Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Patricio González-Hormazábal"'
Autor:
María Clara Arteaga-Jacobo, Ángel Roco-Videla, Claudio Villota Arcos, Patricio González-Hormazábal, Víctor Gonzalo-Castro, María Virginia Pérez-Flores
Publikováno v:
Medicina, Vol 60, Iss 7, p 1145 (2024)
Background and Objectives: Congenital thyroid dyshormonogenesis is caused by alterations in the synthesis of thyroid hormones in a newborn. Additionally, 10 to 20% of these cases are hereditary, caused by defects in proteins involved in hormonal synt
Externí odkaz:
https://doaj.org/article/8b7808c6755b45cf86a9e198fa3d6130
Autor:
Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A. Bevilacqua
Publikováno v:
Genes, Vol 13, Iss 6, p 1076 (2022)
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Ch
Externí odkaz:
https://doaj.org/article/b6d4a30088a545e0b6883988fde21b16
Autor:
José Suazo, Carlos Salamanca, Patricio González-Hormazábal, Gabriela Cáceres-Rojas, Roberto Pantoja, Noemi Leiva, Rosa Pardo
Publikováno v:
Epigenomics. 14:987-993
Aim: To assess the association between PEMT variants and nonsyndromic cleft lip with or without cleft palate in Chile and the effects of these variants on global DNA methylation. Subjects & methods: The authors obtained genotypes for nine variants fr
Autor:
Bevilacqua, Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A.
Publikováno v:
Genes; Volume 13; Issue 6; Pages: 1076
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Ch
Autor:
José Suazo, Carlos Salamanca, Gabriela Cáceres-Rojas, Patricio González-Hormazábal, Roberto Pantoja, Noemi Leiva, Rosa Pardo
Publikováno v:
Reproductive sciences (Thousand Oaks, Calif.). 29(10)
The aims of this study were to assess the association between polymorphisms within genes involved in vitamin B12 transport and nonsyndromic cleft lip with or without cleft palate (NSCL/P) and global DNA methylation in Chile. From 247 cases and 453 co
Autor:
Sebastian Morales-Pison, Patricio Gonzalez-Hormazabal, Julio C. Tapia, Alexis Salas-Burgos, Sandra Ampuero, Fernando Gómez, Enrique Waugh, José Miguel Reyes, Lilian Jara
Publikováno v:
Biological Research, Vol 55, Iss 1, Pp 1-11 (2022)
Abstract Background Driver mutations are the genetic components responsible for tumor initiation and progression. These variants, which may be inherited, influence cancer risk and therefore underlie many familial cancers. The present study examines t
Externí odkaz:
https://doaj.org/article/05d1640173ac4906a08fe7b0724f4c1a
Autor:
Lisanne, Woudt, Gabriella A, Di Capua, Martin, Krahn, Claudia, Castiglioni, Ricardo, Hughes, Mario, Campero, Alejandra, Trangulao, Patricio, González-Hormazábal, Raúl, Godoy-Herrera, Nicolas, Lévy, Jon Andoni, Urtizberea, Lilian, Jara, Jorge A, Bevilacqua
Publikováno v:
Musclenerve. 53(1)
Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using validated scales.
Autor:
Patricio Gonzalez-Hormazabal, Diana Pelaez, Maher Musleh, Marco Bustamante, Juan Stambuk, Raul Pisano, Hector Valladares, Enrique Lanzarini, Hector Chiong, Jose Suazo, Luis A. Quiñones, Nelson M. Varela, V. Gonzalo Castro, Lilian Jara, Zoltan Berger
Publikováno v:
Biological Research, Vol 54, Iss 1, Pp 1-7 (2021)
Abstract Background Helicobacter pylori is detected by pathogen recognition receptors including toll-like receptors (TLR) and nucleotide-binding oligomerization domain (NOD)-like receptors, eliciting an innate immune response against this bacteria. T
Externí odkaz:
https://doaj.org/article/30bf55954e3447cbbb521dd2e2a60411
Autor:
Natalia Landeros, Patricio Gonzalez-Hormazabal, Pablo Pérez-Moreno, Julio C. Tapia, Lilian Jara
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 15418 (2022)
Variants in genes encoding for microRNAs have been associated with their deregulation in breast cancer (BC). Sequencing of microRNAs deregulated in BC was performed using DNA from Chilean patients with a strong family history and negative for mutatio
Externí odkaz:
https://doaj.org/article/6fbc951ce0ac46098ec3e9f928d9d74e
Autor:
Karen Toledo-Stuardo, Carolina H. Ribeiro, Andrea Canals, Marcela Morales, Valentina Gárate, Jose Rodríguez-Siza, Samantha Tello, Marco Bustamante, Ricardo Armisen, Douglas J. Matthies, Gerald Zapata-Torres, Patricio González-Hormazabal, María Carmen Molina
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Gastric cancer (GC) is the fifth most prevalent type of cancer worldwide. Gastric tumor cells express MICA protein, a ligand to NKG2D receptor that triggers natural killer (NK) cells effector functions for early tumor elimination. MICA gene is highly
Externí odkaz:
https://doaj.org/article/02f09a46dea9477abb0bd5e8618ee019