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https://www.readbyqxmd.com/read/29164589/mir-214-protects-mc3t3-e1-osteoblasts-against-h2o2-induced-apoptosis-by-suppressing-oxidative-stress-and-targeting-atf4
#1
X-Z Lu, Z-H Yang, H-J Zhang, L-L Zhu, X-L Mao, Y Yuan
OBJECTIVE: Fragility fracture is one of the common complications of osteoporosis. Elevated oxidative stress-induced apoptosis is thought to be one of the unfavorable factors to osteoblastic dysfunction, which increased the risk of bone fracture. However, the molecular mechanisms for oxidative stress-induced osteoblast cells apoptosis still need to be elucidated. This study aims to investigate the protective function of miR-214 in H2O2-induced apoptosis of MC3T3-E1 osteoblasts. MATERIALS AND METHODS: MC3T3-E1 cells were treated with 400 μM H2O2...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29164586/functions-of-micrornas-in-osteoporosis
#2
D-W Ge, W-W Wang, H-T Chen, L Yang, X-J Cao
Osteoporosis (OP) is a kind of disease with a 25% incidence, characterized by the bone mass loss, bone microstructure damage, increased bone fragility, and easy fracture. miRNA plays an important regulatory role in the process of bone remodeling, especially in the regulation of differentiation and function of osteoblasts and osteoclasts, and the development and progression of OP and other bone diseases. In the future, it is expected to delay the bone loss and promote the bone remodeling via the overexpression or inhibition of specific miRNAs in specific tissues, thereby treating OP...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29163631/prenatal-diagnosis-of-fragile-x-can-a-full-mutation-allele-in-the-fmr1-gene-contract-to-a-normal-size
#3
Esther Manor, Azhar Jabareen, Nurit Magal, Arei Kofman, Randi J Hagerman, Flora Tassone
Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fetus 19 CGG repeats allele derived from the maternal unstable allele which was inherited from his maternal grandmother. No size mosaicism was detected by testing the DNA from in vitro cultured samples, including seventh passage culture as well as from two amniocentesis samples...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29163124/the-search-for-an-effective-therapy-to-treat-fragile-x-syndrome-dream-or-reality
#4
REVIEW
Sara Castagnola, Barbara Bardoni, Thomas Maurin
Fragile X Syndrome (FXS) is the most common form of intellectual disability and a primary cause of autism. It originates from the lack of the Fragile X Mental Retardation Protein (FMRP), which is an RNA-binding protein encoded by the Fragile X Mental Retardation Gene 1 (FMR1) gene. Multiple roles have been attributed to this protein, ranging from RNA transport (from the nucleus to the cytoplasm, but also along neurites) to translational control of mRNAs. Over the last 20 years many studies have found a large number of FMRP mRNA targets, but it is still not clear which are those playing a critical role in the etiology of FXS...
2017: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/29163043/combination-therapy-in-fragile-x-syndrome-possibilities-and-pitfalls-illustrated-by-targeting-the-mglur5-and-gaba-pathway-simultaneously
#5
Shimriet Zeidler, Helen de Boer, Renate K Hukema, Rob Willemsen
Fragile X syndrome (FXS) is the most common monogenetic cause of intellectual disability and autism. The disorder is characterized by altered synaptic plasticity in the brain. Synaptic plasticity is tightly regulated by a complex balance of different synaptic pathways. In FXS, various synaptic pathways are disrupted, including the excitatory metabotropic glutamate receptor 5 (mGluR5) and the inhibitory γ-aminobutyric acid (GABA) pathways. Targeting each of these pathways individually, has demonstrated beneficial effects in animal models, but not in patients with FXS...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29162813/chemogenomic-analysis-reveals-key-role-for-lysine-acetylation-in-regulating-arc-stability
#6
Jasmin Lalonde, Surya A Reis, Sudhir Sivakumaran, Carl S Holland, Hendrik Wesseling, John F Sauld, Begum Alural, Wen-Ning Zhao, Judith A Steen, Stephen J Haggarty
The role of Arc in synaptic plasticity and memory consolidation has been investigated for many years with recent evidence that defects in the expression or activity of this immediate-early gene may also contribute to the pathophysiology of brain disorders including schizophrenia and fragile X syndrome. These results bring forward the concept that reversing Arc abnormalities could provide an avenue to improve cognitive or neurological impairments in different disease contexts, but how to achieve this therapeutic objective has remained elusive...
November 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/29161443/fragile-x-syndrome-with-congenital-diaphragmatic-hernia
#7
Archana Kadam, Anand Pandit, Sanjay Patole
The authors present a case of Fragile X syndrome (FXS) in siblings from an Indian family with no developmental delay in previous generations. The boy presented with developmental delay, autistic features and defiant behaviours that raised clinical suspicion. He also had congenital diaphragmatic hernia (CDH). Social anxiety and difficulty in making friends were the subtle features in his sister with dull normal intelligence. FXS was confirmed by clinical features and DNA testing. Intervention was initiated for both the siblings...
