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https://www.readbyqxmd.com/read/28429670/expression-of-dominant-negative-k6w-ubiquitin-in-the-lens-epithelium-via-an-adenoviral-vector-delays-posterior-capsule-opacification-in-a-rabbit-model
#1
Xuan Bao, Min Hou, Ruiping Peng, Furong Luo, Mingxing Wu
PURPOSE: Ubiquitin is involved in cell proliferation and differentiation, and the objective of this study is to investigate the potential of dominant negative Ubiquitin (Ub) with a lysine to tryptophan mutation at the 6 position (K6W) through an adenoviral expression vector in the prevention of posterior capsule opacification (PCO) in a rabbit PCO model. METHODS: Recombinant dominant negative K6W-Ub adenovirus (RAd-K6W-Ub) with green fluorescent protein (RAd-K6W-Ub/GFP) and RAd-GFP viruses (control) were generated with QBI-HEK 293A cells...
March 31, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28402321/origin-of-high-strength-low-modulus-superelasticity-in-nanowire-shape-memory-alloy-composites
#2
Xudong Zhang, Hongxiang Zong, Lishan Cui, Xueling Fan, Xiangdong Ding, Jun Sun
An open question is the underlying mechanisms for a recent discovered nanocomposite, which composed of shape memory alloy (SMA) matrix with embedded metallic nanowires (NWs), demonstrating novel mechanical properties, such as large quasi-linear elastic strain, low Young's modulus and high yield strength. We use finite element simulations to investigate the interplay between the superelasticity of SMA matrix and the elastic-plastic deformation of embedded NWs. Our results show that stress transfer plays a dominated role in determining the quasi-linear behavior of the nanocomposite...
April 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28351971/trk-receptor-signaling-and-sensory-neuron-fate-are-perturbed-in-human-neuropathy-caused-by-gars-mutations
#3
James N Sleigh, John M Dawes, Steven J West, Na Wei, Emily L Spaulding, Adriana Gómez-Martín, Qian Zhang, Robert W Burgess, M Zameel Cader, Kevin Talbot, Xiang-Lei Yang, David L Bennett, Giampietro Schiavo
Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerve disorder caused by dominant, toxic, gain-of-function mutations in the widely expressed, housekeeping gene, GARS The mechanisms underlying selective nerve pathology in CMT2D remain unresolved, as does the cause of the mild-to-moderate sensory involvement that distinguishes CMT2D from the allelic disorder distal spinal muscular atrophy type V. To elucidate the mechanism responsible for the underlying afferent nerve pathology, we examined the sensory nervous system of CMT2D mice...
April 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28345153/the-functional-architectures-of-addition-and-subtraction-network-discovery-using-fmri-and-dcm
#4
Yang Yang, Ning Zhong, Karl Friston, Kazuyuki Imamura, Shengfu Lu, Mi Li, Haiyan Zhou, Haiyuan Wang, Kuncheng Li, Bin Hu
The neuronal mechanisms underlying arithmetic calculations are not well understood but the differences between mental addition and subtraction could be particularly revealing. Using fMRI and dynamic causal modeling (DCM), this study aimed to identify the distinct neuronal architectures engaged by the cognitive processes of simple addition and subtraction. Our results revealed significantly greater activation during subtraction in regions along the dorsal pathway, including the left inferior frontal gyrus (IFG), middle portion of dorsolateral prefrontal cortex (mDLPFC), and supplementary motor area (SMA), compared with addition...
March 27, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28278267/potentiation-of-motor-sub-networks-for-motor-control-but-not-working-memory-interaction-of-dacc-and-sma-revealed-by-resting-state-directed-functional-connectivity
#5
Vaibhav A Diwadkar, Avisa Asemi, Ashley Burgess, Asadur Chowdury, Steven L Bressler
The dorsal Anterior Cingulate Cortex (dACC) and the Supplementary Motor Area (SMA) are known to interact during motor coordination behavior. We previously discovered that the directional influences underlying this interaction in a visuo-motor coordination task are asymmetric, with the dACC→SMA influence being significantly greater than that in the reverse direction. To assess the specificity of this effect, here we undertook an analysis of the interaction between dACC and SMA in two distinct contexts. In addition to the motor coordination task, we also assessed these effects during a (n-back) working memory task...
