Results 21 to 30 of about 19,944 (229)
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. [PDF]
PLoS ONE, 2010 BackgroundFragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus.
Stephen C Collins +9 more
doaj +2 more sources
Contribution of astrocytic calcium signaling to auditory hypersensitivity in a mouse model of fragile X syndrome [PDF]
Neurobiology of DiseaseHypersensitivity to sensory stimuli is a common co-morbidity of Fragile X syndrome (FXS), the leading monogenic form of intellectual disability and autism spectrum disorder (ASD). Neuronal impairments associated with auditory and tactile hypersensitivity
Lara Bergdolt +12 more
doaj +2 more sources
FMR1 Disorders: Basics of Biology and Therapeutics in Development
CellsFragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed
Drew A. Gillett +3 more
doaj +2 more sources
Development and validation of a single‐tube multiplex PCR for rapid screening of Fragile X and Fragile XE syndromes of FMR1 and FMR2 genes [PDF]
Songklanakarin Journal of Science and Technology (SJST), 2021 Fragile X (FRAXA) syndrome and fragile XE (FRAXE) syndrome are caused by the expansion of a trinucleotide repeat in the FMR1 and FMR2 genes, respectively.
Areerat Hnoonual +3 more
doaj +1 more source
Neurobiology of Disease, 2021 Fragile X syndrome (FXS) is the most common form of intellectual disability that arises from the dysfunction of a single gene—Fmr1. The main neuroanatomical correlate of FXS is elevated dendritic spine density on cortical pyramidal neurons, which has ...
Katherine M. Bland +6 more
doaj +1 more source
Current Research in Toxicology, 2020 Polychlorinated biphenyls (PCBs) are pervasive environmental contaminants implicated as risk factors for neurodevelopmental disorders (NDDs). Immune dysregulation is another NDD risk factor, and developmental PCB exposures are associated with early life ...
Lauren Matelski +5 more
doaj +1 more source
miRNA expression and interaction with the 3′UTR of FMR1 in FRAXopathy pathogenesis
Non-coding RNA Research, 2021 FRAXopathies are caused by the expansion of the CGG repeat in the 5′UTR of the FMR1 gene, which encodes the protein responsible for the synthesis of FMRP.
Alexander A. Dolskiy +7 more
doaj +1 more source
Aging in Individuals With the FMR1 Mutation [PDF]
American Journal on Mental Retardation, 2004 Individuals with fragile X mental retardation 1 (FMR1) premutation (55 to 200 CGG repeats) are typically unaffected by fragile X syndrome. However, a subgroup of older males with the premutation have developed a neurological syndrome, which usually begins between 50 and 70 years and is associated with a progressive intention tremor and/or ataxia ...
S, Jacquemont +12 more
openaire +2 more sources
FMR1: A gene with three faces [PDF]
Biochimica et Biophysica Acta (BBA) - General Subjects, 2009 The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expansion of a CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein.
Oostra, Ben, Willemsen, Rob
openaire +3 more sources
Journal of Neuroinflammation, 2021 Predisposition to autoimmunity and inflammatory disorders is observed in patients with fragile X-associated syndromes. These patients have increased numbers of CGG triplets in the 5’ UTR region of FMR1 (Fragile X Mental Retardation 1) gene, that affects ...
Scott Thomas +8 more
doaj +1 more source