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Fragile X Syndrome

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https://www.readbyqxmd.com/read/29435927/gene-silencing-in-vitro-and-in-vivo-using-intronic-micrornas
#1
Shi-Lung Lin, Shao-Yao Ying
MicroRNAs (miRNAs), small single-stranded regulatory RNAs capable of interfering with intracellular messenger RNAs (mRNAs) that contain either complete or partial complementarity, are useful for the design of new therapies against cancer polymorphism and viral mutation. Numerous miRNAs have been reported to induce RNA interference (RNAi), a post-transcriptional gene-silencing mechanism. Recent evidence also indicates that they are involved in the transcriptional regulation of genome activities. They were first discovered in Caenorhabditis elegans as native RNA fragments that modulate a wide range of genetic regulatory pathways during embryonic development, and are now recognized as small gene silencers transcribed from the noncoding regions of a genome...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29428901/fragile-x-mental-retardation-protein-participates-in-non-coding-rna-pathways
#2
En-Hui Li, Xin Zhao, Ce Zhang, Wei Liu
Fragile X syndrome is one of the most common forms of inherited intellectual disability. It is caused by mutations of the Fragile X mental retardation 1(FMR1) gene, resulting in either the loss or abnormal expression of the Fragile X mental retardation protein (FMRP). Recent research showed that FMRP participates in non-coding RNA pathways and plays various important roles in physiology, thereby extending our knowledge of the pathogenesis of the Fragile X syndrome. Initial studies showed that the Drosophila FMRP participates in siRNA and miRNA pathways by interacting with Dicer, Ago1 and Ago2, involved in neural activity and the fate determination of the germline stem cells...
February 20, 2018: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/29417435/evaluating-sensory-processing-in-fragile-x-syndrome-psychometric-analysis-of-the-brain-body-center-sensory-scales-bbcss
#3
Jacek Kolacz, Melissa Raspa, Keri J Heilman, Stephen W Porges
Individuals with fragile X syndrome (FXS), especially those co-diagnosed with autism spectrum disorder (ASD), face many sensory processing challenges. However, sensory processing measures informed by neurophysiology are lacking. This paper describes the development and psychometric properties of a parent/caregiver report, the Brain-Body Center Sensory Scales (BBCSS), based on Polyvagal Theory. Parents/guardians reported on 333 individuals with FXS, 41% with ASD features. Factor structure using a split-sample exploratory-confirmatory design conformed to neurophysiological predictions...
February 7, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29399949/adaptive-behavior-in-infants-and-toddlers-with-down-syndrome-and-fragile-x-syndrome
#4
Elizabeth A Will, Kelly E Caravella, Laura J Hahn, Deborah J Fidler, Jane E Roberts
Individuals with Down syndrome (DS) experience deficits across all domains of adaptive functioning, however little is known about the emergence and age-related changes of these impairments compared to other neurogenetic disorders with similar intellectual disability impairments, such as fragile X syndrome (FXS). Adaptive behavior is key for optimal functioning in these populations. Participants aged 5-45 months comprised three age-matched groups, DS (n = 64), FXS (n = 69), and typically developing controls (TD; n = 69)...
February 5, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29398931/syndromic-autism-spectrum-disorders-moving-from-a-clinically-defined-to-a-molecularly-defined-approach
#5
Bridget A Fernandez, Stephen W Scherer
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. This high level of genetic heterogeneity leads to challenges obtaining and interpreting genetic testing in clinical settings...
December 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/29398703/tandem-repeats-mediating-genetic-plasticity-in-health-and-disease
#6
REVIEW
Anthony J Hannan
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that distinguish them from other genetic variants, including the fact that they are more liable to mutation; this enables them to mediate genetic plasticity. The expansion of tandem repeats, particularly of short tandem repeats, can cause a range of disorders (including Huntington disease, various ataxias, motor neuron disease, frontotemporal dementia, fragile X syndrome and other neurological disorders), and emerging data suggest that tandem repeat polymorphisms (TRPs) can also regulate gene expression in healthy individuals...
February 5, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29394101/risperidone-treatment-for-irritability-in-fragile-x-syndrome
#7
Kelli C Dominick, Logan K Wink, Ernest V Pedapati, Rebecca Shaffer, John A Sweeney, Craig A Erickson
OBJECTIVE: The goal of this study was to assess the effectiveness of risperidone monoantipsychotic therapy targeting irritability in patients with Fragile X syndrome (FXS) in a naturalistic outpatient clinical setting. METHODS: We examined the use of risperidone, predominantly in combination with other nonantipsychotic psychotropic agents, targeting irritability in 21 male patients with FXS with a retrospective analysis of a prospectively collected large developmental disabilities-specific treatment database...
