Browsing by Author "73e28d04-5748-4559-b7b0-b2d5aba84830"

Now showing items 1-6 of 6

    • 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 ...
    • Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features 
      Baker, Emma K.; Arpone, Marta; Aliaga, Solange M.; Bretherton, Lesley; Kraan, Claudine M.; Bui, Minh; Slater, Howard R.; Ling, Ling; Francis, David; Hunter, Matthew F.; Elliott, Justine; Rogers, Carolyn; Field, Michael; Cohen, Jonathan; Cornish, Kim; Santa María Vásquez, Lorena; Faundes, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende, Angélica M.; Amor, David J.; Godle, David E. (BioMed Central, 2019)
      Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, ...
    • Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort ... 
      Arpone, Marta; Baker, Emma K.; Bretherton, Lesley; Bui, Minh; Li, Xin; Whitaker, Simon; Dissanayake, Cheryl; Cohen, Jonathan; Hickerton, Chriselle; Rogers, Carolyn; Field, Mike; Elliott, Justine; Aliaga, Solange M.; Ling, Ling; Francis, David; Hearps, Stephen J. C.; Hunter, Matthew F.; Amor, David J.; Godler, David E. (Nature Publishing Group, 2018)
      Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these ...
    • Molecular inconsistencies in a fragile X male with early onset ataxia 
      Hwang, Yun Tae; Dudding, Tracy; Aliaga, Solange Mabel; Arpone, Marta; Francis, David; Li, Xin; Slater, Howard Robert; Rogers, Carolyn; Bretherton, Lesley; du Sart, Desirée; Heard, Robert; Godler, David Eugeny (MDPI AG, 2016)
      © 2016 by the authors; licensee MDPI, Basel, Switzerland. Mosaicism for FMR1 premutation (PM: 55–199 CGG)/full mutation (FM: >200 CGG) alleles or the presence of unmethylated FM (UFM) have been associated with a less ...
    • Novel molecular and clinical aspects of FMR1 in fragile x syndrome highlighting significance of mosaicism 
      Aliaga, S.; Baker, Emma K.; Kraan, C.; Arpone, Marta; Bui, Q.; Li, X.; Ling, Ling; Francis, D.; Hunter, Matthew; Elliot, J.; Rogers, Carolyn; Field, M.; Slater, Howard R.; Bretherton, Lesley; María, L.; Faundes, Víctor; Curotto, B.; Morales, P.; Trigo, C.; Salas, I.; Alliende, Angelica M.; Amor, David J.; Godler, David E. (Wiley, 2018-08)
    • Partially Methylated Alleles, Microdeletion, and Tissue Mosaicism in a Fragile X Male with Tremor and Ataxia ... 
      Hwang, Yun Tae; Aliaga Vera, Solange; Arpone, Marta; Francis, David; Li, Xin; Chong, Belinda; Slater, Howard; Rogers, Carolyn; Bretherton, Lesley; Hunter, Matthew; Heard, Robert; Godler, David (Wiley, 2016)
      CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability ...