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https://www.readbyqxmd.com/read/27933712/the-importance-of-mrna-structure-in-determining-the-pathogenicity-of-synonymous-and-non-synonymous-mutations-in-haemophilia
#1
N Hamasaki-Katagiri, B C Lin, J Simon, R C Hunt, T Schiller, E Russek-Cohen, A A Komar, H Bar, C Kimchi-Sarfaty
INTRODUCTION: Mutational analysis is commonly used to support the diagnosis and management of haemophilia. This has allowed for the generation of large mutation databases which provide unparalleled insight into genotype-phenotype relationships. Haemophilia is associated with inversions, deletions, insertions, nonsense and missense mutations. Both synonymous and non-synonymous mutations influence the base pairing of messenger RNA (mRNA), which can alter mRNA structure, cellular half-life and ribosome processivity/elongation...
December 9, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27933467/osteosarcoma-overview
#2
REVIEW
Brock A Lindsey, Justin E Markel, Eugenie S Kleinerman
Osteosarcoma (OS) is the most common primary malignancy of bone and patients with metastatic disease or recurrences continue to have very poor outcomes. Unfortunately, little prognostic improvement has been generated from the last 20 years of research and a new perspective is warranted. OS is extremely heterogeneous in both its origins and manifestations. Although multiple associations have been made between the development of osteosarcoma and race, gender, age, various genomic alterations, and exposure situations among others, the etiology remains unclear and controversial...
December 8, 2016: Rheumatology and Therapy
https://www.readbyqxmd.com/read/27932860/rebound-macular-edema-following-oral-acetazolamide-therapy-for-juvenile-x-linked-retinoschisis-in-an-italian-family
#3
Maria Silvana Galantuomo, Maurizio Fossarello, Alberto Cuccu, Roberta Farci, Markus N Preising, Birgit Lorenz, Pietro Emanuele Napoli
BACKGROUND: Juvenile X-linked retinoschisis (RS1, OMIM: 312700) is a hereditary vitreoretinal dystrophy characterized by bilateral foveal schisis and, in half of the patients, splitting through the nerve fiber layer in the peripheral retina. In the first decade of life, patients usually develop a decrease in visual acuity. Long-term visual outcomes can be poor due to the limited number of known successful treatments. PURPOSE: The purposes of this study were to present, for the first time, a p...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27932538/investigation-of-solid-particles-in-the-mainstream-aerosol-of-the-tobacco-heating-system-ths2-2-and-mainstream-smoke-of-a-3r4f-reference-cigarette
#4
P Pratte, S Cosandey, C Goujon Ginglinger
Combustion of biomass produces solid carbon particles, whereas their generation is highly unlikely when a biomass is heated instead of being burnt. For instance, in the Tobacco Heating System (THS2.2), the tobacco is heated below 350°C and no combustion takes place. Consequently, at this relatively low temperature, released compounds should form an aerosol consisting of suspended liquid droplets via a homogeneous nucleation process. To verify this assumption, mainstream aerosol generated by the heat-not-burn product, THS2...
December 8, 2016: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/27932092/quality-assessment-of-postmortem-tissue-donors-in-a-university-hospital-detection-and-generation-tissue-indicators
#5
R Roque, C Rodriguez-Villar, A Ruiz, D Paredes, R Gelpi, X Garcia, F Vizcaíno, S Saavedra, S Rodríguez, M Quijada, M Bohils, R Adalia
BACKGROUND: Defining quality assessment and measurement tools in the area of tissue donation should be considered to be one of the most important strategies for developing health centers. The aim of this project was to identify, define, and analyze a set of indicators to assess the most important steps in the tissue donor detection and generation processes. METHODS: A prospective, descriptive, and comparative study of all potential tissue donors (TDs) detected and generated in a university hospital was performed...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27930314/direct-evidence-of-interaction-induced-dirac-cones-in-a-monolayer-silicene-ag-111-system
#6
Ya Feng, Defa Liu, Baojie Feng, Xu Liu, Lin Zhao, Zhuojin Xie, Yan Liu, Aiji Liang, Cheng Hu, Yong Hu, Shaolong He, Guodong Liu, Jun Zhang, Chuangtian Chen, Zuyan Xu, Lan Chen, Kehui Wu, Yu-Tzu Liu, Hsin Lin, Zhi-Quan Huang, Chia-Hsiu Hsu, Feng-Chuan Chuang, Arun Bansil, X J Zhou
Silicene, analogous to graphene, is a one-atom-thick 2D crystal of silicon, which is expected to share many of the remarkable properties of graphene. The buckled honeycomb structure of silicene, along with enhanced spin-orbit coupling, endows silicene with considerable advantages over graphene in that the spin-split states in silicene are tunable with external fields. Although the low-energy Dirac cone states lie at the heart of all novel quantum phenomena in a pristine sheet of silicene, a hotly debated question is whether these key states can survive when silicene is grown or supported on a substrate...
