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https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#1
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28802096/comparison-of-cleaning-methods-for-delicate-insect-specimens-for-scanning-electron-microscopy
#2
Katharina Schneeberg, René Bauernfeind, Hans Pohl
The objective of the present study was to compare cleaning methods for delicate insect specimens for investigations with scanning electron microscopy (SEM). As typical specimens we used aquatic larvae of mosquitoes, springtails, larvae of mayflies and caterpillars because they are very fragile and large parts of their body consist of soft tissue. Additionally their cuticle is very often covered with dirt, soil particles or other materials. Cleaning with ultrasonic sound, as the most common cleaning method used for SEM, will destroy fragile insects...
August 12, 2017: Microscopy Research and Technique
https://www.readbyqxmd.com/read/28801583/effect-of-x-ray-irradiation-on-hepatocarcinoma-cells-and-erythrocytes-in-salvaged-blood
#3
Feng-Jiang Zhang, Jin-Ting Yang, Li-Hui Tang, Wen-Na Wang, Kai Sun, Yue Ming, Kanhar Ghulam Muhammad, Yin-Fei Zheng, Min Yan
The broad clinical acceptance of intraoperative blood salvage and its applications in cancer surgery remain controversial. Until now, a method that can safely eliminate cancer cells while preserving erythrocytes does not exist. Here, we investigated whether X-ray generated from linear accelerator irradiation at a certain dose can kill hepatocarcinoma cells while preserving erythrocytes. HepG2, SK-Hep1 or Huh7 cells were mixed into the aliquots of erythrocytes obtained from healthy volunteers. After the mixed cells were exposed to 30 Gy and 50 Gy X-rays irradiation, the viability, clonogenicity, DNA synthesis and tumorigenicity of the tumor cells were determined by the MTT assay, plate colony formation, 5-ethynyl-2'-deoxyuridine incorporation, and subcutaneous xenograft implantation into immunocompromised mice...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28800512/metabotropic-glutamate-receptors-as-emerging-research-targets-in-bipolar-disorder
#4
REVIEW
Caren J Blacker, Charles P Lewis, Mark A Frye, Marin Veldic
Glutamatergic dysregulation is implicated in the neuropathology of bipolar disorder (BD). There is increasing interest in investigating the role of metabotropic glutamate receptors (mGluRs) in BD and as a target for treatment intervention. Bipolar mGluR studies (published January 1992-April 2016) were identified via PubMed, Embase, Web of Science, and Scopus. Full-text screening, data extraction, and quality appraisal were conducted in duplicate, with strict inclusion and exclusion criteria. The initial literature search for mGluRs in BD, including non-bipolar mood disorders and primary psychotic disorders, identified 1544 articles...
July 31, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28795340/vertebral-fractures-assessed-with-dual-energy-x-ray-absorptiometry-in-patients-with-addison-s-disease-on-glucocorticoid-and-mineralocorticoid-replacement-therapy
#5
Valentina Camozzi, Corrado Betterle, Anna Chiara Frigo, Veronica Zaccariotto, Martina Zaninotto, Erica De Caneva, Paola Lucato, Walter Gomiero, Silvia Garelli, Chiara Sabbadin, Monica Salvà, Miriam Dalla Costa, Marco Boscaro, Giovanni Luisetto
PURPOSE: to assess bone damage and metabolic abnormalities in patients with Addison's disease given replacement doses of glucocorticoids and mineralocorticoids. METHODS: A total of 87 patients and 81 age-matched and sex-matched healthy controls were studied. The following parameters were measured: urinary cortisol, serum calcium, phosphorus, creatinine, 24-h urinary calcium excretion, bone alkaline phosphatase, parathyroid hormone, serum CrossLaps, 25 hydroxyvitamin D, and 1,25 dihydroxyvitamin D...
