Browsing by Subject "Polymorphism"

Now showing items 21-33 of 33

    • On polymorphism for discrete evolutionary dynamics driven either by selection or segregation distortion 
      Huillet, Thierry; Martínez Aguilera, Servet; Möhle, Martin (Springer, 2018-05)
      We revisit some problems arising in the context of multiallelic discrete-time and deterministic evolutionary dynamics driven first by fitness differences and then by segregation distortion. In the model with fitness, we ...
    • P2X7 receptor is essential for cross-dressing of bone marrow-derived dendritic cells 
      Barrera Ávalos, Carlos; Briceño, Pedro; Valdés, Daniel; Imarai, Mónica; Leiva Salcedo, Elías; Rojo, Leonel E.; Milla, Luis A.; Huidobro Toro, Juan Pablo; Robles Planells, Claudia; Escobar Álvarez, Alejandro; Di Virgilio, Francesco; Morón, Gabriel; Sauma Mahaluf, Daniela Macarena; Acuña Castillo, Claudio (Cell, 2021)
      T cell activation requires the processing and presentation of antigenic peptides in the context of a major histocompatibility complex (MHC complex). Cross -dressing is a non-conventional antigen presentation mechanism, ...
    • Plausible sealing for gradual parametricity 
      Labrada Deniz, Elizabeth; Toro Ipinza, Matías; Tanter, Eric Pierre; Devriese, Dominique (Assoc Computing Machinery, 2022)
      Graduality and parametricity have proven to be extremely challenging notions to bring together. Intuitively, enforcing parametricity gradually requires possibly sealing values in order to detect violations of uniform ...
    • Polymorphisms in RAS/RAF/MEK/ERK pathway are associated with gastric cancer 
      González Hormazábal, Patricio; Musleh, Maher; Bustamante, Marco; Stambuk, Juan; Pisano, Raul; Valladares, Hector; Lanzarini, Enrique; Chiong, Hector; Rojas, Jorge; Suazo, Jose; Gonzalo Castro, V.; Jara, Lilian; Berger, Zoltan (MDPI AG, 2019)
      The RAS/RAF/MEK/ERK pathway regulates certain cellular functions, including cell proliferation, differentiation, survival, and apoptosis. Dysregulation of this pathway leads to the occurrence and progression of cancers ...
    • Polymorphisms of MAMLD1 gene in hypospadias 
      Kalfa, N.; Cassorla Goluboff, Fernando; Audran, F.; Oulad Abdennabi, I.; Philibert, P.; Béroud, C.; Guys, J. M.; Reynaud, R.; Alessandrini, P.; Wagner, K.; Bréaud, J.; Valla, J. S.; Morisson Lacombe, G.; Daures, J. P.; Baskin, L.; Fukami, M.; Ogata, T.; Sultan, C. (2011)
      Purpose: Mastermind-like domain containing 1 (MAMLD1) is a causative gene for the fetal development of male external genitalia. Almost 10% of patients with both severe and non-severe hypospadias exhibit mutations of MAMLD1. ...
    • Preliminary pharmacogenomic-based predictive models of tamoxifen response in hormone-dependent chilean ... 
      Miranda, Carla; Galleguillos, Macarena; Torres, Roberto; Tardon, Karla; Cáceres Lillo, Dante; Lee, Kuen-shiou; Redal, María A.; Varela, Nelson M.; Quiñones Sepúlveda, Luis Abel (Frontiers Media, 2021)
      Tamoxifen (TAM), a selective oestrogen receptor modulator, is one of the most used treatments in oestrogen receptor-positive (ER+) early and metastatic breast cancer (BC) patients. The response to TAM has a high degree of ...
    • Prevalence of seven cardiovascular-related genetic polymorphisms in a Chilean mestizo healthy population 
      Roco, Angela; Quiñones Sepúlveda, Luis; Sepúlveda, Pablo; Donoso, Hernán; Lapostol, Carolina; Alarcón, Romina; Torres, María E.; Véliz, Paulo C.; Acuña, Guillermo; Wilke, Oscar; Acevedo, Cristian (Acta Cardiológica, 2015)
      Objective Among the genetic factors associated with cardiovascular disease (CVD), determining polymorphic genotypes could help to understand the appearance of the illness. Ethnic differences in these polymorphisms could ...
    • Retrosynthesis of CaCO3 via amorphous precursor particles using gastroliths of the Red Claw lobster (Cherax ... 
      Neira Carrillo, Andrónico; Fernández Garay, María Soledad; Poblete Hevia, Gonzalo Andrés; Arias Bautista, José Luis; Gebauer, Denis; Coelfen, Helmut (Elsevier, 2017)
      Gastroliths are highly calcified structures formed in the cardiac stomach wall of crustaceans for the temporary storage of amorphous CaCO3 (ACC). The gastrolithic ACC is stabilized by the presence of biomolecules, and ...
    • Role of cytochrome P450 enzymes in the metabolism of antineoplastic drugs Papel de las enzimas citocromo ... 
      Quiñones, Luis S.; Rosero, Mario P.; Roco, Ángela A.; Moreno, Iván T.; Sasso, Jaime A.; Varela, Nelson F.; Cáceres, Dante L.; Saavedra, Iván S. (2008)
      Cytochrome P450 enzymes are very important to metabolize anti-carcinogenic agents. Therefore, understanding the role of these enzymes and their allele variants in the bioactivation or detoxification of drugs could greatiy ...
    • Short repeats in the heme oxygenase 1 gene promoter is associated with increased levels of inflammation, ... 
      Andrews, Mónica; Leiva, Elba; Arredondo Olguin, Miguel Armando (Elsevier GMBH, 2016)
      Objective: We evaluated the relationship between the HO1 genotype, ferritin levels and the risk of type-2 diabetes and inflammation. Research methods: Eight hundred thirty-five individuals were evaluated and classified ...
    • T-cell receptor variable alpha (TCRAV) polymorphisms in European, Chinese, South American, AfroCaribbean, ... 
      Ibberson, Mark R.; Copier, John P.; Llop Romero, Elena; Navarrete, Cristina; Hill, Adrian V.S.; Cruickshank, J. Kennedy; So, Alex K.L. (1998)
      Interactions involving the T-cell receptor (TCR) and major histocompatibility complex (MHC) are fundamental to the generation of a specific immune response. The study of interpopulation differences in TCR genes may identify ...
    • The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population 
      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 ...
    • Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population 
      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 ...