November 17, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29156134/organic-ice-resists
#8
William Tiddi, Anna Elsukova, Hoa Thanh Le, Pei Liu, Marco Beleggia, Anpan Han
Electron-beam lithography (EBL) is the backbone technology for patterning nanostructures and manufacturing nanodevices. It involves processing and handling synthetic resins in several steps, each requiring optimization and dedicated instrumentation in cleanroom environments. Here, we show that simple organic molecules, e.g. alcohols, condensed to form thin-films at low temperature demonstrate resist-like capabilities for EBL applications and beyond. The entire lithographic process takes place in a single instrument, and avoids exposing chemicals to the user and the need of cleanrooms...
November 20, 2017: Nano Letters
https://www.readbyqxmd.com/read/29151796/association-of-fragile-x-syndrome-robertsonian-translocation-13-22-and-autism-in-a-child
#9
Andreea Liana Rachisan, Alexandru Stefan Niculae, Ioana Tintea, Bianca Pop, Mariela Militaru, Aurel Bizo, Adrian Hrusca
We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X syndrome, and the patient also has a prior diagnosis of autism spectrum disorder. We emphasize the challenges in his behavioral management and outline future directions for his management...
2017: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29147750/the-association-between-childhood-fractures-and-adolescence-bone-outcomes-a-population-based-study-the-troms%C3%A3-study-fit-futures
#10
T Christoffersen, N Emaus, E Dennison, A-S Furberg, L Gracia-Marco, G Grimnes, O A Nilsen, D Vlachopoulos, A Winther, L A Ahmed
Childhood fracture may predict persistent skeletal fragility, but it may also reflect high physical activity which is beneficial to bone development. We observe a difference in the relationship between previous fracture and bone outcome across physical activity level and sex. Further elaboration on this variation is needed. PURPOSE: Childhood fracture may be an early marker of skeletal fragility, or increased levels of physical activity (PA), which are beneficial for bone mineral accrual...
November 16, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/29144507/the-fragile-x-mental-retardation-protein-regulates-tumor-invasiveness-related-pathways-in-melanoma-cells
#11
Francesca Zalfa, Vincenzo Panasiti, Simone Carotti, Maria Zingariello, Giuseppe Perrone, Laura Sancillo, Laura Pacini, Flavie Luciani, Vincenzo Roberti, Silvia D'Amico, Rosa Coppola, Simona Osella Abate, Rosa Alba Rana, Anastasia De Luca, Mark Fiers, Valentina Melocchi, Fabrizio Bianchi, Maria Giulia Farace, Tilmann Achsel, Jean-Christophe Marine, Sergio Morini, Claudia Bagni
The fragile X mental retardation protein (FMRP) is lacking or mutated in patients with the fragile X syndrome (FXS), the most frequent form of inherited intellectual disability. FMRP affects metastasis formation in a mouse model for breast cancer. Here we show that FMRP is overexpressed in human melanoma with high Breslow thickness and high Clark level. Furthermore, meta-analysis of the TCGA melanoma data revealed that high levels of FMRP expression correlate significantly with metastatic tumor tissues, risk of relapsing and disease-free survival...
November 16, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29143443/multiscale-characterisation-of-cortical-bone-composition-microstructure-and-nanomechanical-properties-in-experimentally-induced-osteoporosis
#12
Furqan A Shah, Adrian Stoica, Carina Cardemil, Anders Palmquist
Cortical bone plays a vital role in determining overall bone strength. We investigate the structural, compositional, and nanomechanical properties of cortical bone following ovariectomy (OVX) of 12 week old Sprague Dawley rats, since this animal model is frequently employed to evaluate the performance of implantable biomaterials in compromised bone healing conditions. Morphological parameters and material properties of bone in the geometrical centre of the femoral cortex were investigated four and eight weeks post-OVX and in unoperated controls (Ctrl), using X-ray micro-computed tomography, backscattered electron scanning electron microscopy, Raman spectroscopy, and nanoindentation...
November 16, 2017: Journal of Biomedical Materials Research. Part A
https://www.readbyqxmd.com/read/29142209/fbxo4-mediated-degradation-of-fxr1-suppresses-tumorigenesis-in-head-and-neck-squamous-cell-carcinoma
#13
Shuo Qie, Mrinmoyee Majumder, Katarzyna Mackiewicz, Breege V Howley, Yuri K Peterson, Philip H Howe, Viswanathan Palanisamy, J Alan Diehl
The Fbxo4 tumour suppressor is a component of an Skp1-Cul1-F-box E3 ligase for which two substrates are known. Here we show purification of SCF(Fbxo4) complexes results in the identification of fragile X protein family (FMRP, Fxr1 and Fxr2) as binding partners. Biochemical and functional analyses reveal that Fxr1 is a direct substrate of SCF(Fbxo4). Consistent with a substrate relationship, Fxr1 is overexpressed in Fbxo4 knockout cells, tissues and in human cancer cells, harbouring inactivating Fbxo4 mutations...