August 9, 2017: Endocrine
https://www.readbyqxmd.com/read/28794184/post-transcriptional-regulation-of-mouse-neurogenesis-by-pumilio-proteins
#6
Meng Zhang, Dong Chen, Jing Xia, Wenqi Han, Xiekui Cui, Nils Neuenkirchen, Gretchen Hermes, Nenad Sestan, Haifan Lin
Despite extensive studies on mammalian neurogenesis, its post-transcriptional regulation remains under-explored. Here we report that neural-specific inactivation of two murine post-transcriptional regulators, Pumilio 1 (Pum1) and Pum2, severely reduced the number of neural stem cells (NSCs) in the postnatal dentate gyrus (DG), drastically increased perinatal apoptosis, altered DG cell composition, and impaired learning and memory. Consistently, the mutant DG neurospheres generated fewer NSCs with defects in proliferation, survival, and differentiation, supporting a major role of Pum1 and Pum2 in hippocampal neurogenesis and function...
August 9, 2017: Genes & Development
https://www.readbyqxmd.com/read/28793261/the-conserved-disease-associated-rna-binding-protein-dnab2-interacts-with-the-fragile-x-protein-ortholog-in-drosophila-neurons
#7
Rick S Bienkowski, Ayan Banerjee, J Christopher Rounds, Jennifer Rha, Omotola F Omotade, Christina Gross, Kevin J Morris, Sara W Leung, ChangHui Pak, Stephanie K Jones, Michael R Santoro, Stephen T Warren, James Q Zheng, Gary J Bassell, Anita H Corbett, Kenneth H Moberg
The Drosophila dNab2 protein is an ortholog of human ZC3H14, a poly(A) RNA binding protein required for intellectual function. dNab2 supports memory and axon projection, but its molecular role in neurons is undefined. Here, we present a network of interactions that links dNab2 to cytoplasmic control of neuronal mRNAs in conjunction with the fragile X protein ortholog dFMRP. dNab2 and dfmr1 interact genetically in control of neurodevelopment and olfactory memory, and their encoded proteins co-localize in puncta within neuronal processes...
August 8, 2017: Cell Reports
https://www.readbyqxmd.com/read/28777485/pls3-deletions-lead-to-severe-spinal-osteoporosis-and-disturbed-bone-matrix-mineralization
#8
Kämpe Aj, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis Ep, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O
Mutations in the PLS3 gene, encoding Plastin 3, were described in 2013 as a cause for X-linked primary bone fragility in children. The specific role of PLS3 in bone metabolism remains inadequately understood. Here we describe for the first time PLS3 deletions as the underlying cause for childhood-onset primary osteoporosis in three boys from two families. We carried out thorough clinical, radiological and bone tissue analyses to explore the consequences of these deletions and to further elucidate the role of PLS3 in bone homeostasis...
August 4, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28772121/cell-type-specific-translation-profiling-reveals-a-novel-strategy-for-treating-fragile-x-syndrome
#9
Sophie R Thomson, Sang S Seo, Stephanie A Barnes, Susana R Louros, Melania Muscas, Owen Dando, Caoimhe Kirby, David J A Wyllie, Giles E Hardingham, Peter C Kind, Emily K Osterweil
Excessive mRNA translation downstream of group I metabotropic glutamate receptors (mGlu1/5) is a core pathophysiology of fragile X syndrome (FX); however, the differentially translating mRNAs that contribute to altered neural function are not known. We used translating ribosome affinity purification (TRAP) and RNA-seq to identify mistranslating mRNAs in CA1 pyramidal neurons of the FX mouse model (Fmr1(-/y)) hippocampus, which exhibit exaggerated mGlu1/5-induced long-term synaptic depression (LTD). In these neurons, we find that the Chrm4 transcript encoding muscarinic acetylcholine receptor 4 (M4) is excessively translated, and synthesis of M4 downstream of mGlu5 activation is mimicked and occluded...
August 2, 2017: Neuron
https://www.readbyqxmd.com/read/28771250/should-we-implement-population-screening-for-fragile-x
#10
David P Dimmock
No abstract text is available yet for this article.
