Browsing by Author "a0a93eff-02a8-450b-a5c9-006fa0c7289c"
Now showing items 1-16 of 16
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Rojas, Cecilia V.; Santa María, Lorena; Santos, José Luis; Cortés, Fanny; Alliende, María Angélica (2002)Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for α- and β-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in ...
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Santos, José Luis; Lera Marques, Lydia; Pérez Bravo, Francisco; Albala Brevis, Cecilia (2006)Background: It has been proposed that the toll-like receptor-4 gene (TLR4) may participate in the development of obesity and osteoporosis, in addition to its well-known role in the immune response. On the other hand, the ...
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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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Suazo, José; Smalley, Susan Valerie; Hodgson, María Isabel; Weisstaub, Gerardo; González, Andrea; Santos, José Luis (Sociedad Medica de Santiago, 2014)Background: Metabolic Syndrome (MS) is highly prevalent among obese children and adolescents and is considered a predictor for the development of type 2 diabetes mellitus and cardiovascular disease. Obesity is associated ...
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Mizgier, María Luisa; Cataldo, Luis R.; Gutierrez, Juan; Santos, José Luis; Casas, Mariana; Llanos Vidal, Paola; Contreras Ferrat, Ariel Eduardo; Moro, Cedric; Bouzakri, Karim; Galgani Fuentes, José (Hindawi Publishing Corporation, 2017)© 2017 Maria L. Mizgier et al. Fasting to postprandial transition requires a tight adjustment of insulin secretion to its demand, so tissue (e.g., skeletal muscle) glucose supply is assured while hypo-/hyperglycemia are ...
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Faster ticking rate of the epigenetic clock is associated with faster pubertal development in girls Binder, Alexandra M.; Corvalán Aguilar, Camila; Mericq, Verónica; Pereira Scalabrino, Ana; Santos, José Luis; Horvath, Steve; Shepherd, John; Michels, Karin B. (Taylor & Francis, 2018)Epigenetic age is an indicator of biological aging, capturing the impact of environmental and behavioral influences across time on cellular function. Deviance between epigenetic age and chronological age (AgeAccel) is a ...
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Cataldo, L. R.; Cortés, V. A.; Mizgier, María Luisa; Aranda, E.; Mezzano, D.; Olmos, P.; Galgani Fuentes, José; Suazo, J.; Santos, José Luis (Georg Thieme Verlag, 2015)© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart, New York. Introduction: Pancreatic β-cells synthetize and store Serotonin (5-Hydroxytriptamine, 5HT) which is co-released with insulin. It has been proposed that ...
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Suazo, José; Santos, José Luis; Colombo, Alicia; Pardo Vargas, Rosa (Elsevier, 2018-07)Objective: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a birth defect for which several genes susceptibility genes been proposed. Consequently, it has been suggested that many of these genes belong to ...
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Binder, Alexandra M.; Stiemsma, Leah T.; Keller, Kristen; Van Otterdijk, Sanne D.; Mericq, Verónica; Pereira, Ana; Santos, José Luis; Shepherd, John; Michels, Karin B. (BioMed Central Ltd., 2018)© 2018 The Author(s). Background: Estrogen receptor-α (ER-α) is a transcriptional regulator, which mediates estrogen-dependent breast development, as well as breast tumorigenesis. The influence of epigenetic regulation of ...
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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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Santos, José Luis; Ochoa, M. C.; Patiño, A.; Azcona, C.; Martínez, J. A.; Marti, A. (2005)Serotonin has been related to feeding behaviour and body weight control through its suppressive effect on appetite. Conflicting results have been published in the literature regarding the association between the -1438 G/A ...
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Cáceres Rojas, Gabriela; Salamanca, Carlos; Krause, Bernardo J.; Recabarren, Andrea S.; Recabarren, Pamela; Pantoja Parada, Pedro; Leiva Villagra, Noemi; Pardo Vargas, Rosa; Santos, José Luis; Suazo Sanhueza, José Lorenzo (Future Medicine, 2020)Aim: To evaluate the risk of nonsyndromic orofacial clefts (NSOFCs) associated with LINE-1 methylation, as a marker of global DNA methylation, and the effect of MTHFR functional variants on this variable. Patients & methods: ...
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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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Cataldo, Luis Rodrigo; Mizgier, María Luisa; Bravo Sagua, Roberto; Jaña, Fabián; Cárdenas, César; Llanos Vidal, Paola; Busso, Dolores; Olmos, Pablo; Galgani Fuentes, José; Santos, José Luis; Cortés, Víctor A. (Public Library of Science, 2017)© 2017 Cataldo et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
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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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Pérez Bravo, Francisco; Echiburú López, Bárbara; Maliqueo Yevilao, Manuel; Santos, José Luis; Sir Petermann, Lidia (BLACKWELL PUBLISHING LTD, 2005-02)Objective To establish the frequency of the Trp64Arg polymorphism of the beta3 adrenergic receptor (ADRB3) in women with polycystic ovary syndrome (PCOS) from a Chilean population, focusing particularly on the interaction ...