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https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#1
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28611571/exosomes-and-homeostatic-synaptic-plasticity-are-linked-to-each-other-and-to-huntington-s-parkinson-s-and-other-neurodegenerative-diseases-by-database-enabled-analyses-of-comprehensively-curated-datasets
#2
James K T Wang, Peter Langfelder, Steve Horvath, Michael J Palazzolo
Huntington's disease (HD) is a progressive and autosomal dominant neurodegeneration caused by CAG expansion in the huntingtin gene (HTT), but the pathophysiological mechanism of mutant HTT (mHTT) remains unclear. To study HD using systems biological methodologies on all published data, we undertook the first comprehensive curation of two key PubMed HD datasets: perturbation genes that impact mHTT-driven endpoints and therefore are putatively linked causally to pathogenic mechanisms, and the protein interactome of HTT that reflects its biology...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28607608/clinical-features-pathological-findings-and-treatment-of-recurrent-dermatofibrosarcoma-protuberans
#3
Yanan Li, Chuan Wang, Bo Xiang, Siyuan Chen, Li Li, Yi Ji
Dermatofibrosarcoma protuberans (DESP) is a relatively rare and low-grade tumor of the skin and soft tissue. We review the clinical features, pathological findings and management of recurrent DESP with the aim to improve our understanding of this rare tumor. Fifty-seven patients were diagnosed with recurrent DFSP. The mean age at the presentation of DFSP was 30.9 years. The mean age at diagnosis of DFSP was 40.2 years. Chest wall was the dominant location. The histopathological diagnosis was ordinary DFSP (O-DFSP) in 46 cases and fibrosarcomatous DFSP (FS-DFSP) in 11 cases...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28606400/autosomal-dominant-distal-myopathy-due-to-a-novel-acta1-mutation
#4
Teerin Liewluck, Eric J Sorenson, Magdalena A Walkiewicz, Kandelaria M Rumilla, Margherita Milone
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings...
May 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28594869/compound-heterozygous-mutations-in-glycyl-trna-synthetase-gars-cause-mitochondrial-respiratory-chain-dysfunction
#5
Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis...
2017: PloS One
https://www.readbyqxmd.com/read/28554554/expanding-the-phenotypic-spectrum-associated-with-mutations-of-dync1h1
#6
Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing, Gianina Ravenscroft
Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy. Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28553860/frontal-aslant-tract-projections-to-the-inferior-frontal-gyrus
#7
Tomasz Szmuda, Marianna Rogowska, Paweł Słoniewski, Ahmed Abuhaimed, Marta Szmuda, Janusz Springer, Agnieszka Sabisz, Jarosław Dzierżanowski, Anna Starzyńska, Tomasz Przewoźny, Andrzej Skorek
Frontal aslant tract (FAT) is a white matter bundle connecting the pre-supplementary motor area (pre-SMA) and the supplementary motor area (SMA) with the inferior frontal gyrus (IFG). The purpose of the present study was to evaluate the anatomical variability of FAT. Total number of fibers and the lateralisation index (LI) were calculated. We attempted to find factors contributing to the diversity of FAT regarding IFG terminations to the pars opercularis (IFG-Op) and to the pars triangularis (IFG-Tr). Magnetic resonance imaging (MRI) of adult patients with diffusion tensor imaging (DTI) with total number of 98 hemispheres composed a cohort...
May 29, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28551318/anatomical-and-functional-correlates-of-cortical-motor-threshold-of-the-dominant-hand
#8
Charlotte Rosso, Vincent Perlbarg, Romain Valabregue, Mickaël Obadia, Claire Kemlin-Méchin, Eric Moulton, Sara Leder, Sabine Meunier, Jean-Charles Lamy
BACKGROUND: Resting Motor threshold (rMT) provides information about cortical motor excitability. Interestingly, the influences of the structural or functional variability of the motor system on the rMT inter-individual variability have been poorly investigated. OBJECTIVE/HYPOTHESIS: To investigate relationships between rMT and measures of brain structures and function of the motor system. The hypothesis is that cortical excitability not only depends on the primary motor cortex (M1) but also on the integration of information originating from its vicinity such as premotor (PMd and SMA) and post-central (S1) cortices...
