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Fragile-X

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https://www.readbyqxmd.com/read/28735260/aetiological-investigations-in-early-developmental-impairment-are-they-worth-it
#1
Anthony Richard Hart, Ruchi Sharma, Mark Atherton, Samer Alabed, Sally Simpson, Stuart Barfield, Judith Cohen, Nicholas McGlashan, Asha Ravi, Michael James Parker, Daniel Ja Connolly
OBJECTIVE: To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations. DESIGN: Retrospective case note review. SETTING: Community, neurodisability and neurology department at a UK tertiary centre. PARTICIPANTS: Children referred to determine the aetiology of EDI where a cause was not evident on history and examination...
July 22, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28730825/the-implication-of-ampa-receptor-in-synaptic-plasticity-impairment-and-intellectual-disability-in-fragile-x-syndrome
#2
G-R Cheng, X-Y Li, Y-D Xiang, D Liu, S M McClintock, Y Zeng
Fragile X syndrome (FXS) is the most frequently inherited form of intellectual disability and prevalent single-gene cause of autism. A priority of FXS research is to determine the molecular mechanisms underlying the cognitive and social functioning impairments in humans and the FXS mouse model. Glutamate ionotropic alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptors (AMPARs) mediate a majority of fast excitatory neurotransmission in the central nervous system and are critically important for nearly all aspects of brain function, including neuronal development, synaptic plasticity, and learning and memory...
July 18, 2017: Physiological Research
https://www.readbyqxmd.com/read/28728902/role-of-mirnas-in-development-and-disease-lessons-learnt-from-small-organisms
#3
REVIEW
Swati Chandra, Divya Vimal, Divya Sharma, Vipin Rai, Subash Chandra Gupta, D Kar Chowdhuri
MicroRNAs (miRNAs) constitute a class of small (21-24 nucleotides) non-coding RNAs that regulate gene expression at the post-transcriptional level. Caenorhabditis elegans, Drosophila melanogaster, and many other small organisms have been instrumental in deciphering the biological functions of miRNAs. While some miRNAs from small organisms are highly conserved across the taxa, others are organism specific. The miRNAs are known to play a crucial role during development and in various cellular functions such as cell survival, cell proliferation, and differentiation...
July 17, 2017: Life Sciences
https://www.readbyqxmd.com/read/28722023/potential-involvement-of-impaired-bkca-channel-function-in-sensory-defensiveness-and-some-behavioral-disturbances-induced-by-unfamiliar-environment-in-a-mouse-model-of-fxs
#4
Maria Isabel Carreno-Munoz, Fabienne Martins, Maria Carmen Medrano, Elisabetta Aloisi, Susanna Pietropaolo, Corentin Dechaud, Enejda Subashi, Guillaume Bony, Melanie Ginger, Abdelmalik Moujahid, Andreas Frick, Xavier Leinekugel
In Fragile X Syndrome (FXS), sensory-hypersensitivity and impaired habituation is thought to result in attention overload and various behavioral abnormalities in reaction to the excessive and remanent salience of environment-features that would normally be ignored. This phenomenon, termed sensory defensiveness, has been proposed as the potential cause of hyperactivity, hyperarousal, and negative reactions to changes in routine that are often deleterious for FXS patients. However, the lack of tools for manipulating sensory-hypersensitivity has not allowed the experimental testing required to evaluate the relevance of this hypothesis...
July 19, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28720156/fmr1-cgg-repeat-expansion-mutation-detection-and-linked-haplotype-analysis-for-reliable-and-accurate-preimplantation-genetic-diagnosis-of-fragile-x-syndrome
#5
Indhu-Shree Rajan-Babu, Mulias Lian, Felicia S H Cheah, Min Chen, Arnold S C Tan, Ethiraj B Prasath, Seong Feei Loh, Samuel S Chong
Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification...
July 19, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28719137/neocortical-developmental-analysis-of-vasculature-and-their-growth-factors-offer-new-insight-into-fragile-x-syndrome-abnormalities
#6
Amogh P Belagodu, Stephen Fleming, Roberto Galvez
Fragile X Syndrome (FXS) is the most common single gene cause for Autism Spectrum Disorder and the most prevalent form of inherited mental retardation. Our prior studies have demonstrated that adult FXS mice have abnormal blood vessel density (BVD) and elevated Vascular Endothelial Growth Factor A expression (VEGF-A). VEGF-A is one of the most prominent regulators of BVD, and its abnormal expression is the most likely cause for FXS BVD abnormalities. We have demonstrated that attenuating elevated VEGF-A expression can ameliorate many non-vascular FXS abnormalities(Belagodu et al...