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28770038/erratum-to-neural-synchronization-deficits-linked-to-cortical-hyper-excitability-and-auditory-hypersensitivity-in-fragile-x-syndrome
#11
Lauren E Ethridge, Stormi P White, Matthew W Mosconi, Jun Wang, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
[This corrects the article DOI: 10.1186/s13229-017-0140-1.].
2017: Molecular Autism
https://www.readbyqxmd.com/read/28767039/fxr1-regulates-transcription-and-is-required-for-tumor-growth-in-tp53-homozygous-deletion-human-cancers
#12
Yichao Fan, Jiao Yue, Mengtao Xiao, Han Han-Zhang, Yao Vickie Wang, Chun Ma, Zhilin Deng, Yingxiang Li, Yanyan Yu, Xinghao Wang, Shen Niu, Youjia Hua, Zhiping Weng, Peter Atadja, En Li, Bin Xiang
Tumor suppressor p53 prevents cell transformation by inducing apoptosis and other responses. Homozygous TP53 deletion occurs in various types of human cancers for which no therapeutic strategies have yet been reported. Based on TCGA database analysis, TP53 homozygous deletion locus mostly exhibits co-deletion of the neighboring gene FXR2, which belongs to the Fragile X gene family. Here, we demonstrate that inhibition of the remaining family member FXR1 selectively blocks cell proliferation in cancer cells containing homozygous deletion of both TP53 and FXR2 in a collateral lethality manner...
August 2, 2017: ELife
https://www.readbyqxmd.com/read/28764992/impact-on-gaba-systems-in-monogenetic-developmental-cns-disorders-clues-to-symptomatic-treatment
#13
REVIEW
Dietmar Benke, Hanns Möhler
Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including autism-like behavior, NONO-mutation-induced intellectual disability, Succinic semialdehyde dehydrogenase deficiency and Congenital nystagmus due to FRMD7 mutations...
July 29, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28764646/a-randomized-double-blind-placebo-controlled-trial-of-ganaxolone-in-children-and-adolescents-with-fragile-x-syndrome
#14
Andrew Ligsay, Anke Van Dijck, Danh V Nguyen, Reymundo Lozano, Yanjun Chen, Erika S Bickel, David Hessl, Andrea Schneider, Kathleen Angkustsiri, Flora Tassone, Berten Ceulemans, R Frank Kooy, Randi J Hagerman
BACKGROUND: Gamma-aminobutyric acid (GABA) system deficits are integral to the pathophysiologic development of fragile X syndrome (FXS). Ganaxolone, a GABAA receptor positive allosteric modulator, is hypothesized to improve symptoms such as anxiety, hyperactivity, and attention deficits in children with FXS. METHODS: This study was a randomized, double-blind, placebo-controlled, crossover trial of ganaxolone in children with FXS, aged 6-17 years. RESULTS: Sixty-one participants were assessed for eligibility, and 59 were randomized to the study...
August 2, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28764353/a-fully-tetrahedral-and-highly-corner-sharing-network-model-of-zncl2-glass-and-its-comparison-to-sio2-glass
#15
Laura A Swansbury, Gavin Mountjoy
Zinc chloride, ZnCl2, is intermediate between a strong and a fragile glass former. During computational simulations, it is therefore important to account for ion polarizability. This, together with the lack of suitable interatomic potential parameters, is the likely cause for the lack of modeling studies on ZnCl2 glass which contain a high degree of ZnCl4 tetrahedral units. Through using accurate interatomic potential parameters and applying the adiabatic core-shell model, the first fully tetrahedral model of ZnCl2 glass was obtained...
