Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23150
Abstract: The FMR1 gene contains an unstable CGG repeat in its 5′ untranslated region. Premutation alleles range between 55 and 200 repeat units and confer a risk for developing fragile X‐associated tremor/ataxia syndrome or fragile X‐associated… read more here.
Keywords: premutation; molecule sequencing; single molecule; agg interruptions ... See more keywords
Study of telomere length in men who carry a fragile X premutation or full mutation allele
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02194-8
Abstract: The fragile X premutation is defined by the expansion of the CGG trinucleotide repeat at the 5′ UTR of the FMR1 gene to between 55 and 200 repeats, while repeat tracks longer than 200 are… read more here.
Keywords: premutation; premutation full; fragile premutation; telomere length ... See more keywords
Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Brain Imaging and Behavior"
DOI: 10.1007/s11682-018-9928-7
Abstract: Fragile X-associated tremor ataxia syndrome is an inherited neurodegenerative disorder caused by premutation expansions (55–200 CGG repeats) of the FMR1 gene. There is accumulating evidence to suggest that early cognitive and brain imaging signs may… read more here.
Keywords: premutation; fragile associated; tremor ataxia; volume ... See more keywords
Word retrieval difficulty in adult females with the FMR1 premutation: Changes over time and across contexts
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Cognition"
DOI: 10.1016/j.bandc.2021.105694
Abstract: Individuals with a premutation of the fragile X mental retardation (FMR1) gene are at risk for a variety of psychological, physical, and cognitive issues, including difficulty with word retrieval. The present study examined three indicators of word… read more here.
Keywords: word; premutation; retrieval difficulty; word retrieval ... See more keywords
Clinical and molecular correlates in fragile X premutation females
Sign Up to like & getrecommendations! Published in 2017 at "eNeurologicalSci"
DOI: 10.1016/j.ensci.2017.04.003
Abstract: The prevalence of the fragile X premutation (55–200 CGG repeats) among the general population is relatively high, but there remains a lack of clear understanding of the links between molecular biomarkers and clinical outcomes. In… read more here.
Keywords: clinical molecular; premutation; molecular correlates; clinical phenotypes ... See more keywords
Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-93489-x
Abstract: FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH), to gain insights into the mechanisms underlying… read more here.
Keywords: premutation; hormone; fmr1 premutation; premutation carriers ... See more keywords
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2300052120
Abstract: Short trinucleotide expansions at the FMR1 locus are associated with the late-onset condition fragile X-associated tremor/ataxia syndrome (FXTAS), which shows very different clinical and pathological features from fragile X syndrome (associated with longer expansions), with… read more here.
Keywords: premutation; ataxia syndrome; tremor ataxia; fragile associated ... See more keywords
Social anxiety and autism spectrum traits among adult FMR1 premutation carriers
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12791
Abstract: Behavioral symptoms and traits have been proposed as early markers in neurodegenerative diseases. The aim of this study was to evaluate social anxiety and autism in FMR1 premutation carriers using the Social Phobia Inventory (SPIN)… read more here.
Keywords: premutation; fmr1 premutation; premutation carriers; anxiety autism ... See more keywords
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2022-108568
Abstract: FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional… read more here.
Keywords: trial readiness; premutation; international fragile; fragile premutation ... See more keywords
Complexity based measures of postural stability provide novel evidence of functional decline in fragile X premutation carriers
Sign Up to like & getrecommendations! Published in 2019 at "Journal of NeuroEngineering and Rehabilitation"
DOI: 10.1186/s12984-019-0560-6
Abstract: BackgroundFragile X Associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative movement disorder characterized by tremor, ataxic gait, and balance issues resulting from a premutation of the Fragile X Mental Retardation 1 (FMR1) gene. No biomarkers have… read more here.
Keywords: premutation; complexity; premutation carriers; group ... See more keywords
Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "American journal on intellectual and developmental disabilities"
DOI: 10.1352/1944-7558-128.3.254
Abstract: Sleep plays an integral role in supporting well-being, and sleep difficulties are common in mothers of individuals with developmental disabilities, including fragile X syndrome (FXS). This study assessed whether the effects of sleep quality on… read more here.
Keywords: health; mothers individuals; premutation; sleep quality ... See more keywords