February 2, 2018: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/29389022/age-and-cgg-repeat-related-slowing-of-manual-movement-in-fragile-x-carriers-a-prodrome-of-fragile-x-associated-tremor-ataxia-syndrome
#8
Ryan Shickman, Jessica Famula, Flora Tassone, Maureen Leehey, Emilio Ferrer, Susan M Rivera, David Hessl
BACKGROUND: Fragile X premutation carriers are at increased risk for fragile X-associated tremor ataxia syndrome (FXTAS), but to date we know little about prediction of onset and rate of progression and even less about treatment of this neurodegenerative disease. Thus, the longitudinal study of carriers, and the identification of potential biomarkers and prodromal states, is essential. Here we present results of baseline assessments from an ongoing longitudinal project. METHODS: The cohort consisted of 73 men, 48 with the fragile X mental retardation 1 (FMR1) premutation (55-200 cytosine-cytosine-guanine or CGG repeats) and 25 well-matched controls (< 40 repeats) aged between 40 and 75 years...
February 1, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29388943/corrigendum-reproductive-genetic-carrier-screening-for-cystic-fibrosis-fragile-x-syndrome-and-spinal-muscular-atrophy-in-australia-outcomes-of-12-000-tests
#9
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B Delatycki, Eppie Mildred Yiu, R John Massie, Mark Domenic Pertile, Desirée du Sart, Damien Bruno, David J Amor
This corrects the article DOI: 10.1038/gim.2017.134.
February 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29380377/imbalance-of-synaptic-actin-dynamics-as-a-key-to-the-fragile-x-syndrome
#10
Kristin Michaelsen-Preusse, Jonas Feuge, Martin Korte
Our experiences and memories define who we are and evidence accumulates that memory formation is dependent on functional and structural adaptations of synaptic structures in our brain. Especially dendritic spines, the postsynaptic compartments of synapses, show a strong structure-to-function relationship and a high degree of structural plasticity. Although the molecular mechanisms are not completely understood, it is known that these modifications are highly dependent on the actin-cytoskeleton, the major cytoskeletal component of the spine...
January 30, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29379561/haplotype-analysis-of-dxs548-and-fraxac1-microsatellite-loci-in-iranian-patients-with-fragile-x-syndrome
#11
Seyed Ahmad Aleyasin, Fatemeh Salamat, Mojgan Mirakhori
Objective: Fragile X syndrome (FXS) is the most common cause of inherited mental retardation caused by expansion of a (CGG) repeat region up to 1000 repeat in 5' region of the FMR1 gene located in FRAXA locus Xq27.3. To better understand the mechanism involved in expansion of CGG region, the molecular characteristic of the flanking microsatellite markers in the region must be clarify in different populations. We aimed to examine the potential association between specific haplotype and the expanded AC-repeat region in cases and controls chromosomes...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29379191/genetic-cluster-of-fragile-x-syndrome-in-a-colombian-district
#12
Wilmar Saldarriaga, Jose Vicente Forero-Forero, Laura Yuriko González-Teshima, Andrés Fandiño-Losada, Carolina Isaza, Jose Rafael Tovar-Cuevas, Marisol Silva, Nimrah S Choudhary, Hiu-Tung Tang, Sergio Aguilar-Gaxiola, Randi J Hagerman, Flora Tassone
BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 females. Population screening for FMR1 expanded alleles has been performed in newborns and in an adult population. However, it has never been carried out in an entire town. Ricaurte is a Colombian district with 1186 habitants, with a high prevalence of FXS, which was first described by cytogenetic techniques in 1999...
January 29, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29378522/auditory-repetition-suppression-alterations-in-relation-to-cognitive-functioning-in-fragile-x-syndrome-a-combined-eeg-and-machine-learning-approach
#13
Inga Sophia Knoth, Tarek Lajnef, Simon Rigoulot, Karine Lacourse, Phetsamone Vannasing, Jacques L Michaud, Sébastien Jacquemont, Philippe Major, Karim Jerbi, Sarah Lippé
BACKGROUND: Fragile X syndrome (FXS) is a neurodevelopmental genetic disorder causing cognitive and behavioural deficits. Repetition suppression (RS), a learning phenomenon in which stimulus repetitions result in diminished brain activity, has been found to be impaired in FXS. Alterations in RS have been associated with behavioural problems in FXS; however, relations between RS and intellectual functioning have not yet been elucidated. METHODS: EEG was recorded in 14 FXS participants and 25 neurotypical controls during an auditory habituation paradigm using repeatedly presented pseudowords...
