Browsing by Author "d903c4d7-6b72-45b4-ae1b-5e79d059049b"

Now showing items 1-8 of 8

    • Association between IRF6 variants and nonsyndromic cleft lip with or without cleft palate in Chile 
      Suazo Sanhueza, José; Recabarren, Andrea S.; Marín, Nicolás R.; Blanco Castillo, Rafael (Springer, 2020)
      The aim of this study was to assess the association betweenIRF6single nucleotide polymorphisms and nonsyndromic cleft lip, with or without cleft palate (NSCL/P), in a Chilean population, based on a case-control sample and ...
    • Development of a small panel of SNPs to infer ancestry in chileans that distinguishes Aymara and Mapuche components 
      Verdugo Salgado, Ricardo; Di Genova, Alex; Herrera Cisterna, Luisa; Moraga Vergara, Mauricio; Acuña Patzke, Mónica; Berríos del Solar, María Soledad; Llop Romero, Elena; Valenzuela, Carlos Y.; Bustamante Calderón, María Leonor; Digman, Dayhana; Symon Maturana, Adriana; Asenjo, Soledad; López Contreras, Pamela; Blanco, Alejandro E.; Suazo Sanhueza, José; Barozet, Emmanuelle; Caba, Fresia; Villalón Calderón, Marcelo; Alvarado Orellana, Sergio; Cáceres Lillo, Dante; Salgado, Katherine; Portales, Pilar; Moreno Estrada, Andrés; Gignoux, Christopher; Sandoval, Karla; Bustamante, Carlos; Eng, Celeste; Huntsman, Scott; Burchard, Esteban; Loira, Nicolás; Maass Sepúlveda, Alejandro; Cifuentes Ovalle, Lucía (Sociedad de Biología de Chile, 2020)
      Background Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may ...
    • Effects of folic acid fortification on orofacial clefts prevalence: a meta-analysis 
      Millacura, Natalia; Pardo Vargas, Rosa; Cifuentes Ovalle, Lucía; Suazo Sanhueza, José Lorenzo (Cambridge University Press, 2017)
      Objective: Orofacial clefts (OFC) are the most prevalent craniofacial birth defect. Folic acid (FA) supplementation has been demonstrated as an effective intervention to reduce risk of OFC occurrence. However, the effect ...
    • Inhibition of the 3-Hydroxy-3-Methyl-Glutaryl-CoA Reductase Induces Orofacial Defects in Zebrafish 
      Signore Ahumada, Iskra; Jerez, Carolina; Figueroa, Diego; Suazo Sanhueza, José Lorenzo; Marcelain Cubillos, Katherine; Cerda Arancibia, Óscar; Colombo Flores, Alicia (Wiley, 2016)
      Background: Orofacial clefts (OFCs) are common birth defects, which include a range of disorders with a complex etiology affecting formation of craniofacial structures. Some forms of syndromic OFCs are produced by defects ...
    • Maternal biomarkers of methylation status and non-syndromic orofacial cleft risk: a meta-analysis 
      Blanco Castillo, Rafael; Colombo Flores, Alicia; Pardo Vargas, Rosa; Suazo Sanhueza, José Lorenzo (Elsevier, 2016)
      Animal models have shown evidence of the role of maternal methyl donor status and its metabolism (one-carbon metabolism) in normal embryonic maxillofacial development. Nevertheless, studies in humans have shown conflicting ...
    • MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile 
      Ramírez Chau, Cristian Adolfo; Blanco Castillo, Rafael; Colombo Flores, Alicia; Pardo Vargas, Rosa; Suazo Sanhueza, José Lorenzo (Wiley Blackwell, 2016)
      Objective The functional variant within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non-syndromic cleft lip with or ...
    • Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants 
      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: ...
    • Untitled 
      Salamanca, Carlos; González Hormazábal, Patricio; Recabarren, Andrea S.; Recabarren, Pamela A.; Pantoja, Roberto; Leiva Villagra, Noemí; Pardo Vargas, Rosa; Suazo Sanhueza, José Lorenzo (2020)
      Background TheS-adenosyl-methionine (SAM) availability is crucial for DNA methylation, an epigenetic mechanism involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) expression. The aim of this study was ...