2017: PloS One
https://www.readbyqxmd.com/read/28196890/dync1h1-mutations-associated-with-neurological-diseases-compromise-processivity-of-dynein-dynactin-cargo-adaptor-complexes
#6
Ha Thi Hoang, Max A Schlager, Andrew P Carter, Simon L Bullock
Mutations in the human DYNC1H1 gene are associated with neurological diseases. DYNC1H1 encodes the heavy chain of cytoplasmic dynein-1, a 1.4-MDa motor complex that traffics organelles, vesicles, and macromolecules toward microtubule minus ends. The effects of the DYNC1H1 mutations on dynein motility, and consequently their links to neuropathology, are not understood. Here, we address this issue using a recombinant expression system for human dynein coupled to single-molecule resolution in vitro motility assays...
February 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28155934/tailoring-the-schiff-base-photoswitching-a-non-adiabatic-molecular-dynamics-study-of-substituent-effect-on-excited-state-proton-transfer
#7
Joanna Jankowska, Mario Barbatti, Joanna Sadlej, Andrzej L Sobolewski
Small molecular systems exhibiting Excited State Intramolecular Proton Transfer (ESIPT) attract considerable attention due to their possible role as ultrafast, efficient, and photostable molecular photoswitches. Here, by means of static potential energy profile scan and on-the-fly non-adiabatic dynamics simulations we study the photodeactivation process of a minimal-chromophore aromatic Schiff base, salicylidene methylamine (SMA), and its two derivatives 6-cyano-salicylidene methylamine (6-CN-SMA) and 3-hydroxy-salicylidene methylamine (3-OH-SMA)...
February 3, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28089970/spatial-working-memory-impairment-in-patients-with-non-neuropsychiatric-systemic-lupus-erythematosus-a-blood-oxygen-level-dependent-functional-magnetic-resonance-imaging-study
#8
Chun-Min Zhu, Ye Ma, Lei Xie, Jin-Zhuang Huang, Zong-Bo Sun, Shou-Xing Duan, Zhi-Rong Lin, Jing-Jing Yin, Hong-Bo Le, Dan-Miao Sun, Wen-Can Xu, Shu-Hua Ma
OBJECTIVE: Using ethology and functional magnetic resonance imaging (fMRI) to explore mild cognitive dysfunction and spatial working memory (WM) impairment in patients with systemic lupus erythematosus (SLE) without overt neuropsychiatric symptoms (non-NPSLE) and to study whether any clinical biomarkers could serve as predictors of brain dysfunction in this disease. METHODS: Eighteen non-NPSLE patients and 18 matched subjects were all tested using the Montreal cognitive assessment scale test and scanned using blood-oxygen-level dependent fMRI while performing the n-back task to investigate the activation intensity of some cognition-related areas...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28065684/ighmbp2-related-clinical-and-genetic-features-in-a-cohort-of-chinese-charcot-marie-tooth-disease-type-2-patients
#9
Lei Liu, Xiaobo Li, Zhengmao Hu, Xiao Mao, Xiaohong Zi, Kun Xia, Beisha Tang, Ruxu Zhang
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. However, increasing AR-CMT2S cases without respiratory failure caused by IGHMBP2 mutations have been reported in the past two years. We detected IGHMBP2 mutations in a cohort of Chinese CMT2 patients using genes panel testing, polymerase chain reaction and Sanger sequencing. We found four families with autosomal recessive IGHMBP2 mutations, and the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inheritance...
