Results 11 to 20 of about 7,392 (202)

The Contribution of Pluripotent Stem Cell (PSC)-Based Models to the Study of Fragile X Syndrome (FXS). [PDF]

Brain Sci, 2019
Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a deficiency in the fragile X mental retardation protein (FMRP) due to a CGG repeat expansion in the 5′-UTR of the X-linked FMR1 gene. When CGGs expand beyond 200 copies, they lead to epigenetic gene silencing of the gene.
Abu Diab M, Eiges R.
europepmc   +5 more sources

Working memory subsystems and task complexity in young boys with Fragile X syndrome: Working memory in boys with FXS

, 2011
Working memory problems have been targeted as core deficits in individuals with Fragile X syndrome (FXS); however, there have been few studies that have examined working memory in young boys with FXS, and even fewer studies that have studied the working ...
Hooper, S., Schaaf, J., Ornstein, P., Bailey, D., Hatton, D., Baker, S., Skinner, M.   +6 more
core   +2 more sources

A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX) [PDF]

Journal of Neurodevelopmental Disorders, 2022
Abstract Background Fragile X syndrome (FXS) is associated with dysregulated endocannabinoid signaling and may therefore respond to cannabidiol therapy. Design CONNECT-FX was a double-blind, randomized phase 3 trial assessing efficacy and safety of ZYN002, transdermal ...
Berry-Kravis, Elizabeth, Hagerman, Randi, Budimirovic, Dejan, Erickson, Craig, Heussler, Helen, Tartaglia, Nicole, Cohen, Jonathan, Tassone, Flora, Dobbins, Thomas, Merikle, Elizabeth, Sebree, Terri, Tich, Nancy, Palumbo, Joseph M, O'Quinn, Stephen   +13 more
openaire   +8 more sources

Cerebral Cortex Morphometry and Relaxometry in Male Children With Fragile X Syndrome and Autism. [PDF]

Brain Behav
In this study, regions of the cortex highlighted in shades of blue indicate children with fragile X syndrome have increased cortical thickness compared to children with autism spectrum disorder. ABSTRACT Purpose An estimated 30%–50% of male individuals with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), indicating phenotypic
Guerrero-Gonzalez JM, Lowe AK, Kecskemeti SR, Travers BG, Alexander AL, Sterling AM.   +5 more
europepmc   +2 more sources

Age-Related Decline in Dendritic Architecture of Hippocampal CA1 Principal Neurons in a Mouse Model of Fragile X Syndrome. [PDF]

Dev Neurobiol
ABSTRACT Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is associated with attention deficits, hyperactivity, anxiety, impulsivity, and repetitive behaviors. The disorder results from transcriptional silencing of the FMR1 gene, leading to loss of fragile X messenger ribonucleoprotein (FMRP), an RNA‐binding ...
Farooqi NNU, Nyengaard JR, Banke TG.
europepmc   +2 more sources

Serum Metabolic and Gut Microbiome Differences in Age-Associated Fragile X Syndrome (FXS) Pediatric Patients May Benefit Clinical Therapy Development. [PDF]

Int J Gen Med
Fragile X syndrome (FXS) is a rare, genetically based neurodevelopmental disorder characterized by intellectual disability. While previous research has largely focused on its genetic mechanisms, the role of metabolism and the gut microbiome in FXS remains underexplored.
Han X, Zhu J, Zhao W, Han Y.
europepmc   +4 more sources

Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) [PDF]

Journal of Neurodevelopmental Disorders, 2012
AbstractBackgroundAttention and inhibition are core executive-function deficits in FRagile X syndrome (FXS). This pilot study evaluated the feasibility, reproducibility, and clinical relevance of the KiTAP, a computer-based pictorial measure of attention and inhibition with an enchanted-castle theme, in an FXS cohort.MethodsThe 8-subtest KiTAP battery (
Knox, Andrew, Schneider, Andrea, Abucayan, Floridette, Hervey, Crystal, Tran, Christina, Hessl, David, Berry-Kravis, Elizabeth   +6 more
openaire   +5 more sources

Homeostatic Intrinsic Plasticity Is Functionally Altered in Fmr1 KO Cortical Neurons

Cell Reports, 2019
Summary: Cortical hyperexcitability is a hallmark of fragile X syndrome (FXS). In the Fmr1 knockout (KO) mouse model of FXS, cortical hyperexcitability is linked to sensory hypersensitivity and seizure susceptibility.
Pernille Bülow, T.J. Murphy, Gary J. Bassell, Peter Wenner   +3 more
doaj   +1 more source

Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report [PDF]

Reviews in Clinical Medicine, 2016
Fragile X syndrome (FXS) is the most common known genetic cause of male intellectual disability. A wide variety of medical problems has been reported in FXS syndrome including seizures, facial abnormalities, macroorchidism, and autistic disorders.
Raheleh Mirsadraee, Saba Vakili, Mohammad Reza Abbaszadegan, Rahim Vakili   +3 more
doaj   +1 more source

An “Omic” Overview of Fragile X Syndrome

Biology, 2021
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its ...
Olivier Dionne, François Corbin
doaj   +1 more source