Results 21 to 30 of about 206,873 (358)
Nature Neuroscience, 2021 Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein (FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this study, we developed an FXS human forebrain organoid model and observed that
Yunhee Kang +21 more
semanticscholar +1 more source
Fragile X Syndrome: From Molecular Aspect to Clinical Treatment
International Journal of Molecular Sciences, 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.
D. Protic +7 more
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American Journal of Psychiatry, 2022 OBJECTIVE Previous research has demonstrated that the amygdala is enlarged in children with autism spectrum disorder (ASD). However, the precise onset of this enlargement during infancy, how it relates to later diagnostic behaviors, whether the timing of
M. Shen +27 more
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Hyperexcitability and Homeostasis in Fragile X Syndrome
Frontiers in Molecular Neuroscience, 2022 Fragile X Syndrome (FXS) is a leading inherited cause of autism and intellectual disability, resulting from a mutation in the FMR1 gene and subsequent loss of its protein product FMRP.
Xiaopeng Liu +3 more
semanticscholar +1 more source
Clinical Science, 1992 An amplification of a highly unstable DNA element has been identified at the fragile X locus in Xq27.3. This sequence appears to be both the source of the primary mutation causing the fragile X syndrome, apparently having its causative effect through the methylation of the FMR-1 HTF island and the region of cytogenetic fragility. The direct analysis of
Hirst, M +4 more
+11 more sources
Journal of Medical Genetics, 1998 The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at Xq27.3) became replaced by molecular diagnosis.
Ben A. Oostra +3 more
openaire +3 more sources
European Journal of Human Genetics, 2008 Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5 ...
Kathryn B. Garber +2 more
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Fragile X syndrome in children [PDF]
Colombia Medica, 2023 Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities.
David O. Acero-Garcés +4 more
openaire +3 more sources
Chloride imbalance in Fragile X syndrome
Frontiers in Neuroscience, 2022 Developmental changes in ionic balance are associated with crucial hallmarks in neural circuit formation, including changes in excitation and inhibition, neurogenesis, and synaptogenesis.
Kaleb Dee Miles, Caleb Andrew Doll
doaj +1 more source
Developmental aspects of FXAND in a man with the FMR1 premutation. [PDF]
, 2020 BackgroundFragile X mental retardation 1 (FMR1) premutation can cause developmental problems including autism spectrum disorder (ASD), social anxiety, depression, and attention deficit hyperactivity disorder (ADHD).
Emeka-Nwonovo, Chinelo +6 more
core +1 more source