February 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28045076/phf14-an-innate-inhibitor-against-the-progression-of-renal-fibrosis-following-folic-acid-induced-kidney-injury
#10
Bo Yang, Sixiu Chen, Ming Wu, Lin Zhang, Mengna Ruan, Xujiao Chen, Zhengjun Chen, Changlin Mei, Zhiguo Mao
PHF14 is a newly identified regulator of mesenchyme growth in embryonic tissues. Previous studies have shown that phf14-null mutants die just after birth due to interstitial tissue hyperplasia in major organs, including the kidneys. The aim of this study was to investigate PHF14 function in renal fibrosis. By studying the chronic kidney injury mouse model, we found that PHF14 was upregulated in fibrotic kidneys after renal insults induced by folic acid administration. Compared with wild-type mice, PHF14-null mice showed more severe renal fibrosis after pro-fibrotic stimuli...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28031292/protein-kinase-ck2-modulates-hsj1-function-through-phosphorylation-of-the-uim2-domain
#11
Daniele Ottaviani, Oriano Marin, Giorgio Arrigoni, Cinzia Franchin, Jordi Vilardell, Michele Sandre, Wenwen Li, David A Parfitt, Lorenzo A Pinna, Michael E Cheetham, Maria Ruzzene
HSJ1 (DNAJB2), a member of the DNAJ family of molecular chaperones, is a key player in neuronal proteostasis maintenance. It binds ubiquitylated proteins through its Ubiquitin Interacting Motifs (UIMs) and facilitates their delivery to the proteasome for degradation. Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages can resemble amyotrophic lateral sclerosis. HSJ1 overexpression can reduce aggregation of neurodegeneration-associated proteins in vitro and in vivo; however, the regulation of HSJ1 function is little understood...
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/27905588/phase-specific-dispersion-of-functional-nanoparticles-in-soft-nanocomposites-resulting-in-enhanced-electromagnetic-screening-ability-dominated-by-absorption
#12
Aishwarya V Menon, Giridhar Madras, Suryasarathi Bose
The effect of phase specific localisation of MWNTs (multiwalled carbon nanotubes) and magnetic FeNi (iron-nickel) alloy particles on bulk electrical conductivity and electromagnetic (EM) wave attenuation was investigated in biphasic co-continuous blends of PVDF/SMA (polyvinylidene fluoride/styrene maleic anhydride). It is envisaged that packing different functional nanoparticles in a given phase of a co-continuous blend can impede the charge transport phenomenon and the overall dispersion state. Therefore, phase specific localisation can facilitate the tuning of the functional properties in biphasic blends...
December 21, 2016: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/27866296/intranasal-curcumin-inhibits-pulmonary-fibrosis-by-modulating-matrix-metalloproteinase-9-mmp-9-in-ovalbumin-induced-chronic-asthma
#13
Preeti S Chauhan, D Dash, Rashmi Singh
Pulmonary fibrosis is associated with irreversible, or partially reversible, airflow obstruction and ultimately unresponsiveness to asthma therapies such as corticosteroids. Intranasal curcumin, an anti-inflammatory molecule, has been found effective in allergic asthma. To study the effect of intranasal curcumin on airway remodeling and fibrosis in murine model of chronic asthma, BALB/c mice were sensitized to ovalbumin (OVA) and exposed to OVA aerosol (2%) from day 21 (after sensitization) for 5 weeks (twice/week)...
February 2017: Inflammation
https://www.readbyqxmd.com/read/27807335/-clinical-features-of-a-genetically-identified-spinal-and-%C3%A2-bulbar-muscular-atrophy-pedigree
#14
Zhe Wang, Qihua Chen, Qiuxiang Li, Fangfang Bi
Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage...
