Results 91 to 100 of about 7,199,374 (204)
ESCRT-III Membrane Trafficking Misregulation Contributes To Fragile X Syndrome Synaptic Defects
Scientific Reports, 2017 The leading cause of heritable intellectual disability (ID) and autism spectrum disorders (ASD), Fragile X syndrome (FXS), is caused by loss of the mRNA-binding translational suppressor Fragile X Mental Retardation Protein (FMRP).
Dominic J. Vita, Kendal Broadie
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Facts About Fragile X Syndrome [PDF]
Fragile X syndrome (FXS) is the most common known cause of intellectual disability that can be inherited, which means in can be passed from parent to child. FXS affects both males and females. However, females often have milder symptoms than males.
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Translational modulator ISRIB alleviates synaptic and behavioral phenotypes in Fragile X syndrome
iScienceSummary: Fragile X syndrome (FXS) is caused by the loss of fragile X messenger ribonucleoprotein (FMRP), a translational regulator that binds the transcripts of proteins involved in synaptic function and plasticity.
Rochelle L. Coulson +7 more
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Lessons from clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1498-1499, November 2026.
Fuki Marie Hisama
wiley +1 more source
Language Development and Fragile X Syndrome
, 2011 Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability, with a behavioral profile of relative cognitive strengths and weaknesses, as well as a heightened probability of various forms of psychopathology.
Audra Sterling, Leonard Abbeduto
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, 2011 Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%).
Hagerman, Randi +3 more
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Dysregulated Dscam levels act through Abelson tyrosine kinase to enlarge presynaptic arbors
eLife, 2015 Increased expression of Down Syndrome Cell Adhesion Molecule (Dscam) is implicated in the pathogenesis of brain disorders such as Down syndrome (DS) and fragile X syndrome (FXS). Here, we show that the cellular defects caused by dysregulated Dscam levels
Gabriella R Sterne +2 more
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Alcohol use dependence in fragile X syndrome [PDF]
, 2016 Alcohol use disorders (AUDs) have been reported in a limited number of individuals with cognitive impairment but rarely in those with fragile X syndrome (FXS). However, in Colombia, culturally, alcohol consumption is very common.
Lozano, Reymundo +4 more
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Towards Mechanism-Based Treatments for Fragile X Syndrome
, 2019 Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000–8000 people worldwide [...
Inbal Gazy, Daman Kumari
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Review of targeted treatments in fragile X syndrome [PDF]
, 2016 Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the leading single-gene cause of autism spectrum disorders.
Ligsay, Andrew, Hagerman, Randi J
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