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https://www.readbyqxmd.com/read/28637276/repetitive-element-transcripts-are-elevated-in-the-brain-of-c9orf72-als-ftld-patients
#1
Mercedes Prudencio, Patrick K Gonzales, Casey N Cook, Tania F Gendron, Lillian M Daughrity, Yuping Song, Mark T W Ebbert, Marka van Blitterswijk, Yong-Jie Zhang, Karen Jansen-West, Matthew C Baker, Michael DeTure, Rosa Rademakers, Kevin B Boylan, Dennis W Dickson, Leonard Petrucelli, Christopher D Link
Significant transcriptome alterations are detected in the brain of patients with amyotrophic lateral sclerosis (ALS), including carriers of the C9orf72 repeat expansion and C9orf72-negative sporadic cases. Recently, the expression of repetitive element transcripts has been associated with toxicity and, while increased repetitive element expression has been observed in several neurodegenerative diseases, little is known about their contribution to ALS. To assess whether aberrant expression of repetitive element sequences are observed in ALS, we analyzed RNA sequencing data from C9orf72-positive and sporadic ALS cases, as well as healthy controls...
June 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28636979/exosomes-in-diagnosis-and-therapy-of-prostate-cancer
#2
REVIEW
Jun Pan, Meng Ding, Kai Xu, Chunhua Yang, Li-Jun Mao
Exosomes are small vesicular bodies released by a variety of cells. Exosomes contain miRNAs, mRNAs and proteins with the potential to regulate signaling pathways in recipient cells. Exosomes deliver nucleic acids and proteins to mediate the communication between cancer cells and stroma cells. In this review, we summarize recent progress in our understanding of the role of exosomes in prostate cancer. The tumorigenesis, metastasis and drug resistance of prostate cancer are associated with the cargos of exosomes such as miRNAs, lncRNAs and proteins...
June 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28636882/foxn1-italian-founder-mutation-in-indian-family-implications-in-prenatal-diagnosis
#3
Akella Radha Rama Devi, Nagesh Narayan Panday, Shaik Mohammad Naushad
The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28636844/clonal-hematopoiesis-and-risk-of-atherosclerotic-cardiovascular-disease
#4
Siddhartha Jaiswal, Pradeep Natarajan, Alexander J Silver, Christopher J Gibson, Alexander G Bick, Eugenia Shvartz, Marie McConkey, Namrata Gupta, Stacey Gabriel, Diego Ardissino, Usman Baber, Roxana Mehran, Valentin Fuster, John Danesh, Philippe Frossard, Danish Saleheen, Olle Melander, Galina K Sukhova, Donna Neuberg, Peter Libby, Sekar Kathiresan, Benjamin L Ebert
Background Clonal hematopoiesis of indeterminate potential (CHIP), which is defined as the presence of an expanded somatic blood-cell clone in persons without other hematologic abnormalities, is common among older persons and is associated with an increased risk of hematologic cancer. We previously found preliminary evidence for an association between CHIP and atherosclerotic cardiovascular disease, but the nature of this association was unclear. Methods We used whole-exome sequencing to detect the presence of CHIP in peripheral-blood cells and associated such presence with coronary heart disease using samples from four case-control studies that together enrolled 4726 participants with coronary heart disease and 3529 controls...
June 21, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28636816/impacts-of-the-mitochondrial-genome-on-the-relationship-of-long-term-ambient-fine-particle-exposure-with-blood-dna-methylation-age
#5
Jamaji Nwanaji-Enwerem, Elena Colicino, Lingzhen Dai, Akin Cayir, Marco Sanchez-Guerra, Hannah E Laue, Vy T Nguyen, Qian Di, Allan Just, Lifang Hou, Pantel Vokonas, Brent A Coull, Marc Weisskopf, Andrea Baccarelli, Joel Schwartz
The mitochondrial genome has long been implicated in age-related disease, but no studies have examined its role in the relationship of long-term fine particle (PM2.5) exposure and DNA methylation age (DNAm-age) - a novel measure of biological age. In this analysis based on 940 observations between 2000 and 2011 from 552 Normative Aging Study participants, we determined the roles of mitochondrial DNA haplogroup variation and mitochondrial genome abundance in the relationship of PM2.5 with DNAm-age. We used the GEOS-chem transport model to estimate address-specific, one-year PM2...
June 21, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28636798/a-ccpe-based-xenon-biosensor-for-magnetic-resonance-imaging-of-claudin-expressing-cells
#6
Anna Piontek, Christopher Witte, Honor May Rose, Miriam Eichner, Jonas Protze, Gerd Krause, Jörg Piontek, Leif Schröder
The majority of malignant tumors originate from epithelial cells, and many of them are characterized by an overexpression of claudins (Cldns) and their mislocalization out of tight junctions. We utilized the C-terminal claudin-binding domain of Clostridium perfringens enterotoxin (cCPE), with its high affinity to specific members of the claudin family, as the targeting unit for a claudin-sensitive cancer biosensor. To overcome the poor sensitivity of conventional relaxivity-based magnetic resonance imaging (MRI) contrast agents, we utilized the superior sensitivity of xenon Hyper-CEST biosensors...