October 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/27791295/vascular-architecture-as-a-diagnostic-marker-for-differentiation-of-world-health-organization-thymoma-subtypes-and-thymic-carcinoma
#15
Frederick Pfister, Hussam Hussain, Djeda Belharazem, Svenja Busch, Katja Simon-Keller, Dominic Becker, Eva Pfister, Ralf Rieker, Philipp Ströbel, Alexander Marx
AIMS: Thymomas and thymic squamous cell carcinomas (TSQCCs) are rare thymic epithelial tumours. Data on angiogenesis and vascular phenotype in these tumours are limited, and no study has taken histological World Health Organization (WHO) subtypes into account. The aim of this study was to compare vascularization, pericytes coverage and expression of angiogenic growth factors in different WHO-defined subtypes of thymoma METHODS AND RESULTS: Vascular density, diameter and architecture and expression of α-smooth muscle actin (SMA), platelet-derived growth factor (PDGF) receptor-β (PDGFRβ), vascular endothelial growth factor (VEGF) receptor 1 (VEGFR1) and VEGF receptor 2 (VEGFR2) were investigated in WHO type A, AB, B1, B2 and B3 thymomas and TSQCCs, by the use of immunostaining, quantitative morphometry, and tumour vessel isolation by trypsin digestion...
April 2017: Histopathology
https://www.readbyqxmd.com/read/27784775/expanding-the-phenotype-of-bicd2-mutations-toward-skeletal-muscle-involvement
#16
Andreas Unger, Gabriele Dekomien, Anne Güttsches, Thomas Dreps, Rudolf Kley, Martin Tegenthoff, Andreas Ferbert, Joachim Weis, Christoph Heyer, Wolfgang A Linke, Lilian Martinez-Carrera, Markus Storbeck, Brunhilde Wirth, Sabine Hoffjan, Matthias Vorgerd
OBJECTIVE: To expand the spectrum of bicaudal D, Drosophila, homologue 2 (BICD2) gene-related diseases, which so far includes autosomal dominant spinal muscular atrophy with lower extremity predominance 2 and hereditary spastic paraplegia due to mutations in the BICD2 gene. METHODS: We analyzed 2 independent German families with clinical, genetic, and muscle MRI studies. In both index patients, muscle histopathologic studies were performed. Transfection studies were carried out to analyze the functional consequences of the disease-causing mutations...
October 26, 2016: Neurology
https://www.readbyqxmd.com/read/27751653/recurrent-de-novo-bicd2-mutation-associated-with-arthrogryposis-multiplex-congenita-and-bilateral-perisylvian-polymicrogyria
#17
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
November 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27650816/charting-the-effects-of-tms-with-fmri-modulation-of-cortical-recruitment-within-the-distributed-network-supporting-semantic-control
#18
Glyn P Hallam, Carin Whitney, Mark Hymers, Andre D Gouws, Elizabeth Jefferies
Semantic memory comprises our knowledge of the meanings of words and objects but only some of this knowledge is relevant at any given time. Thus, semantic control processes are needed to focus retrieval on relevant information. Research on the neural basis of semantic control has strongly implicated left inferior frontal gyrus (LIFG) but recent work suggests that a wider network supports semantic control, including left posterior middle temporal gyrus (pMTG), right inferior frontal gyrus (RIFG) and pre-supplementary motor area (pre-SMA)...
December 2016: Neuropsychologia
https://www.readbyqxmd.com/read/27638987/joint-sogc-ccmg-opinion-for-reproductive-genetic-carrier-screening-an-update-for-all-canadian-providers-of-maternity-and-reproductive-healthcare-in-the-era-of-direct-to-consumer-testing
#19
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/27631878/mitochondrial-chchd-containing-proteins-physiologic-functions-and-link-with-neurodegenerative-diseases
#20
Zhi-Dong Zhou, Wuan-Ting Saw, Eng-King Tan
The coiled-coil-helix-coiled-coil-helix domain (CHCHD)-containing proteins are evolutionarily conserved nucleus-encoded small mitochondrial proteins with important functions. So far, nine members have been identified in this protein family. All CHCHD proteins have at least one functional coiled-coil-helix-coiled-coil-helix (CHCH) domain, which is stabilized by two pairs of disulfide bonds between two helices. CHCHD proteins have various important pathophysiological roles in mitochondria and other key cellular processes...
September 8, 2016: Molecular Neurobiology
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