November 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/29134514/expression-of-bc1-impairs-spatial-learning-and-memory-in-alzheimer-s-disease-via-app-translation
#14
Tongmei Zhang, Pei Pang, Zemin Fang, Yu Guo, Hao Li, Xinyan Li, Tian Tian, Xin Yang, Wenting Chen, Shu Shu, Na Tang, Jianhua Wu, Houze Zhu, Lei Pei, Dan Liu, Qing Tian, Jian Wang, Lin Wang, Ling-Qiang Zhu, Youming Lu
Aggregation of amyloid-β (Aβ) peptides, which are the cleavage products of amyloid precursor protein (APP), is a major pathological hallmark in the brain of Alzheimer's disease (AD). Now, we know little about the roles of APP translation in the disease progression of AD. Here, we show that BC1, a long noncoding RNA (lncRNA), is expressed in the brain of AD mice. BC1 induces APP mRNA translation via association with a fragile X syndrome protein (FMRP). Inhibition of BC1 or BC1-FMRP association in AD mice blocks aggregation of Aβ in the brain and protects against the spatial learning and memory deficits...
November 13, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29133950/treating-a-novel-plasticity-defect-rescues-episodic-memory-in-fragile-x-model-mice
#15
W Wang, B M Cox, Y Jia, A A Le, C D Cox, K M Jung, B Hou, D Piomelli, C M Gall, Gary Lynch
Episodic memory, a fundamental component of human cognition, is significantly impaired in autism. We believe we report the first evidence for this problem in the Fmr1-knockout (KO) mouse model of Fragile X syndrome and describe potentially treatable underlying causes. The hippocampus is critical for the formation and use of episodes, with semantic (cue identity) information relayed to the structure via the lateral perforant path (LPP). The unusual form of synaptic plasticity expressed by the LPP (lppLTP) was profoundly impaired in Fmr1-KOs relative to wild-type mice...
November 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29128904/pharmacological-rescue-of-hippocampal-fear-learning-deficits-in-fragile-x-syndrome
#16
Luis A Martinez, Maria Victoria Tejada-Simon
Fragile X Syndrome (FXS) is the leading cause of autism spectrum disorder and intellectual disability and results from loss of Fragile X mental retardation protein (FMRP). In neurons, FMRP controls the translation of synaptic plasticity proteins that are implicated in learning and memory. FMRP also regulates development- and experience-dependent actin cytoskeleton remodeling within dendritic spines through the small Rho GTPase Rac1. Modulation of Rac1 activity is critical during synaptic plasticity as well as learning and memory...
November 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29128445/the-promise-of-induced-pluripotent-stem-cells-for-neurodevelopmental-disorders
#17
REVIEW
Katrin Linda, Carol Fiuza, Nael Nadif Kasri
A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder or "synaptopathy". In this review, we summarize the findings from recent studies in which iPSCs have been used to model specific neurodevelopmental syndromes, including Fragile X syndrome, Rett syndrome, Williams-Beuren syndrome and Phelan-McDermid syndrome...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29126394/prospective-study-of-autism-phenomenology-and-the-behavioural-phenotype-of-phelan-mcdermid-syndrome-comparison-to-fragile-x-syndrome-down-syndrome-and-idiopathic-autism-spectrum-disorder
#18
Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson, Christopher Oliver
BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS...
November 10, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29124408/ms-caspt2-study-of-the-ground-and-low-lying-states-of-csh
#19
Ján Škoviera, Ivan Černušák, Florent Louis, Pavel Neogrády
Correlated ab initio methods [CASPT2 and R-CCSD(T)] in conjunction with the ANO-RCC basis sets in large contraction were used to calculate potential energy curves (PECs) of the ground and excited electronic states of CsH(+) (doublets and quartets) with the inclusion of the scalar relativistic effects and spin-orbit interaction. The ground X(2)Σ(+) state is a rather fragile van der Waals molecular ion. The binding energy of this X(2)Σ(+) state provided by both computational methods is estimated to be 0.02-0...
November 9, 2017: Journal of Molecular Modeling
https://www.readbyqxmd.com/read/29116166/multiple-behavior-phenotypes-of-the-fragile-x-syndrome-mouse-model-respond-to-chronic-inhibition-of-phosphodiesterase-4d-pde4d
#20
Mark E Gurney, Patricia Cogram, Robert M Deacon, Christopher Rex, Michael Tranfaglia
Fragile-X syndrome (FXS) patients display intellectual disability and autism spectrum disorder due to silencing of the X-linked, fragile-X mental retardation-1 (FMR1) gene. Dysregulation of cAMP metabolism is a consistent finding in patients and in the mouse and fly FXS models. We therefore explored if BPN14770, a prototypic phosphodiesterase-4D negative allosteric modulator (PDE4D-NAM) in early human clinical trials, might provide therapeutic benefit in the mouse FXS model. Daily treatment of adult male fmr1 C57Bl6 knock-out mice with BPN14770 for 14 days reduced hyperarousal, improved social interaction, and improved natural behaviors such as nesting and marble burying as well as dendritic spine morphology...
November 7, 2017: Scientific Reports
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