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Role of Repeat-Associated MicroRNA (ramRNA) in Fragile X Syndrome (FXS)
2008A large portion of the genome is non-coding DNA, which frequently contains redundant microsatellite-like trinucleotide repeats with function not yet to be known. Recent studies have shown that many of these trinucleotide repeats are involved in triplet repeat expansion diseases (TREDs), such as fragile X syndrome (FXS), Huntington’s disease (HD ...
Shao-Yao Ying, Shi-Lung Lin
exaly +2 more sources
Fragile X Syndrome (FXS): An Occupation-Centered Analysis
American Journal of Occupational Therapy, 2019Date Presented 04/04/19 This qualitative research examined the experiences of families living with FXS through an occupation-centered lens. We investigated family occupations via their own voice, through semistructured, recorded interviews. By analyzing occupations, including
Laura Hess +4 more
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Genetic Reduction of Muscarinic M4 Receptor Modulates Analgesic Response and Acoustic Startle Response in a Mouse Model of Fragile X Syndrome (FXS) [PDF]
Behavioural Brain Research, 2012 The G-protein coupled muscarinic acetylcholine receptors, widely expressed in the CNS, have been implicated in fragile X syndrome (FXS). Recent studies have reported an overactive signaling through the muscarinic receptors in the Fmr1KO mouse model. Hence, it was hypothesized that reducing muscarinic signaling might modulate behavioral phenotypes in ...
Surabi Veeraragavan +2 more
exaly +3 more sources
Burden of illness among patients with fragile X syndrome (FXS): a Medicaid perspective
Current Medical Research and Opinion, 2015Fragile X syndrome (FXS) is an inherited intellectual disability that imposes a substantial clinical and humanistic burden on patients and caregivers. This study aimed to quantify the incremental burden of illness following FXS diagnosis in Medicaid populations.A retrospective matched-cohort study was conducted using FL, NJ, MO, IA, and KS Medicaid ...
Tara, Nazareth +9 more
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Autism Spectrum Disorder (ASD) and Fragile X Syndrome (FXS): Two Overlapping Disorders Reviewed Through Electroencephalography—What Can Be Interpreted From the Available Information? [PDF]
Brain Sciences, 2015 Autism Spectrum Disorder (ASD) and Fragile X syndrome (FXS) are neurodevelopmental disorders with different but potentially related neurobiological underpinnings, which exhibit significant overlap in their behavioural symptoms. FXS is a neurogenetic disorder of known cause whereas ASD is a complex genetic disorder, with both rare and common genetic ...
Richard B. Reilly, Louise Gallagher
exaly +4 more sources
Visuo-Spatial Construction Trajectories in Fragile X Syndrome (FXS) and Autism Spectrum Disorders (ASD): Evidence of Cognitive Heterogeneity Within Neurodevelopmental Conditions [PDF]
Research in Developmental Disabilities, 2017 There have been discrepancies reported in visuo-spatial construction ability in children with Autism Spectrum Disorders (ASD), fragile X Syndrome (FXS) and those with a comorbid diagnosis of FXS and ASD (AFXS). This study aimed to provide a better understanding of the visuo-spatial processing styles in these heterogeneous neurodevelopmental disorders ...
Maria Nunez +2 more
exaly +3 more sources
Neuregulin 1-Induced AKT and ERK Phosphorylation in Patients with Fragile X Syndrome (FXS) and Intellectual Disability Associated with Obstetric Complications [PDF]
Journal of Molecular Neuroscience, 2014 Animal models of fragile X syndrome (FXS) suggest the impairment of the intracellular AKT messenger system, which is activated by neuregulin 1 (NRG1), a key regulator of neurodevelopment. We investigated NRG1-induced activation of the AKT and extracellular signal-regulated kinase (ERK) systems by the measurement of the phosphorylated AKT/ERK to total ...
Kovács Tamás +3 more
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American Journal of Occupational Therapy, 2019
Date Presented 04/04/19 Fragile X syndrome (FXS) is the most common inherited form of intellectual and developmental disability and the most common single gene cause of autism spectrum disorder (ASD). FXS has been widely researched, primarily via a medical model. Yet, the FXS
Laura Hess +4 more
openaire +1 more source
Date Presented 04/04/19 Fragile X syndrome (FXS) is the most common inherited form of intellectual and developmental disability and the most common single gene cause of autism spectrum disorder (ASD). FXS has been widely researched, primarily via a medical model. Yet, the FXS
Laura Hess +4 more
openaire +1 more source
The Malaysian journal of pathology, 2018
Fragile X syndrome (FXS) is a neurodevelopmental disorder commonly found worldwide, caused by the silencing of fragile X mental retardation 1 (FMR1) gene on the X-chromosome. Most of the patients lost FMR1 function due to an expansion of cytosine-guanine-guanine (CGG) repeat at the 5' untranslated region (5'UTR) of the gene.
E Z, Ali +6 more
openaire +1 more source
Fragile X syndrome (FXS) is a neurodevelopmental disorder commonly found worldwide, caused by the silencing of fragile X mental retardation 1 (FMR1) gene on the X-chromosome. Most of the patients lost FMR1 function due to an expansion of cytosine-guanine-guanine (CGG) repeat at the 5' untranslated region (5'UTR) of the gene.
E Z, Ali +6 more
openaire +1 more source