Results 21 to 30 of about 7,392 (202)

Cell-type-specific disruption of cortico-striatal circuitry drives repetitive patterns of behavior in fragile X syndrome model mice

Cell Reports, 2023
Summary: Individuals with fragile X syndrome (FXS) are frequently diagnosed with autism spectrum disorder (ASD), including increased risk for restricted and repetitive behaviors (RRBs).
Francesco Longo, Sameer Aryal, Paul G. Anastasiades, Marta Maltese, Corey Baimel, Federica Albanese, Joanna Tabor, Jeffrey D. Zhu, Mauricio M. Oliveira, Denise Gastaldo, Claudia Bagni, Emanuela Santini, Nicolas X. Tritsch, Adam G. Carter, Eric Klann   +14 more
doaj   +1 more source

Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening [PDF]

Health Expectations, 2012
AbstractBackgroundGenetic carrier screening is increasingly possible for many conditions, but it is important to ensure decisions are informed. The multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to evaluate informed choice in prenatal screening for Down syndrome, measuring knowledge, attitudes and uptake.
Alice G, Ames, Alice, Jaques, Obioha C, Ukoumunne, Alison D, Archibald, Rony E, Duncan, Jon, Emery, Sylvia A, Metcalfe   +6 more
openaire   +2 more sources

Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome

Frontiers in Genetics, 2022
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are primary examples of fragile X-related disorders (FXDs) caused by abnormal expansion of CGG repeats above a certain threshold in the 5′-untranslated region of the fragile
Aadil Yousuf, Nadeem Ahmed, Abrar Qurashi   +2 more
doaj   +1 more source

Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome

Frontiers in Genetics, 2019
Fragile X syndrome (FXS) is the most common congenital hereditary disease of low intelligence after Down syndrome. Its main pathogenic gene is fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism, and fragile X ...
Ge Huang, He Zhu, Shuying Wu, Manhua Cui, Tianmin Xu   +4 more
doaj   +1 more source

Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells

Stem Cell Reports, 2015
Summary: Fragile X syndrome (FXS) is caused by the absence of the fragile X mental retardation protein (FMRP). We have previously generated FXS-induced pluripotent stem cells (iPSCs) from patients’ fibroblasts.
Tomer Halevy, Christian Czech, Nissim Benvenisty   +2 more
doaj   +1 more source

Network mechanisms underlying core behavioral features in Fragile X Syndrome (FXS)

, 2023
Fragile X Syndrome (FXS), a rare monogenetic neurodevelopmental disorder caused by a trinucleotide expansion of the FMR1 gene on the X chromosome, is characterized by intellectual disability, sensory hypersensitivities, executive dysfunction, and ...
Lauren Ethridge, Jordan Norris
core   +1 more source

Differentiating social preference and social anxiety phenotypes in fragile X syndrome using an eye gaze analysis: a pilot study

Journal of Neurodevelopmental Disorders, 2019
Background Fragile X syndrome (FXS) is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare individuals with FXS to typically
Michael P. Hong, Eleanor M. Eckert, Ernest V. Pedapati, Rebecca C. Shaffer, Kelli C. Dominick, Logan K. Wink, John A. Sweeney, Craig A. Erickson   +7 more
doaj   +1 more source

Cytoplasmic Polyadenylation Element-Binding Protein 1 Post-transcriptionally Regulates Fragile X Mental Retardation 1 Expression Through 3′ Untranslated Region in Central Nervous System Neurons

Frontiers in Cellular Neuroscience, 2022
Fragile X syndrome (FXS) is an inherited intellectual disability caused by a deficiency in Fragile X mental retardation 1 (Fmr1) gene expression. Recent studies have proposed the importance of cytoplasmic polyadenylation element-binding protein 1 (CPEB1)
Souichi Oe, Shinichi Hayashi, Susumu Tanaka, Taro Koike, Yukie Hirahara, Ryohei Seki-Omura, Rio Kakizaki, Sumika Sakamoto, Yosuke Nakano, Yasuko Noda, Hisao Yamada, Masaaki Kitada   +11 more
doaj   +1 more source

Pharmacogenetic Inhibition of eIF4E-Dependent Mmp9 mRNA Translation Reverses Fragile X Syndrome-like Phenotypes

Cell Reports, 2014
Summary: Fragile X syndrome (FXS) is the leading genetic cause of autism. Mutations in Fmr1 (fragile X mental retardation 1 gene) engender exaggerated translation resulting in dendritic spine dysmorphogenesis, synaptic plasticity alterations, and ...
Christos G. Gkogkas, Arkady Khoutorsky, Ruifeng Cao, Seyed Mehdi Jafarnejad, Masha Prager-Khoutorsky, Nikolaos Giannakas, Archontia Kaminari, Apostolia Fragkouli, Karim Nader, Theodore J. Price, Bruce W. Konicek, Jeremy R. Graff, Athina K. Tzinia, Jean-Claude Lacaille, Nahum Sonenberg   +14 more
doaj   +1 more source

Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence

Journal of Neurodevelopmental Disorders, 2021
Background Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear.
M. Marlborough, A. Welham, C. Jones, S. Reckless, J. Moss   +4 more
doaj   +1 more source