December 7, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27929749/critical-role-of-x-box-binding-protein-1-in-nadph-oxidase-4-triggered-cardiac-hypertrophy-is-mediated-by-receptor-interacting-protein-kinase-1
#7
Li Chen, Mingyue Zhao, Junli Li, Yu Wang, Qinxue Bao, Siyuan Wu, Xueqin Deng, Xiaoju Tang, Wenchao Wu, Xiaojing Liu
NADPH oxidase 4 (NOX4) and the NOX4-related redox signaling are implicated in cardiac hypertrophy. NOX4 is interrelated with endoplasmic reticulum stress (ERS). Spliced X-box binding protein 1 (Xbp1s) is a key mediator of ERS while its role in cardiac hypertrophy is still poorly understood. Recently, receptor interacting protein kinase 1(RIPK1) has been increasingly reported to be associated with ERS. Therefore, we aimed to test the hypothesis that Xbp1s mediates NOX4-triggered cardiac hypertrophy via RIPK1 signaling...
December 8, 2016: Cell Cycle
https://www.readbyqxmd.com/read/27929510/deriving-detector-specific-correction-factors-for-rectangular-small-fields-using-a-scintillator-detector
#8
Yujiao Qin, Hualiang Zhong, Ning Wen, Karen Snyder, Yimei Huang, Indrin J Chetty
The goal of this study was to investigate small field output factors (OFs) for flat-tening filter-free (FFF) beams on a dedicated stereotactic linear accelerator-based system. From this data, the collimator exchange effect was quantified, and detector-specific correction factors were generated. Output factors for 16 jaw-collimated small fields (from 0.5 to 2 cm) were measured using five different detectors including an ion chamber (CC01), a stereotactic field diode (SFD), a diode detector (Edge), Gafchromic film (EBT3), and a plastic scintillator detector (PSD, W1)...
November 8, 2016: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/27929036/optimal-generation-of-spatially-coherent-soft-x-ray-isolated-attosecond-pulses-in-a-gas-filled-waveguide-using-two-color-synthesized-laser-pulses
#9
Cheng Jin, Kyung-Han Hong, C D Lin
We numerically demonstrate the generation of intense, low-divergence soft X-ray isolated attosecond pulses in a gas-filled hollow waveguide using synthesized few-cycle two-color laser waveforms. The waveform is a superposition of a fundamental and its second harmonic optimized such that highest harmonic yields are emitted from each atom. We then optimize the gas pressure and the length and radius of the waveguide such that bright coherent high-order harmonics with angular divergence smaller than 1 mrad are generated, for photon energy from the extreme ultraviolet to soft X-rays...
December 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27928893/outsmarted-by-nooptropics-an-investigation-into-the-thermal-degradation-of-modafinil-modafinic-acid-adrafinil-crl-40-940-and-crl-40-941-in-the-gc-injector-formation-of-1-1-2-2-tetraphenylethane-and-its-tetra-fluoro-analog
#10
Geraldine Dowling, Pierce V Kavanagh, Brian Talbot, John O'Brien, Gary Hessman, Gavin McLaughlin, Brendan Twamley, Simon D Brandt
2-[(Diphenylmethyl)sulfinyl]acetamide (modafinil) is commonly prescribed for the treatment of narcolepsy and increasing popularity and off-label use as a cognitive enhancer resulted in a reputation as an intelligence boosting 'wonder drug'. Common alternatives available from online shops and other retail outlets include 2-[(diphenylmethyl)sulfinyl]-N-hydroxyacetamide (adrafinil), 2-{[bis(4-fluorophenyl)methyl]sulfinyl}acetamide (CRL-40,940), 2-{[bis(4-fluorophenyl)methyl]sulfinyl}-N-hydroxyacetamide (CRL-40,941) and N-methyl-4,4-difluoro-modafinil (modafiendz), respectively...
