Results 11 to 20 of about 5,538,805 (353)
Developmental studies in fragile X syndrome
Journal of Neurodevelopmental Disorders, 2020 Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral ...
Khaleel A. Razak +2 more
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Epigenetics of fragile X syndrome and fragile X‐related disorders [PDF]
Developmental Medicine & Child Neurology, 2018 The fragile X mental retardation 1 gene (FMR1)‐related disorder fragile X syndrome (FXS) is the most common heritable form of cognitive impairment and the second most common cause of comorbid autism.FXSusually results when a premutation trinucleotideCGGrepeat in the 5′ untranslated region of theFMR1gene (CGG55–200) expands over generations to a full ...
David E. Godler +5 more
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Modeling Fragile X Syndrome in Drosophila
Frontiers in Molecular Neuroscience, 2018 Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd +5 more
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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
Brain Sciences, 2022 This Brain Sciences 2020 Special Issue of nine manuscripts contribute novel data on treatment updates in fragile X syndrome (FXS) [...]
Dejan B. Budimirovic, Dragana D. Protic
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Dynamical Fragile Topology in Floquet Crystals [PDF]
Phys. Rev. B 104, L180303 (2021), 2021 Although fragile topology has been intensely studied in static crystals in terms of Wannier obstruction, it is not clear how to generalize the concept to dynamical systems. In this work, we generalize the concept of fragile topology, and provide a definition of fragile topology for noninteracting Floquet crystals, which we refer to as dynamical fragile
arxiv +1 more source
Compositional Trends in Surface Enhanced Diffusion in Lead Silicate Glasses [PDF]
Computational Materials Science 206 (2022) 111304, 2022 In this work, we use molecular dynamics simulations to study the enhancement of surface over bulk diffusion (surface enhanced diffusion) in (PbO)x(SiO2)1-x glasses. This work is motivated to better understand surface diffusion in glasses and its connection to fragility, and to enhance surface diffusion in silica and related glasses for greater ...
arxiv +1 more source
Journal of Neurodevelopmental Disorders, 2014 Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing recognition as the basis for a spectrum of clinical involvement, from neurodevelopmental problems; to mid-adult ...
Tassone, Flora +2 more
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Seismic fragility analysis using stochastic polynomial chaos expansions [PDF]
Probabilistic Engineering Mechanics, 2023,103413, 2022 Within the performance-based earthquake engineering (PBEE) framework, the fragility model plays a pivotal role. Such a model represents the probability that the engineering demand parameter (EDP) exceeds a certain safety threshold given a set of selected intensity measures (IMs) that characterize the earthquake load.
arxiv +1 more source
FMR1 gene mutations cause neurodevelopmental-degenerative disorders: Importance of fragile X testing in Serbia [PDF]
Vojnosanitetski Pregled, 2016 nema
Budimirovic Dejan B., Protic Dragana
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