July 18, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28719003/mutation-intolerant-genes-and-targets-of-fmrp-are-enriched-for-nonsynonymous-alleles-in-schizophrenia
#7
Ganna Leonenko, Alexander L Richards, James T Walters, Andrew Pocklington, Kimberly Chambert, Mariam M Al Eissa, Sally I Sharp, Niamh L O'Brien, David Curtis, Nicholas J Bass, Andrew McQuillin, Christina Hultman, Jennifer L Moran, Steven A McCarroll, Pamela Sklar, Benjamin M Neale, Peter A Holmans, Michael J Owen, Patrick F Sullivan, Michael C O'Donovan
Risk of schizophrenia is conferred by alleles occurring across the full spectrum of frequencies from common SNPs of weak effect through to ultra rare alleles, some of which may be moderately to highly penetrant. Previous studies have suggested that some of the risk of schizophrenia is attributable to uncommon alleles represented on Illumina exome arrays. Here, we present the largest study of exomic variation in schizophrenia to date, using samples from the United Kingdom and Sweden (10,011 schizophrenia cases and 13,791 controls)...
July 18, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28707277/open-label-allopregnanolone-treatment-of-men-with-fragile-x-associated-tremor-ataxia-syndrome
#8
J Y Wang, A M Trivedi, N R Carrillo, J Yang, A Schneider, C Giulivi, P Adams, F Tassone, K Kim, S M Rivera, N Lubarr, C-Y Wu, R W Irwin, R D Brinton, J M Olichney, M A Rogawski, R J Hagerman
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting approximately 45% of male and 16% of female carriers of the FMR1 premutation over the age of 50 years. Currently, no effective treatment is available. We performed an open-label intervention study to assess whether allopregnanolone, a neurosteroid promoting regeneration and repair, can improve clinical symptoms, brain activity, and magnetic resonance imaging (MRI) measurements in patients with FXTAS. Six patients underwent weekly intravenous infusions of allopregnanolone (2-6 mg over 30 min) for 12 weeks...
July 13, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28699511/striatal-enriched-tyrosine-protein-phosphatase-step-in-the-mechanisms-of-depressive-disorders
#9
Elizabeth Kulikova, Alexander Kulikov
Striatal-enriched tyrosine protein phosphatase (STEP) is expressed mainly in the brain. Its dysregulation is associated with Alzheimer's and Huntington's diseases, schizophrenia, fragile X syndrome, drug abuse and stroke/ischemia. However, an association between STEP and depressive disorders is still obscure. The review discusses the theoretical foundations and experimental facts concerning possible relationship between STEP dysregulation and depression risk. STEP dephosphorylates and inactivates several key neuronal signaling proteins such as extracellular signal-regulating kinase 1 and 2 (ERK1/2), stress activated protein kinases p38, the Src family tyrosine kinases Fyn, Pyk2, NMDA and AMPA glutamate receptors...
July 10, 2017: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/28697590/prevalence-of-fragile-x-syndrome-among-children-receiving-special-education-and-carrier-states-in-first-degree-relatives
#10
B Chandrasekara, S Wijesundera, S S Chong, H N Perera
Introduction: Fragile X syndrome (FXS) is a genetically determined developmental disorder. Underlying genotype is cytosine-guanine-guanine (CGG) repeat expansions with over 200 repeats in the fragile X mental retardation 1 (FMR1) gene. Children with FXS are most accessible in special education institutions in Sri Lanka, with a total of approximately 6000 registered attendees. Objectives: The aim of the current study was to estimate the prevalence of FXS among special school attendees and to screen first degree relatives of affected children...
June 30, 2017: Ceylon Medical Journal
https://www.readbyqxmd.com/read/28697292/fragile-x-associated-disorders-don-t-miss-them
#11
Rachael C Birch, Jonathan Cohen, Julian N Trollor
BACKGROUND: Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed...
2017: Australian Family Physician
https://www.readbyqxmd.com/read/28689930/long-term-verbal-memory-recall-deficits-in-fragile-x-premutation-females
#12
Annie L Shelton, Kim Cornish, Joanne Fielding
Carriers of a FMR1 premutation allele (between 55 and 199 CGG repeats) are at risk of developing a wide range of medical, psychiatric and cognitive disorders, including executive dysfunction. These cognitive deficits are often less severe for female premutation carriers compared to male premutation carriers, albeit similar in nature. However, it remains unclear whether female premutation carriers who exhibit executive dysfunction also report verbal learning and memory deficits like those of their male counterparts...
July 6, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28688003/increased-training-intensity-induces-proper-membrane-localization-of-actin-remodeling-proteins-in-the-hippocampus-preventing-cognitive-deficits-implications-for-fragile-x-syndrome
#13
L A Martinez, Maria Victoria Tejada-Simon
Behavioral intervention therapy has proven beneficial in the treatment of autism and intellectual disabilities (ID), raising the possibility of certain changes in molecular mechanisms activated by these interventions that may promote learning. Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by autistic features and intellectual disability and can serve as a model to examine mechanisms that promote learning. FXS results from mutations in the fragile X mental retardation 1 gene (Fmr1) that prevents expression of the Fmr1 protein (FMRP), a messenger RNA (mRNA) translation regulator at synapses...