December 8, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27927724/myeloid-bmal1-deletion-increases-monocyte-recruitment-and-worsens-atherosclerosis
#11
Mingyu Huo, Yuhong Huang, Dan Qu, Hongsong Zhang, Wing Tak Wong, Ajay Chawla, Yu Huang, Xiao Yu Tian
BMAL1, the nonredundant transcription factor in the core molecular clock, has been implicated in cardiometabolic diseases in mice and humans. BMAL1 controls the cyclic trafficking of Ly6c(hi) monocytes to sites of acute inflammation. Myeloid deficiency of Bmal1 also worsens chronic inflammation in diet-induced obesity. We studied whether myeloid Bmal1 deletion promotes atherosclerosis by enhancing monocyte recruitment to atherosclerotic lesion. By generating Bmal1(FloxP/FloxP);LysM(Cre) mice on the Apoe(-/-) background, we showed that Bmal1 deletion in myeloid cells increased the size of atherosclerotic lesion...
December 7, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27927242/sudden-death-due-to-paralysis-and-synaptic-and-behavioral-deficits-when-hip14-zdhhc17-is-deleted-in-adult-mice
#12
Shaun S Sanders, Matthew P Parsons, Katherine K N Mui, Amber L Southwell, Sonia Franciosi, Daphne Cheung, Sabine Waltl, Lynn A Raymond, Michael R Hayden
BACKGROUND: Palmitoylation, the addition of palmitate to proteins by palmitoyl acyltransferases (PATs), is an important regulator of synaptic protein localization and function. Many palmitoylated proteins and PATs have been implicated in neuropsychiatric diseases, including Huntington disease, schizophrenia, amyotrophic lateral sclerosis, Alzheimer disease, and X-linked intellectual disability. HIP14/DHHC17 is the most conserved PAT that palmitoylates many synaptic proteins. Hip14 hypomorphic mice have behavioral and synaptic deficits...
December 7, 2016: BMC Biology
https://www.readbyqxmd.com/read/27925311/the-chemistry-of-a-non-interacting-vicinal-frustrated-phosphane-borane-lewis-pair
#13
Lisa-Maria Elmer, Gerald Kehr, Constantin G Daniliuc, Melanie Siedow, Hellmut Eckert, Matthias Tesch, Armido Studer, Kamille Williams, Timothy H Warren, Gerhard Erker
The dimesitylphosphinocyclopentene/HB(C6 F5 )2 -derived vicinal trans-1,2-P/B frustrated Lewis pair (FLP) 4 shows no direct phosphane-borane interaction. Toward some reagents it behaves similar to an intermolecular FLP; it cleaves dihydrogen, deprotonates terminal alkynes, and adds to organic carbonyl compounds including CO2 . It shows typical intramolecular FLP reaction modes (cooperative 1,1-additions) to mesityl azide, to carbon monoxide, and to NO. The latter reaction yields a persistent P/B FLPNO nitroxide radical, which undergoes H-atom abstraction reactions...
December 7, 2016: Chemistry: a European Journal
https://www.readbyqxmd.com/read/27925189/hbx-drives-alpha-fetoprotein-expression-to-promote-initiation-of-liver-cancer-stem-cells-through-activating-pi3k-akt-signal-pathway
#14
Mingyue Zhu, Wei Li, Yan Lu, Xu Dong, Bo Lin, Yi Chen, Xueer Zhang, Junli Guo, Mengsen Li
Hepatitis B virus (HBV)-X protein (HBx) plays critical role in inducing the malignant transformation of liver cells. Alpha fetoprotein (AFP) expression is closely related to hepatocarcinogenesis. We report that Oct4, Klf4, Sox2 and c-myc expression positively associated with AFP(+)/HBV(+) hepatocellular carcinoma(HCC) tissues, and the expression of the stemness markers CD44, CD133 and EpCAM was significantly higher in AFP(+)/HBV(+) HCC tissues compared to normal liver tissues or AFP(-)/HBV(-) HCC tissues. AFP expression turned on prior to expression of Oct4, Klf4, Sox2 and c-myc, and the stemness markers CD44, CD133 and EpCAM in the normal human liver L-02 cell line or CHL cell lines upon transfection with MCV-HBx vectors...