January 29, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29367010/chronic-minocycline-treatment-improves-hippocampal-neuronal-structure-nmda-receptor-function-and-memory-processing-in-fmr1-knockout-mice
#14
S Y Yau, Luis Bettio, M Vetrici, A Truesdell, C Chiu, J Chiu, E Truesdell, B R Christie
Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability, and is the leading known single-gene cause of autism spectrum disorder. FXS patients display varied behavioural deficits that include mild to severe cognitive impairments in addition to mood disorders. Currently there is no cure for this condition, however minocycline is becoming commonly prescribed as a treatment for FXS patients. Minocycline has been reported to alleviate social behavioural deficits, and improve verbal functioning in patients with FXS; however, its mode of action is not well understood...
January 20, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29358017/normal-ca1-place-fields-but-discoordinated-network-discharge-in-a-fmr1-null-mouse-model-of-fragile-x-syndrome
#15
Zoe Nicole Talbot, Fraser Todd Sparks, Dino Dvorak, Bridget Mary Curran, Juan Marcos Alarcon, André Antonio Fenton
Silence of FMR1 causes loss of fragile X mental retardation protein (FMRP) and dysregulated translation at synapses, resulting in the intellectual disability and autistic symptoms of fragile X syndrome (FXS). Synaptic dysfunction hypotheses for how intellectual disabilities like cognitive inflexibility arise in FXS predict impaired neural coding in the absence of FMRP. We tested the prediction by comparing hippocampus place cells in wild-type and FXS-model mice. Experience-driven CA1 synaptic function and synaptic plasticity changes are excessive in Fmr1-null mice, but CA1 place fields are normal...
January 12, 2018: Neuron
https://www.readbyqxmd.com/read/29348038/children-with-fragile-x-syndrome-display-threat-specific-biases-toward-emotion
#16
Jessica L Burris, Ryan A Barry-Anwar, Riley N Sims, Randi J Hagerman, Flora Tassone, Susan M Rivera
BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is caused by a silencing of the FMR1 gene that results in a loss or absence of the gene's protein product, fragile X mental retardation protein. The phenotype of FXS is consistently associated with heightened anxiety, although no previous study has investigated attentional bias toward threat, a hallmark of anxiety disorders, in individuals with FXS. METHODS: The current study employed a passive-viewing eye-tracking version of the dot probe task to investigate attentional biases toward emotional faces in young children with FXS (n = 47) and without FXS (n = 94)...
September 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29346381/control-of-recollection-by-slow-gamma-dominating-mid-frequency-gamma-in-hippocampus-ca1
#17
Dino Dvorak, Basma Radwan, Fraser T Sparks, Zoe Nicole Talbot, André A Fenton
Behavior is used to assess memory and cognitive deficits in animals like Fmr1-null mice that model Fragile X Syndrome, but behavior is a proxy for unknown neural events that define cognitive variables like recollection. We identified an electrophysiological signature of recollection in mouse dorsal Cornu Ammonis 1 (CA1) hippocampus. During a shocked-place avoidance task, slow gamma (SG) (30-50 Hz) dominates mid-frequency gamma (MG) (70-90 Hz) oscillations 2-3 s before successful avoidance, but not failures...
January 18, 2018: PLoS Biology
https://www.readbyqxmd.com/read/29339535/functional-changes-of-ampa-responses-in-human-induced-pluripotent-stem-cell-derived-neural-progenitors-in-fragile-x-syndrome
#18
Venkat Swaroop Achuta, Tommi Möykkynen, Ulla-Kaisa Peteri, Giorgio Turconi, Claudio Rivera, Kari Keinänen, Maija L Castrén
Altered neuronal network formation and function involving dysregulated excitatory and inhibitory circuits are associated with fragile X syndrome (FXS). We examined functional maturation of the excitatory transmission system in FXS by investigating the response of FXS patient-derived neural progenitor cells to the glutamate analog (AMPA). Neural progenitors derived from induced pluripotent stem cell (iPSC) lines generated from boys with FXS had augmented intracellular Ca2+ responses to AMPA and kainate that were mediated by Ca2+-permeable AMPA receptors (CP-AMPARs) lacking the GluA2 subunit...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29333915/gaze-avoidance-and-perseverative-language-in-fragile-x-syndrome-and-autism-spectrum-disorder-brief-report
#19
Laura Friedman, Audra Sterling, Andrea Barton-Hulsey
Gaze avoidance and perseverative language impact pragmatics in autism spectrum disorder (ASD) and fragile X syndrome (FXS). We examined these features during conversation samples in boys with ASD (n = 10) and boys with FXS and ASD (FXS+ASD; n = 10). Both groups had similar high rates of gaze avoidance and topic and conversation device perseverations, yet these features were not correlated with one another. Boys with FXS+ASD produced a higher proportion of single utterance perseverations. Results from this study highlight the need for future research to identify potential mechanisms influencing the presence of language perseverations and gaze avoidance...
January 15, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#20
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
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