May 17, 2017: Brain Stimulation
https://www.readbyqxmd.com/read/28545163/coccygeal-body-revisited-an-immunohistochemical-study-using-donated-elderly-cadavers
#9
Zhe Wu Jin, Kwang Ho Cho, Hyung Suk Jang, Gen Murakami, Jose Francisco Rodríguez-Vázquez, Masahito Yamamoto, Shin-Ichi Abe
To describe the normal anatomy and histology of the adult coccygeal body (CB) and to discuss about the origin and function. Using immunohistochemistry, we examined 29 CBs found in 32 elderly donated cadavers without macroscopic pathology in the pelvis. The CB was usually located in or near the anococcygeal ligaments. It was almost always composed of multiple masses or nodules of round glomus cells (smooth muscle actin, or SMA++). However, the CB sometimes contained abundant dilated veins with scattered glomus cells...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28542189/mir-277-4989-regulate-transcriptional-landscape-during-juvenile-to-adult-transition-in-the-parasitic-helminth-schistosoma-mansoni
#10
Anna V Protasio, Stijn van Dongen, Julie Collins, Leonor Quintais, Diogo M Ribeiro, Florian Sessler, Martin Hunt, Gabriel Rinaldi, James J Collins, Anton J Enright, Matthew Berriman
Schistosomes are parasitic helminths that cause schistosomiasis, a disease affecting circa 200 million people, primarily in underprivileged regions of the world. Schistosoma mansoni is the most experimentally tractable schistosome species due to its ease of propagation in the laboratory and the high quality of its genome assembly and annotation. Although there is growing interest in microRNAs (miRNAs) in trematodes, little is known about the role these molecules play in the context of developmental processes...
May 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28532900/combinatorial-screening-of-3d-biomaterial-properties-that-promote-myofibrogenesis-for-mesenchymal-stromal-cell-based-heart-valve-tissue-engineering
#11
Jenna Usprech, David A Romero, Cristina H Amon, Craig A Simmons
The physical and chemical properties of a biomaterial integrate with soluble cues in the cell microenvironment to direct cell fate and function. Predictable biomaterial-based control of integrated cell responses has been investigated with two-dimensional (2D) screening platforms, but integrated responses in 3D have largely not been explored systematically. To address this need, we developed a screening platform using polyethylene glycol norbornene (PEG-NB) as a model biomaterial with which the polymer wt% (to control elastic modulus) and adhesion peptide types (RGD, DGEA, YIGSR) and densities could be controlled independently and combinatorially in arrays of 3D hydrogels...
May 19, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28529481/topical-ophthalmic-formulation-of-trichostatin-a-and-surr9-c84a-for-quick-recovery-post-alkali-burn-of-corneal-haze
#12
Kislay Roy, Chun Hei Antonio Cheung, Rupinder K Kanwar, Rajat Sandhir, Jagat R Kanwar
Alkali burn injury is a true ocular emergency of the conjunctiva and cornea that requires immediate precision. Lack of an immediate therapy can lead to a substantial damage in the ocular surface and anterior segment further causing visual impairment and disfigurement. We explored the regenerative capability of dominant negative survivin protein (SurR9-C84A) and histone deacetylase inhibitor trichostatin-A (TSA) in vivo, in a rat alkali burn model. A topical insult in rat eyes with NaOH led to degradation of the conjunctival and corneal epithelium...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28525955/imaging-and-manipulating-energy-transfer-among-quantum-dots-at-individual-dot-resolution
#13
Duc Nguyen, Huy A Nguyen, Joseph W Lyding, Martin Gruebele
Many processes of interest in quantum dots involve charge or energy transfer from one dot to another. Energy transfer in films of quantum dots as well as between linked quantum dots has been demonstrated by luminescence shift, and the ultrafast time-dependence of energy transfer processes has been resolved. Bandgap variation among dots (energy disorder) and dot separation are known to play an important role in how energy diffuses. Thus, it would be very useful if energy transfer could be visualized directly on a dot-by-dot basis among small clusters or within films of quantum dots...
May 30, 2017: ACS Nano
https://www.readbyqxmd.com/read/28507535/bioreactor-scalability-laboratory-scale-bioreactor-design-influences-performance-ecology-and-community-physiology-in-expanded-granular-sludge-bed-bioreactors
#14
Stephanie Connelly, Seung G Shin, Robert J Dillon, Umer Z Ijaz, Christopher Quince, William T Sloan, Gavin Collins
Studies investigating the feasibility of new, or improved, biotechnologies, such as wastewater treatment digesters, inevitably start with laboratory-scale trials. However, it is rarely determined whether laboratory-scale results reflect full-scale performance or microbial ecology. The Expanded Granular Sludge Bed (EGSB) bioreactor, which is a high-rate anaerobic digester configuration, was used as a model to address that knowledge gap in this study. Two laboratory-scale idealizations of the EGSB-a one-dimensional and a three- dimensional scale-down of a full-scale design-were built and operated in triplicate under near-identical conditions to a full-scale EGSB...
2017: Frontiers in Microbiology
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
#15
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
#16
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
#17
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
#18
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...
June 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
#19
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
#20
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
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