December 7, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27924929/fast-interfacial-charge-transfer-in-%C3%AE-fe2o3-%C3%AE-c%C3%AE-fevo4-x-%C3%AE-cx-%C3%AE-c-bulk-heterojunctions-with-controllable-phase-content
#15
Chengcheng Zhao, Guoqiang Tan, Wei Yang, Chi Xu, Ting Liu, Yuning Su, Huijun Ren, Ao Xia
The novelties in this paper are embodied in the fast interfacial charge transfer in α-Fe2O3-δCδ/FeVO4-x+δCx-δ@C bulk heterojunctions with controllable phase compositions. The carbon source-glucose plays an important role as the connecting bridge between the micelles in the solution, forming interfacial C-O, C-O-Fe and O-Fe-C bonds through dehydration and polymerization reactions. Then the extra VO3(-) around the FeVO4 colloidal particles can react with unstable Fe(OH)3, resulting the phase transformation from α-Fe2O3 (47...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27923503/selection-of-active-phase-of-mno2-for-catalytic-ozonation-of-4-nitrophenol
#16
Faheem Nawaz, Hongbin Cao, Yongbing Xie, Jiadong Xiao, Yue Chen, Zahid Ali Ghazi
Catalytic ozonation is a highly effective method in wastewater treatment, and MnO2 materials are widely recognized as active heterogeneous catalysts in this process. Many works reported the progress in active MnO2 synthesis, but the active phase is rarely systematically studied. In this paper, all six phases of MnO2 (α-, β-, δ-, γ-, λ- and ε-) were synthesized by facile methods. Their catalytic activities in ozonation of 4-nitrophenol (4-NP) were evaluated and correlated with the physicochemical properties obtained from X-ray Diffraction (XRD), transmission electron microscopy (TEM), physical adsorption and cyclic voltammetry (CV) analysis...
December 3, 2016: Chemosphere
https://www.readbyqxmd.com/read/27922685/5%C3%A2-bromo%C3%A2-3%C3%A2-3%C3%A2-hydroxyprop%C3%A2-1%C3%A2-ynyl-%C3%A2-2h%C3%A2-pyran%C3%A2-2%C3%A2-one-induces-apoptosis-in-t24-human-bladder-cancer-cells-through-mitochondria-dependent-signaling-pathways
#17
Guo-Qiang Yu, Zhong-Ling Dou, Zhao-Hui Jia
The present study was performed to investigate the effect of 5-bromo-3-(3-hydroxyprop-1-ynyl)-2H-pyran-2-one (BHP) on the induction of apoptosis and cell cycle arrest in T24 human bladder carcinoma cells. An MTT assay was used to investigate the inhibition of cell proliferation. Flow cytometry was used to observe alterations in the cell cycle, generation of reactive oxygen species (ROS), alterations in mitochondrial membrane potential (MMP) and induction of apoptosis in the T24 cells following BHP treatment...
December 6, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27922106/in-situ-one-step-synthesis-of-carbon-encapsulated-naked-magnetic-metal-nanoparticles-conducted-without-additional-reductants-and-agents
#18
Jun Kang, Yeonwon Kim, Hye-Min Kim, Xiulan Hu, Nagahiro Saito, Jae-Hyuk Choi, Myeong-Hoon Lee
C-encapsulated highly pure Ni, Co, and Fe magnetic nanoparticles (MNPs/C) were synthesized by an innovative one-step in-situ plasma in liquid method (solution plasma processing, SPP) without any additional reductants, agents, or treatment. Successful encapsulation of MNPs was demonstrated by using inductively coupled plasma-atomic emission spectrometry and cyclic voltammetry techniques. The obtained X-ray diffraction patterns and transmission electron microscopy images corresponded to MNPs with average diameters of 5 nm and good crystalline structure...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27920779/functional-versatility-of-agy-serine-codons-in-immunoglobulin-variable-region-genes
#19
Thiago Detanico, Matthew Phillips, Lawrence J Wysocki
In systemic autoimmunity, autoantibodies directed against nuclear antigens (Ags) often arise by somatic hypermutation (SHM) that converts AGT and AGC (AGY) Ser codons into Arg codons. This can occur by three different single-base changes. Curiously, AGY Ser codons are far more abundant in complementarity-determining regions (CDRs) of IgV-region genes than expected for random codon use or from species-specific codon frequency data. CDR AGY codons are also more abundant than TCN Ser codons. We show that these trends hold even in cartilaginous fishes...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27920633/lesch-nyhan-syndrome-models-theories-and-therapies
#20
REVIEW
Scott Bell, Ilaria Kolobova, Liam Crapper, Carl Ernst
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease...
November 2016: Molecular Syndromology
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