Browsing by Author "6e19dffa-9413-411a-bc16-6ab6b53ecec7"
Now showing items 1-8 of 8
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Suazo, José; Santos, José Luis; Jara, Lilian; Blanco, Rafael (Brazilian Journal of Genetics, 2008)Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with features of a complex genetic trait. Several studies have reported positive association and linkage between NSCLP and microsatellite markers in the ...
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Blanco, Rafael; Colombo, Alicia; Pardo, Rosa; Suazo, José (Blackwell Munksgaard, 2017)© 2017 Eur J Oral Sci Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, the etiology of which can be dependent on the interactions of multiple genes. We ...
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Pardo, Rosa; Suazo, José; Castillo, Silvia; Vargas, Marcela; Zalavari, Andrea; Santos, José Luis; Blanco, Rafael; Rotter, Karin; Solar, Margarita; Tapia, Eva (Sociedad Medica de Santiago, 2014)Background: Mandatory fortification with folic acid (FA) was implemented in Chile in 2000. Thereafter, the rate of spina bifda decreased by 52 to 55%. Genetic abnormalities in folate metabolism may be involved in the ...
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Jara, Lilian; Ampuero Llanos, Sandra; Santibáñez, Eudocia; Seccia, Lorena; Rodríguez, Juan; Bustamante, Mario; Lay-Son, Guillermo; Ojeda, José Manuel; Reyes, José Miguel; Blanco, Rafael (Society of Biology of Chile, 2004)BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, ...
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Suazo, José; Santos, José Luis; Jara, Lilian; Blanco, Rafael (2010)Based on association and sequencing studies, investigators have postulated muscle segment homeobox 1 (MSX1) as a strong candidate gene involved in the causation of nonsyndromic cleft lip with or without cleft palate (NSCLP). ...
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Jara, Lilian; Acevedo, Monica L.; Blanco, Rafael; Castro, Victor G.; Bravo, Teresa; Gómez, Fernando; Waugh, Enrique; Peralta, Octavio; Cabrera, Elsa; Reyes, José M.; Ampuero Llanos, Sandra; González Hormazábal, Patricio (2007)Several studies have reported that mutations in genes involved in maintenance of genome integrity may be responsible for increased cancer risk. Human RAD51, known to function in DNA repair, interacts with a number of ...
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González Hormazábal, Patricio; Reyes, Jose M.; Blanco, Rafael; Bravo, Teresa; Carrera, Ignacio; Peralta, Octavio; Gomez, Fernando; Waugh, Enrique; Margarit, Sonia; Ibañez, Gladys; Santos, José Luis; Jara, Lilian (2012)Since the discovery of the BRCA1 and BRCA2 genes, much work has been carried out to identify further breast cancer (BC) susceptibility genes. BARD1 (BRCA1-associated ring domain) was originally identified as a BRCA1-interacting ...
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Jara, Lilian; Dubois, Karen; Gaete, Daniel; De Mayo, Tomas; Ratkevicius, Nikalai; Bravo, Teresa; Margarit, Sonia; Blanco, Rafael; Gómez, Fernando; Waugh, Enrique; Peralta, Octavio; Reyes, Jose M.; Ibáñez, Gladys; González Hormazábal, Patricio (Springer New York, 2010)The double-strand break (DSB) DNA repair pathway has been implicated in breast cancer (BC). RAD51 and its paralogs XRCC3 and RAD51D play an important role in the repair of DSB through homologous recombination (HR). Some ...