Browsing by Author "XX612118"
Now showing items 1-19 of 19
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Absence of CHEK2 1100delC mutation in familial breast cancer cases from a South American population González Hormazábal, Patricio; Castro, Víctor G.; Blanco Castillo, Rafael; Gómez, Fernando; Peralta Musre, Octavio; Waugh, Enrique; Bravo, Teresa; Reyes, José Miguel; Jara Sosa, Lilian (SPRINGER, 2008-08)
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González Hormazábal, Patricio; Bravo, Teresa; Blanco Castillo, Rafael; Valenzuela, Carlos Y.; Gómez, Fernando; Waugh, Enrique; Peralta Musre, Octavio; Ortúzar, Waldo; Reyes, José Miguel; Jara Sosa, Lilian (BIOMED CENTRAL LTD, 2008-04-23)Background: The ATM gene has been frequently involved in hereditary breast cancer as a low-penetrance susceptibility gene but evidence regarding the role of ATM as a breast cancer susceptibility gene has been contradicto ...
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Elematore, Isabel; González Hormazábal, Patricio; Reyes, José M.; Blanco Castillo, Rafael; Bravo, Teresa; Peralta Musre, Octavio; Gómez, Fernando; Waugh, Enrique; Margarit, Sonia; Ibáñez, Gladys; Romero Osses, Carmen; Pakomio, Janara; Roizen, Rigia; Di Capua, Gabriella A.; Jara Sosa, Lilian (Springer, 2014)Recent Genome-Wide Association Studies have identified several single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) among women of Asian, European, and African-American ancestry. Nevertheless, the ...
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Leyton, Yessica; González Hormazábal, Patricio; Blanco Castillo, Rafael; Bravo, Teresa; Fernández Ramires, Ricardo; Morales, Sebastián; Landeros, Natalia; Reyes, José M.; Peralta Musre, Octavio; Tapia, Julio C.; Gómez, Fernando; Waugh, Enrique; Ibáñez, Gladys; Pakomio, Janara; Grau, Gilberto; Jara Sosa, Lilian (BioMed Central, 2015)Background Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer (BC) in several populations. Nevertheless its contribution in the South-American population is unknown. The goal ...
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Morales, Sebastián; Fernández Remires, Ricardo; Tapia, Julio; Jara Sosa, Lilian (Spandidos Publications Ltd., 2017)
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Jara Sosa, Lilian; Ampuero Llanos, Sandra; Santibáñez, Eudocia; Seccia, Lorena; Rodríguez, Juan; Bustamante, Mario; Martínez, Víctor; Catenaccio, Alejandra; Lay-Son, Guillermo; Blanco Castillo, Rafael; Reyes, José Miguel (ELSEVIER, 2006-04-01)A sample of 64 high-risk breast and/or ovarian cancer families from Chile were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIN no. 113705) and BRCA2 (MIN no. 600185) genes ...
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Bevilacqua, Jorge; Mathieu, Y.; Krahn, M.; Bartoli, M.; Castiglioni, C.; Kleinsteuber Saa, Karin; Díaz Jeraldo, Juan; Puppo, F.; Cerino, M.; Courrier, S.; Gorokhova, S.; Miranda Moreno, Natalia; Trangulao, Alejandra; González Hormazábal, Patricio; Avaria Benapres, María de los Angeles; Urtizberea, J.; Caviedes Fernández, Pablo; Jara Sosa, Lilian; Levy, N. (Pergamon-Elsevier Science, 2016)
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Elematore Carrasco, Isabel Patricia (Universidad de Chile, 2013-01)A nivel mundial, el cáncer de mama (CM), es el más frecuente y la principal causa de muerte por cáncer en mujeres, representando el 23% del total de casos nuevos de cáncer y el 14% del total de muertes por cáncer. En Chile, ...
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Villanueva Bianchini, Pía; Nudel, Ron; Hoischen, Alexander; Fernández, María Angélica; Simpson, Nuala H.; Gilissen, Christian; Reader, Rose H.; Jara Sosa, Lilian; Echeverry, María Magdalena; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; O’Hare, Anne; Bolton, Patrick F.; Hennessy, Elizabeth R.; Palomino, Hernán; Carvajal Carmona, Luis; Veltman, Joris A.; Cazier, Jean-Baptiste; Barbieri Ortiz, Zulema de,; Fisher, Simon E.; Newbury, Dianne F. (Public Library Science, 2015)Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic ...
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Jara Sosa, Lilian; González Hormazábal, Patricio; Cerceño, Kerube; Di Capua, Gabriella A.; Reyes, José M.; Blanco Castillo, Rafael; Bravo, Teresa; Peralta Musre, Octavio; Gómez, Fernando; Waugh, Enrique; Margarit, Sonia; Gladys, Ibáñez; Romero Osses, Carmen; Pakomio, Janara; Roizen, Gigia (SPRINGER, 2012-12-07)Genome-Wide Association Studies have identified several loci associated with breast cancer (BC) in populations of different ethnic origins. One of the strongest associations was found in the FGFR2 gene, and MAP3K1 has ...
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Fernández Moya, Alejandro; Morales, Sebastián; Arancibia, Trinidad; González Hormazábal, Patricio; Tapia, Julio; Godoy Herrera, Raúl; Reyes, José Miguel; Gómez, Fernando; Waugh, Enrique; Jara Sosa, Lilian (MDPI, 2020)The genetic variations responsible for tumorigenesis are called driver mutations. In breast cancer (BC), two studies have demonstrated that germline mutations in driver genes linked to sporadic tumors may also influence ...
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Mayo, Tomas de; Ziegler, Annemarie; Morales, Sebastián; Jara Sosa, Lilian (MDPI, 2018)Micro-RNAs (miRNAs) have emerged as novel gene expression regulators. Recent evidence strongly suggests a role for miRNAs in a large variety of cancer-related pathways. Different studies have shown that 18.7 to 37% of all ...
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Mayo, Tomas de; Ziegler, Marie Anne; Jara Sosa, Lilian (Spandidos Publications Ltd., 2017)
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Landeros, Natalia; Tapia Pineda, Julio; González Hormazábal, Patricio; Jara Sosa, Lilian (Spandidos Publications Ltd., 2017)
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Suazo, José; Santos, José Luis; Jara Sosa, Lilian; Blanco Castillo, Rafael (WILEY-LISS, DIV JOHN WILEY & SONS INC, 2008-10-15)
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Pérez Moreno, Pablo; Quezada Meza, Camila; Chávez Almarza, Cristopher; Niechi, Ignacio; Silva Pavez, Eduardo; Trigo Hidalgo, César; Aguayo González, Francisco; Jara Sosa, Lilian; Cáceres Verschae, Albano; Varas Godoy, Manuel; Díaz, Víctor M.; García de Herreros, Antonio; Burzio, Verónica A.; Tapia Pineda, Julio (Frontiers Media, 2020)Endothelin-converting enzyme-1 (ECE1) activates the endothelin-1 peptide, which upregulates pathways that are related to diverse hallmarks of cancer. ECE1 is expressed as four isoforms differing in their N-terminal domains. ...
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Solano, Ángela R.; Palmero, Edenir I.; Delgado, Lucía; Carraro, Dirce M.; Ortíz López, Rocío; Carranza, Claudia L.; Santamaría, Carlos; Cifuentes, Laura; Jara Sosa, Lilian; Toland, Amanda E. (Nature, 2020)
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González Hormazábal, Patricio; Gutiérrez Enriquez, Sara; Gaete, Daniel; Reyes, José M.; Peralta Musre, Octavio; Waugh, Enrique; Gómez, Fernando; Margarit, Sonia; Bravo, Teresa; Blanco Castillo, Rafael; Diez, Orland; Jara Sosa, Lilian (SPRINGER, 2011-04)The distribution of BRCA1/2 germline mutations in breast/ovarian cancer (BC/OC) families varies among different populations. In the Chilean population, there are only two reports of mutation analysis of BRCA1/2, and these ...
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Álvarez Duarte, Eduardo; Pino Castillo, Francisco del; Jara Sosa, Lilian; Godoy Herrera, Raúl (Public Library Science, 2017)The genetics and epigenetic processes associated with morphological organization are a principal aim of biology, ranging from cohesion between cells to shape and size of organisms. We investigate the post-embryonic development ...