Now showing items 1-10 of 10

    • Alterations in Type I Hemidesmosome Components Suggestive of Epigenetic Control in the Salivary Glands of Patients With Sjögren’s Syndrome 

      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 Amerindian genetic component 

      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 ...
    • Clinical genetic study in patients with tuberous sclerosis complex 

      Rubilar, Carla; López, Francisca; Troncoso Schifferli, Lucy Mónica; Barrios, Andrés; Herrera Cisterna, Luisa (Sociedad Chilena de Pediatría, 2017)
      Introduction: Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. Objective: To characterize clinically and genetically patients ...
    • 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 ...
    • MUC1/SEC and MUC1/Y overexpression is associated with inflammation in Sjogren's syndrome 

      Sung Hsieh, Hsiao; Castro, I.; González, S.; Aguilera, S.; Smorodinsky, N. I.; Quest, Andrew F. G.; Bahamondes Lorca, Verónica; Alliende, Cecilia; Cortés, J.; Molina, Claudio; Urzúa Tobar, Ulises; Barrera, María José; Hermoso Ramello, Marcela; Herrera Cisterna, Luisa; Leyton Martínez, Cecilia; González Burgos, María Julieta (Wiley-Blackwell, 2015)
      OBJECTIVES: To evaluate the expression and localization of MUC1/SEC and MUC1/Y isoforms in labial salivary glands (LSG) from Sj€ogren’s syndrome patients (SS patients), as well as their in vitro expression induced by ...
    • 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 ...
    • Psychotherapy and genetic neuroscience: an emerging dialog 

      Jiménez de la Jara, Juan Pablo; Botto Valle, Alberto; Herrera Cisterna, Luisa; Leighton Geddes, Caroline; Rossi Mery, José; Quevedo Labbé, Iván; Silva, Jaime R.; Martínez, Felipe; Assar, Rodrigo; Salazar, Luis A.; Ortiz, Manuel; Ríos, Ulises; Barros Vergara, Paulina; Jaramillo, Karina; Luyten, Patrick (Frontiers Media, 2018-07-17)
      Recent research in psychiatric genetics has led to a move away from simple diathesis-stress models to more complex models of psychopathology incorporating a focus on gene-environment interactions and epigenetics. Our ...
    • Relationship of cortisol levels and genetic polymorphisms to antidepressant response to placebo and fluoxetine in patients with major depressive disorder: a prospective study 

      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 ...