Results 31 to 40 of about 7,392 (202)

Fragile X syndrome. [PDF]

, 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
González-Teshima, Laura Yuriko, Hagerman, Randi, Saldarriaga, Wilmar, Ayala-Zapata, Sebastián, Tassone, Flora, Forero-Forero, Jose Vicente   +5 more
core   +1 more source

Wnd/DLK Is a Critical Target of FMRP Responsible for Neurodevelopmental and Behavior Defects in the Drosophila Model of Fragile X Syndrome

Cell Reports, 2019
Summary: Fragile X syndrome (FXS) is the leading heritable cause of intellectual disability and commonly co-occurs with autism spectrum disorder. Silencing of the Fmr1 gene leads to the absence of the protein product, fragile X mental retardation protein
Alexandra Russo, Aaron DiAntonio
doaj   +1 more source

Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study [PDF]

BMC Psychiatry, 2016
Background As data on the phenotype, characteristics and management of patients with Fragile X Syndrome (FXS) are limited, we aimed to collect such data in Germany in experienced centres involved in the treatment of such patients. Methods EXPLAIN-FXS is a prospective observational (non- interventional) study (registry) performed between April 2013 and ...
Haessler, F., Gaese, F., Huss, M., Kretschmar, C., Brinkman, M., Peters, H., Elstner, S., Colla, M., Pittrow, D.   +8 more
openaire   +3 more sources

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome [PDF]

Scientific Reports, 2020
AbstractFragile 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 with more severe autism features in FXS males.
Baker, EK, Arpone, M, Kraan, C, Minh, B, Rogers, C, Field, M, Bretherton, L, Ling, L, Ure, A, Cohen, J, Hunter, MF, Santa Maria, L, Faundes, V, Curotto, B, Morales, P, Trigo, C, Salas, I, Alliende, A, Amor, DJ, Godler, DE   +19 more
openaire   +3 more sources

Focal areas of a high rate of fragile X in Indonesia: a long term follow up

Journal of Biomedicine and Translational Research, 2019
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID) and a leading cause of autism spectrum disorder (ASD). FXS is caused by an expansion of CGG repeats >200 in the 5′ untranslated region of the promotor region ...
Sultana MH Faradz, Tri Indah Winarni
doaj   +1 more source

Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots

Scientific Reports, 2022
Fragile X Syndrome (FXS) is caused by a trinucleotide expansion leading to silencing of the FMR1 gene and lack of expression of Fragile X Protein (FXP, formerly known as Fragile X Mental Retardation Protein, FMRP).
Anna E. Boggs, Lauren M. Schmitt, Richard D. McLane, Tatyana Adayev, Giuseppe LaFauci, Paul S. Horn, Kelli C. Dominick, Christina Gross, Craig A. Erickson   +8 more
doaj   +1 more source

Fragile X Syndrome: From Molecular Aspect to Clinical Treatment [PDF]

, 2022
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the full mutation as well as highly localized methylation of the fragile X mental retardation 1 (FMR1) gene on the long arm of the X chromosome.
Randi J. Hagerman, Aishworiya, Ramkumar, Ramkumar Aishworiya, Jelena Milisavljevic, Hagerman, Randi J, Tang, Si Jie, Filip Mitrovic, Milisavljevic, Jelena, Mitrovic, Filip, Budimirovic, Dejan B, Si Jie Tang, Protic, Dragana D, Dejan B. Budimirovic, Dragana D. Protic, Maria Jimena Salcedo-Arellano, Salcedo-Arellano, Maria Jimena   +15 more
core   +1 more source

CRISPR to the Rescue: Advances in Gene Editing for the FMR1 Gene

Brain Sciences, 2019
Gene-editing using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) is promising as a potential therapeutic strategy for many genetic disorders.
Carolyn M. Yrigollen, Beverly L. Davidson   +1 more
doaj   +1 more source

Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals

Cells, 2023
Fragile X syndrome (FXS) is the most common form of monogenic intellectual disability and autism, caused by the absence of the functional fragile X messenger ribonucleoprotein 1 (FMRP).
Giulia Cencelli, Laura Pacini, Anastasia De Luca, Ilenia Messia, Antonietta Gentile, Yunhee Kang, Veronica Nobile, Elisabetta Tabolacci, Peng Jin, Maria Giulia Farace, Claudia Bagni   +10 more
doaj   +1 more source

Event-related potential alterations in fragile X syndrome

Frontiers in Human Neuroscience, 2012
Fragile X Syndrome (FXS) is the most common form of X-linked intellectual disability, associated with a wide range of cognitive and behavioural impairments.
Inga Sophia eKnoth, Inga Sophia eKnoth, Sarah eLippe, Sarah eLippe   +3 more
doaj   +1 more source