Browsing by Subject "Expression"

Now showing items 1-3 of 3

    • FMR1 mRNA from full mutation alleles is associated with ABC-C-FX scores in males with fragile X syndrome 
      Baker, Emma K.; Arpone, Marta; Kraan, Claudine; Bui, Minh; Rogers, Carolyn; Field, Michael; Bretherton, Lesley; Ling, Ling; Ure, Alexandra; Cohen, Jonathan; Hunter, Matthew F.; Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende Rodríguez, Angélica; Amor, David J.; Godler, David E. (Nature, 2020)
      Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with >= 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated ...
    • Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis 
      Aliaga, Solange M.; Slater, Howard R.; Francis, David; Du Sart, Desiree; Li, Xin; Amor, David J.; Alliende, Angelica M.; Santa María Vásquez, Lorena; Faúndes Gómez, Víctor; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Curotto, Bianca; Godler, David E. (Amer. Assoc. Clinical Chemistry, 2016)
      BACKGROUND: FMR1 full mutations (FMs) (CGG expansion >200) in males mosaic for a normal (<45 CGG) or gray-zone (GZ) (45-54 CGG) allele can be missed with the standard 2-step fragile X syndrome (FXS) testing protocols, ...
    • RNAseq reveals different transcriptomic responses to GA3 in early and midseason varieties before ripening ... 
      Kuhn, Nathalie; Maldonado, Jonathan; Ponce Ibáñez, Claudio Miguel; Arellano Sepúlveda, Macarena Patricia; Time, Alson; Multari, Salvatore; Martens, Stefan; Carrera, Esther; Donoso, José Manuel; Sagredo, Boris; Meisel, Lee Ann (Nature, 2021)
      Gibberellin (GA) negatively affects color evolution and other ripening-related processes in non-climacteric fruits. The bioactive GA, gibberellic acid (GA(3)), is commonly applied at the light green-to-straw yellow transition ...