Browsing by Author "XX676498"

Now showing items 1-9 of 9

    • Alterations in Type I Hemidesmosome Components Suggestive of Epigenetic Control in the Salivary Glands of ... 
      González, Sergio; Aguilera, Sergio; Alliende, Cecilia; Urzúa Tobar, Ulises; Quest, Andrew F. G.; Herrera Cisterna, Luisa; Molina, Claudio; Hermoso Ramello, Marcela; Ewert, Patricia; Brito, Mónica; Romo, Rafael; Leyton Martínez, Cecilia; Pérez, Paola; González Burgos, María Julieta (2011-04)
      Objective. Acinar cells in the salivary glands of patients with Sjo¨gren’s syndrome (SS) display severe alterations in anchorage to the basal lamina. Bioinformatics analysis of the BP230 gene sequence has revealed the ...
    • Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene 
      Romero, Pablo; Vogel, Marlene; Díaz Pérez, José; Romero, Maria-Patricia; Herrera Cisterna, Luisa (MOLECULAR VISION, 2008-05-07)
      Purpose: To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family. Methods: Six affected family members were examined clinically including visual ...
    • Association of GST M1 null polymorphism with Parkinson's disease in a Chilean population with a strong ... 
      Pérez Pastene, Carolina; Graumann, Rebecca; Díaz Grez, Fernando; Miranda, Marcelo; Venegas Francke, Pablo; Trujillo Godoy, Osvaldo; Layson, Luis; Villagra, Roque; Matamala, José Manuel; Herrera Cisterna, Luisa; Segura Aguilar, Juan (2007)
      We have studied the association of a null mutation of Glutathione Transferase M1 (GST M1 *0/0) with Parkinson's disease (MIM 168600) in a Chilean population with a strong Amerindian genetic component. We determined the ...
    • 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 ...
    • Estudio clínico genético en pacientes con complejo de esclerosis tuberosa 
      Rubilar, Carla; Liendo López, Francisca Carolina; Troncoso Schifferli, Lucy Mónica; Barrios, Andrés; Herrera Cisterna, Luisa (Sociedad Chilena de Pediatría, 2017)
      Introducción: El complejo de esclerosis tuberosa (CET) es una enfermedad autosómica dominante multisistémica producida por mutaciones en los genes supresores de tumores TSC1 o TSC2. Objetivo: Caracterizar clínica y ...
    • Expansión anormal de hexanucleótido en gen C9orf72 en una familia con demencia frontotemporal y cuadros asociados 
      Miranda C., Marcelo; Bustamante Calderón, María Leonor; Herrera Cisterna, Luisa (Sociedad Médica de Santiago, 2017)
      Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions ...
    • Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A ... 
      Troncoso, Mónica; Balut Oyarzún, Fernanda; Witting Enríquez, Scarlet; Rubilar Parra, Carla; Carrera, Jorge; Cartes, Fabiola; Herrera Cisterna, Luisa (Wiley, 2021)
      It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy.
    • NOD2/CARD15 and Toll-like 4 receptor gene polymorphism in Chilean patients with inflammatory bowel disease 
      Figueroa, Carolina; Peralta, Alexis; Herrera Cisterna, Luisa; Castro, Pedro; Gutiérrez, Andrea; Valenzuela Escobar, Jorge; Aguillón Gutiérrez, Juan Carlos; Quera Pino, Rodrigo; Hermoso Ramello, Marcela (JOHN LIBBEY EUROTEXT LTD, 2006-06)
      Crohn's disease (CD) and ulcerative colitis (UC) are multifactorial diseases with a genetic background. Genes related to the innate immune response have been observed to be involved. Polymorphisms of Toll-like receptor 4 ...
    • Relationship of cortisol levels and genetic polymorphisms to antidepressant response to placebo and fluoxetine ... 
      Ventura Juncá, Raúl; Symon Maturana, Adriana; López, Pamela; Fiedler Temer, Jenny; Rojas Castillo, María Graciela; Heskia Vergara, Cristóbal; Lara, Pamela; Marín, Felipe; Guajardo, Viviana; Araya, A. Verónica; Sasso Aguirre, Jaime Alfredo; Herrera Cisterna, Luisa (BioMed Central, 2014)
      Background: Increased cortisol levels and genetic polymorphisms have been related to both major depressive disorder and antidepressant treatment outcome. The aim of this study is to evaluate the relationship between circadian ...