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Experimental Cell Research, 2021
Fragile X syndrome (FXS) is the most common inheritable form of intellectual disability. FMR1, the gene responsible for FXS, is located on human chromosome Xq27.3 and contains a stretch of CGG trinucleotide repeats in its 5' untranslated region.
Kaori Adachi +2 more
exaly +3 more sources
Fragile X syndrome (FXS) is the most common inheritable form of intellectual disability. FMR1, the gene responsible for FXS, is located on human chromosome Xq27.3 and contains a stretch of CGG trinucleotide repeats in its 5' untranslated region.
Kaori Adachi +2 more
exaly +3 more sources
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 ...
Shi-Lung Lin +2 more
exaly +2 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 ...
Oguz Kelemen, Szabolcs Keri
exaly +4 more sources
Fragile X Syndrome (FXS): An Occupation-Centered Analysis
The American Journal of Occupational Therapy, 2019Abstract Date 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.
Laura Hess +4 more
openaire +1 more source
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
openaire +2 more sources
The American Journal of Occupational Therapy, 2019
Abstract 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.
Laura Hess +4 more
openaire +1 more source
Abstract 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.
Laura Hess +4 more
openaire +1 more source
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 memory performance of young boys with FXS across different degrees of complexity.
Bailey, D. +6 more
openaire +1 more source
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 memory performance of young boys with FXS across different degrees of complexity.
Bailey, D. +6 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