June 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28636561/il-18-polymorphisms-contribute-to-hepatitis-b-virus-related-cirrhosis-and-hepatocellular-carcinoma-susceptibility-in-chinese-population-a-case-control-study
#7
Zhi-Jun Dai, Xing-Han Liu, Meng Wang, Yan Guo, Wenge Zhu, Xiao Li, Shuai Lin, Tian Tian, Kang Liu, Yi Zheng, Peng Xu, Tianbo Jin, Xiaopeng Li
IL-18 polymorphisms influence the transcriptional activity of the IL-18 gene and associated with various diseases. However, their relationships with hepatitis B virus-related liver diseases had not reached a consensus. So we conducted this case-control study with a view to clarifying the association. We included four groups: healthy controls, chronic hepatitis B virus (CHB) carriers, liver cirrhosis (LC) and hepatocellular carcinoma (HCC) groups with each group of 250 persons. Odd ratios (ORs) and 95% confidence intervals (95%CIs) with or without adjustment were calculated...
June 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28636398/ultrafast-carrier-trapping-in-thick-shell-colloidal-quantum-dots
#8
Ankit Jain, Oleksandr Voznyy, Marek Korkusinski, Pawel Hawrylak, Edward H Sargent
It has previously been found that Auger processes can lead to femtosec- ond carrier trapping in quantum dots, limiting their performance in opto- electronic applications that rely on radiative recombination. Here, using atomistic simulations, we investigate whether a shell can protect carriers from Auger-assisted trapping. For these studies we investigate CdSe/CdS core-shell quantum dots having total diameters reaching up to 10 nm. We find trapping lifetimes as fast as 1 ps for 2 nm shells, and we report that shells as thick as 6 nm are required to suppress trapping fully...
June 21, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28636388/correlation-between-photoluminescence-and-carrier-transport-and-a-simple-in-situ-passivation-method-for-high-bandgap-hybrid-perovskites
#9
Ryan J Stoddard, Felix T Eickemeyer, John K Katahara, Hugh W Hillhouse
High bandgap mixed-halide hybrid perovskites have higher open-circuit voltage deficits and lower carrier diffusion lengths than their lower-bandgap counterparts. We have developed a Ligand-Assisted Crystallization (LAC) technique that introduces additives in-situ during the solvent wash and developed a new method to dynamically measure the absolute-intensity steady-state photoluminescence and the mean carrier diffusion length simultaneously. The measurements reveal four distinct regimes of material changes and show that photoluminescence brightening often coincides with losses in carrier transport, such as in degradation or phase segregation...
June 21, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28636387/novel-kiteplatin-pyrophosphate-derivatives-with-improved-efficacy
#10
Alessandra Curci, Valentina Gandin, Cristina Marzano, James D Hoeschele, Giovanni Natile, Nicola Margiotta
Two new Pt(II) derivatives of kiteplatin ([PtCl2(cis-1,4-DACH)]) with pyrophosphate as carrier ligand, one mononuclear (1) and one dinuclear (2), were synthesized with the aim of potentiating the efficacy of kiteplatin. Complex 1 resulted to be remarkably stable at physiological pH, but it undergoes a fast hydrolysis reaction at acidic pH releasing free pyrophosphate and (aquated) kiteplatin. The dinuclear compound 2 resulted to be less stable than 1 at both neutral and acidic pH forming 1 and (aquated) kiteplatin as first step...
June 21, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/28636315/fabrication-of-hierarchical-macroporous-biocompatible-scaffolds-by-combining-pickering-high-internal-phase-emulsion-templates-with-three-dimensional-printing
#11
Ting Yang, Yang Hu, Chaoyang Wang, Bernard P Binks
Biocompatible and biodegradable porous scaffolds with adjustable pore structure have aroused increasing interest in bone tissue engineering. Here, we report a facile method to fabricate hierarchical macroporous biocompatible (HmPB) scaffolds by combining Pickering high internal phase emulsion (HIPE) templates with three-dimensional (3D) printing. HmPB scaffolds composed of a polymer matrix of poly(L-lactic acid), PLLA, and poly(ε-caprolactone), PCL, are readily fabricated by solvent evaporation of 3D printed Pickering HIPEs which are stabilized by hydrophobically modified silica nanoparticles (h-SiO2)...
