Browsing by Subject "Expression"

Now showing items 1-2 of 2

    • Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing ... 
      Tenorio, Jair; Alarcón Arias, Pablo; Arias, Pedro; Dapia, Irene; Garcia Minaur, Sixto; Bralo, María Palomares; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio; Monseny, Antonio; Grondona, Fermina; Botet, Javier; Serrano, Mercedes; Solis, Mario; Santos Simarro, Fernando; Alvarez, Sara; Teixido Tura, Gisela; Jaen, Alberto; Gordo, Gema; Rivera, María Belén; Nevado, Julián; Hernández, Alicia; Cigudosa, Juan C.; Ruiz Pérez, Víctor; Tizzano, Eduardo; Lapunzina, Pablo (Nature, 2020)
      Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic ...
    • Proinflammatory environment and role of TNF-α in endometrial function of obese women having polycystic ... 
      Oróstica Arévalo, María Lorena; Astorga Leiva, Isis; Plaza Parrochia, Francisca; Vera Castillo, Carolina; García Angulo, Víctor; Carvajal Gavilán, Rodrigo; Gabler Neale, Fernando; Romero Osses, Carmen; Vega Blanco, María Margarita (Springer Nature, 2016)
      BACKGROUND/OBJECTIVES: A high percentage of women having polycystic ovarian syndrome (PCOS) exhibit hyperinsulinemia and obesity. Transforming necrosis factor-alpha (TNF-alpha) is an adipokine that increases in obesity and ...