July 8, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28687074/strength-of-functional-signature-correlates-with-effect-size-in-autism
#14
Sara Ballouz, Jesse Gillis
BACKGROUND: Disagreements over genetic signatures associated with disease have been particularly prominent in the field of psychiatric genetics, creating a sharp divide between disease burdens attributed to common and rare variation, with study designs independently targeting each. Meta-analysis within each of these study designs is routine, whether using raw data or summary statistics, but combining results across study designs is atypical. However, tests of functional convergence are used across all study designs, where candidate gene sets are assessed for overlaps with previously known properties...
July 7, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28685837/proteomic-analyses-of-nucleus-laminaris-identified-candidate-targets-of-the-fragile-x-mental-retardation-protein
#15
Hitomi Sakano, Diego A R Zorio, Xiaoyu Wang, Ying S Ting, William S Noble, Michael J MacCoss, Edwin W Rubel, Yuan Wang
The avian nucleus laminaris (NL) is a brainstem nucleus necessary for binaural processing, analogous in structure and function to the mammalian medial superior olive. In chickens (Gallus gallus), NL is a well-studied model system for activity-dependent neural plasticity. Its neurons have bipolar extension of dendrites, which receive segregated inputs from two ears and display rapid and compartment-specific reorganization in response to unilateral changes in auditory input. More recently, FMRP (fragile X mental retardation protein), an RNA-binding protein that regulates local protein translation, has been shown to be enriched in NL dendrites, suggesting its potential role in the structural dynamics of these dendrites...
July 7, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28676484/a-therapy-for-fxs
#16
Leslie K Ferrarelli
The antidiabetic drug metformin might be repurposed to treat patients with fragile X syndrome.
July 4, 2017: Science Signaling
https://www.readbyqxmd.com/read/28674175/enhanced-excitatory-connectivity-and-disturbed-sound-processing-in-the-auditory-brainstem-of-fragile-x-mice
#17
Elisabet Garcia-Pino, Nikodemus Gessele, Ursula Koch
Hypersensitivity to sounds is one of the prevalent symptoms in individuals with Fragile X syndrome (FXS). It manifests behaviorally early during development and is often used as a landmark for treatment efficacy. However, the physiological mechanisms and circuit-level alterations underlying this aberrant behavior remain poorly understood. Using the mouse model of FXS (Fmr1 KO) we demonstrate that functional maturation of auditory brainstem synapses is impaired in FXS. Fmr1 KO mice showed a greatly enhanced excitatory synaptic input strength in neurons of the lateral superior olive (LSO), a prominent auditory brainstem nucleus, which integrates ipsilateral excitation and contralateral inhibition to compute interaural level differences (ILDs)...
July 3, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28668215/-social-cognition-in-children-with-neurogenetic-syndromes-a-literature-review
#18
A Morel, C Demily
Social cognitive impairments may largely contribute to reduced social skills and adaptive problems in individuals with microdeletion syndromes associated with behavioral and psychiatric phenotypes. Understanding the role of social information processing deficits in the emergence of psychotic disorders is a crucial challenge in the management of these patients. Each neurogenetic disorder is characterized by a specific social cognition phenotype. Clarifying the social ability profile of each population may help adjust patient care according to their key strengths and weaknesses...
June 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28661491/informed-decision-making-and-psychosocial-outcomes-in-pregnant-and-nonpregnant-women-offered-population-fragile-x-carrier-screening
#19
Sylvia A Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D Archibald, Grad Dip Gen Couns, Rob Carter, Jonathan Cohen, Megan Cotter, M GenCouns, William Dang, Martin B Delatycki, Susan Donath, Samantha Edwards, PGrad Dip Educ, Grad Dip Gen Couns, Robin Forbes, Grad Dip Gen Couns, Mioara Gavrila, M MedSci, Jane Halliday, Chriselle Hickerton, Melissa Hill, Grad Dip Gen Couns, Lorilli Jacobs, PGrad Dip Ultrasound, Vicki Petrou, Grad Dip Gen Couns, Loren Plunkett, M GenCouns, Leslie Sheffield, F Racp, Alison Thornton, Grad Dip Gen Couns, Sandra Younie, PGrad Dip Hlth Econ, Jon D Emery
PurposePopulation-based carrier screening for fragile X syndrome (FXS) is still not universally endorsed by professional organizations due to concerns around genetic counseling for complex information and potential for psychosocial harms.MethodsWe determined uptake levels, decision making, and psychosocial impact in a prospective study of pregnant and nonpregnant Australian women offered FXS carrier screening in clinical settings. Women received pretest genetic counseling, and completed questionnaires when deciding and one month later...
June 29, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28660769/platelets-as-a-surrogate-disease-model-of-neurodevelopmental-disorders-insights-from-fragile-x-syndrome
#20
David Pellerin, Audrey Lortie, François Corbin
Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability and the leading monogenic cause of autism spectrum disorders (ASD). Despite a large number of therapeutics developed in past years, there is currently no targeted treatment approved for FXS. In fact, translation of the positive and very promising preclinical findings from animal models to human subjects has so far fallen short owing in part to the low predictive validity of the Fmr1 ko mouse, an overly simplistic model of the complex human disease...
June 29, 2017: Platelets
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