Browsing by Subject "Gene"

Now showing items 1-8 of 8

    • Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific ... 
      Villanueva Bianchini, Pía; Nudel, Ron; Hoischen, Alexander; Fernández, María Angélica; Simpson, Nuala H.; Gilissen, Christian; Reader, Rose H.; Jara Sosa, Lilian; Echeverry, María Magdalena; Francks, Clyde; Baird, Gillian; Conti-Ramsden, Gina; O’Hare, Anne; Bolton, Patrick F.; Hennessy, Elizabeth R.; Palomino, Hernán; Carvajal Carmona, Luis; Veltman, Joris A.; Cazier, Jean-Baptiste; Barbieri Ortiz, Zulema de,; Fisher, Simon E.; Newbury, Dianne F. (Public Library Science, 2015)
      Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic ...
    • 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 ...
    • Folic Acid Supplementation during Pregnancy Induces Sex-Specific Changes in Methylation and Expression of ... 
      Peñailillo, Reyna; Guajardo, Angélica; Llanos Silva, Miguel; Hirsch Birn, Sandra; Ronco Macchiavello, Ana María (Public Library Science, 2015)
      In the placenta, 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) limits fetal glucocorticoid exposure and its inhibition has been associated to low birth weight. Its expression, encoded by the HSD11B2 gene is ...
    • Impaired Nitric Oxide Mediated Vasodilation In The Peripheral Circulation In The R6/2 Mouse Model Of ... 
      Kane, Andrew D.; Niu, Youguo; Herrera Videla, Emilio; Morton, A. Jennifer; Giussani, Dino A. (Nature, 2016)
      Recent evidence shows that the Huntington's disease (HD) extends beyond the nervous system to other sites, including the cardiovascular system. Further, the cardiovascular pathology pre-dates neurological decline, however ...
    • Multiple paragangliomas associated to a SDHB gene mutation. report of one case Paragangliomas múltiples ... 
      Díaz, René E.; Utreras, Carlos; Ascuí, Rodrigo; Hidalgo, Fernando; Véliz, Jesús; Wohllk, Nelson (2011)
      Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations ...
    • 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 ...
    • Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 
      Vetro, Annalisa; Dehghani, Mohammad Reza; Kraoua, Lilia; Giorda, Roberto; Beri, Silvana; Cardarelli, Laura; Merico, Maurizio; Manolakos, Emmanouil; Parada Bustamante, Alexis; Castro, Andrea; Radi, Orietta; Camerino, Giovanna; Brusco, Alfredo; Sabaghian, Marjan; Sofocleous, Crystalena; Forzano, Francesca; Palumbo, Pietro; Palumbo, Orazio; Calvano, Savino; Zelante, Leopoldo; Grammatico, Paola; Giglio, Sabrina; Basly, Mohamed; Chaabouni, Myriam; Carella, Massimo; Russo, Gianni; Bonaglia, Maria Clara; Zuffardi, Orsetta (Nature Publishing, 2015)
      Duplications in the similar to 2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46, XX disorders of sex development (DSD) without any effects on the XY background. A balanced translocation with its ...
    • The dorsoventral patterning of musca domestica embryos: insights into BMP/ Dpp evolution from the base of ... 
      Hödar Quiroga, Christian; Cambiazo Ayala, Verónica (BMC, 2018-05-16)
      Background: In the last few years, accumulated information has indicated that the evolution of an extra-embryonic membrane in dipterans was accompanied by changes in the gene regulatory network controlled by the BMP/Dpp ...