Alejandra Serrón, Elza Miyuki Kimura, Fernando Ferreira Costa, Mónica Sans, Maria de Fátima Sonati

Publikováno v: Genetics and Molecular Biology, Vol 36, Iss 3, Pp 316-322 (2013)

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected pat

Externí odkaz: https://doaj.org/article/601988c346994b18aa9b7f8d325b665c

Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia

Autor: Gisele Audrei Pedroso, Maria de Fátima Sonati, Julio da Luz, Ana María Soler, Lorena da Silveira, Enrique Savio, Pablo López, Bruna Facanali Piellusch

Publikováno v: Genetics and Molecular Biology
Genetics and Molecular Biology, Volume: 44, Issue: 2, Article number: e20200399, Published: 26 MAR 2021
Genetics and Molecular Biology, Vol 44, Iss 2 (2021)
Genetics and Molecular Biology v.44 n.2 2021
Sociedade Brasileira de Genética (SBG)
instacron:SBG

Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cd0b6603558d3383206ca72d86f58e
http://europepmc.org/articles/PMC7995682

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Autor: María Delia Góngora, Alejandra Serrón, Fernando Ferreira Costa, Amalia Ávila, Luis Castillo, Sandra Icasuriaga, Mónica Sans, Julio da Luz, Maria de Fátima Sonati, Elza Miyuki Kimura

Publikováno v: Genetics and Molecular Biology, Vol 36, Iss 3, Pp 316-322 (2013)
Genetics and Molecular Biology
Genetics and Molecular Biology v.36 n.3 2013
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 36, Issue: 3, Pages: 316-322, Published: 19 JUL 2013

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a38b225aae4d8e7040e7bdabd47543
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300003&lng=en&tlng=en