July 28, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28756946/fragile-x-mental-retardation-protein-requirements-in-activity-dependent-critical-period-neural-circuit-refinement
#16
Caleb A Doll, Dominic J Vita, Kendal Broadie
Activity-dependent synaptic remodeling occurs during early-use critical periods, when naive juveniles experience sensory input. Fragile X mental retardation protein (FMRP) sculpts synaptic refinement in an activity sensor mechanism based on sensory cues, with FMRP loss causing the most common heritable autism spectrum disorder (ASD), fragile X syndrome (FXS). In the well-mapped Drosophila olfactory circuitry, projection neurons (PNs) relay peripheral sensory information to the central brain mushroom body (MB) learning/memory center...
August 7, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28751920/common-clinical-characteristics-and-rare-medical-problems-of-fragile-x-syndrome-in-thai-patients-and-review-of-the-literature
#17
Chariyawan Charalsawadi, Juthamas Wirojanan, Somchit Jaruratanasirikul, Nichara Ruangdaraganon, Alan Geater, Pornprot Limprasert
Background. Clinical characteristics of fragile X syndrome (FXS) have been well documented in Caucasians, whereas in Asians they have rarely been described. Those that have been conducted used small cohorts that utilized DNA for diagnosis and larger cohorts that utilized cytogenetics for diagnosis. This study is to describe clinical characteristics of FXS in a large cohort of Thai patients diagnosed by standard molecular methods. Methods. Seventy-seven index cases and 46 affected relatives diagnosed with FXS were recruited into the study...
2017: International Journal of Pediatrics
https://www.readbyqxmd.com/read/28748388/pls3-sequencing-in-childhood-onset-primary-osteoporosis-identifies-two-novel-disease-causing-variants
#18
A J Kämpe, A Costantini, R E Mäkitie, N Jäntti, H Valta, M Mäyränpää, H Kröger, M Pekkinen, F Taylan, H Jiao, O Mäkitie
Altogether 95 children with primary bone fragility were screened for variants in PLS3, the gene underlying X-linked osteoporosis. Two children with multiple peripheral and spinal fractures and low BMD had novel disease-causing PLS3 variants. Children with milder phenotypes had no pathogenic variants. PLS3 screening is indicated in childhood-onset primary osteoporosis. INTRODUCTION: The study aimed to determine the role of pathogenic PLS3 variants in children's bone fragility and to elucidate the associated phenotypic features...
July 26, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28747889/distribution-of-silicified-microstructures-regulation-of-cinnamyl-alcohol-dehydrogenase-and-lodging-resistance-in-silicon-and-paclobutrazol-mediated-oryza-sativa
#19
Deivaseeno Dorairaj, Mohd Razi Ismail
Lodging is a phenomenon that affects most of the cereal crops including rice, Oryza sativa. This is due to the fragile nature of herbaceous plants whose stems are non-woody, thus affecting its ability to grow upright. Silicon (Si), a beneficial nutrient is often used to toughen and protect plants from biotic and abiotic stresses. Deposition of Si in plant tissues enhances the rigidity and stiffness of the plant as a whole. Silicified cells provide the much needed strength to the culm to resist breaking. Lignin plays important roles in cell wall structural integrity, stem strength, transport, mechanical support, and plant pathogen defense...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28744893/tonotopic-alterations-in-inhibitory-input-to-the-medial-nucleus-of-the-trapezoid-body-in-a-mouse-model-of-fragile-x-syndrome
#20
Elizabeth A McCullagh, Ernesto Salcedo, Molly M Huntsman, Achim Klug
Hyperexcitability and the imbalance of excitation/inhibition are one of the leading causes of abnormal sensory processing in Fragile X syndrome (FXS). The precise timing and distribution of excitation and inhibition is crucial for auditory processing at the level of the auditory brainstem, which is responsible for sound localization ability. Sound localization is one of the sensory abilities disrupted by loss of the Fragile X Mental Retardation 1 (Fmr1) gene. Using triple immunofluorescence staining we tested whether there were alterations in the number and size of presynaptic structures for the three primary neurotransmitters (glutamate, glycine, and GABA) in the auditory brainstem of Fmr1 knockout mice...
July 26, 2017: Journal of Comparative Neurology
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