June 21, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28636031/attaining-resistive-switching-characteristics-and-selector-properties-by-varying-forming-polarities-in-a-single-hfo2-based-rram-device-with-a-vanadium-electrode
#12
Chih-Yang Lin, Po-Hsun Chen, Ting-Chang Chang, Kuan-Chang Chang, Sheng-Dong Zhang, Tsung-Ming Tsai, Chih-Hung Pan, Min-Chen Chen, Yu-Ting Su, Yi-Ting Tseng, Yao-Feng Chang, Ying-Chen Chen, Hui-Chun Huang, Simon M Sze
This study proposes a method for a HfO2-based device to exhibit both resistive switching (RS) characteristics as resistive random access memory (RRAM) and selector characteristics by introducing vanadium (V) as the top electrode. This simple V/HfO2/TiN structure can demonstrate these two different properties depending on forming polarities. The RS mechanism is activated by a positive forming bias. In contrast, the selector property is induced by a negative forming bias. The material analyses firstly confirm the existence of V in the top electrode...
June 21, 2017: Nanoscale
https://www.readbyqxmd.com/read/28635953/rare-rnf213-variants-in-the-c-terminal-region-encompassing-the-ring-finger-domain-are-associated-with-moyamoya-angiopathy-in-caucasians
#13
Stéphanie Guey, Markus Kraemer, Dominique Hervé, Thomas Ludwig, Manoëlle Kossorotoff, Françoise Bergametti, Jan Claudius Schwitalla, Simone Choi, Lucile Broseus, Isabelle Callebaut, Emmanuelle Genin, Elisabeth Tournier-Lasserve
Moyamoya angiopathy (MMA) is a cerebral angiopathy affecting the terminal part of internal carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a protein containing a RING-finger and two AAA+ domains. This variant has never been detected in Caucasian MMA patients, but several rare RNF213 variants have been reported in Caucasian cases. Using a collapsing test based on exome data from 68 European MMA probands and 573 ethnically matched controls, we showed a significant association between rare missense RNF213 variants and MMA in European patients (odds ratio (OR)=2...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635949/non-coding-variants-contribute-to-the-clinical-heterogeneity-of-ttr-amyloidosis
#14
Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635556/executive-control-in-schizophrenia-a-preliminary-study-on-the-moderating-role-of-comt-val158met-for-comorbid-alcohol-and-substance-use-disorders
#15
Giuseppe Carrà, Gabriella Nicolini, Cristina Crocamo, Annamaria Lax, Francesca Amidani, Francesco Bartoli, Filippo Castellano, Alessia Chiorazzi, Giulia Gamba, Costanza Papagno, Massimo Clerici
BACKGROUND: A functional polymorphism in the catechol-O-methyltransferase (COMT) gene (Val158Met) appears to influence cognition in people with alcohol/substance use disorders (AUD/SUD) and in those with psychosis. METHODS: To explore the potential moderating effect of these factors, a cross-sectional study was conducted, randomly recruiting subjects with DSM-IV diagnosis of schizophrenia. AUD/SUD was rigorously assessed, as well as COMT Val158Met polymorphism. Executive control functioning was measured using the Intra-Extra Dimensional Set Shift (IED)...
February 14, 2017: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/28635414/core-shell-pla-pva-porous-microparticles-as-carriers-for-bacteriocin-nisin
#16
Pavlina Holcapkova, Martina Hrabalikova, Petra Stoplova, Vladimir Sedlarik
This work is focused on preparation of novel porous type of core-shell-structured microparticles based on polylactide (shell) and poly(vinyl alcohol) cross-linked with glutaric acid (GA) (core) prepared by water-in-oil-in-water solvent evaporation technique. The microparticle systems were used as delivery systems for immobilisation of model antibacterial agent - nisin. The effect of cross-linking and the initial amount of nisin on their morphology was investigated using scanning electron microscopy, BET analysis, zeta potential measurement and Fourier transform infra-red spectroscopy...
June 21, 2017: Journal of Microencapsulation
https://www.readbyqxmd.com/read/28635404/safety-and-efficacy-of-hepasphere-50-100%C3%A2-%C3%AE-m-in-the-treatment-of-hepatocellular-carcinoma
#17
Charles Edouard Zurstrassen, Luiz Paulo De Oliveira Gireli, Chiang Jeng Tyng, Almir Galvão Vieira Bitencourt, Marcos Duarte Guimarães, Paula Nicole Vieira Barbosa, Aline Cristine Barbosa Santos Cavalcante, João Paulo Matushita Junior, Mauricio Kauark Amoedo, Felipe Jose Coimbra, Rogério Camargo Pinheiro Alves, Rubens Chojniak
AIM: To evaluate the effects of HepaSphere 50-100 μm (Merit Medical) as a doxorubicin carrier and embolization agent for the treatment of hepatocellular carcinoma (HCC). MATERIAL AND METHODS: A prospective analysis of 18 patients recruited from a national cancer center was conducted. This analysis evaluated the efficacy and safety of HepaSphere, as expressed by the treatment response rate (measured by the modified Response Evaluation Criteria in Solid Tumors, mRECIST) and by the prevalence of treatment-related adverse events, respectively...
February 14, 2017: Minimally Invasive Therapy & Allied Technologies: MITAT
https://www.readbyqxmd.com/read/28635380/inorganic-nanoparticles-as-potential-regulators-of-immune-response-in-dendritic-cells
#18
Silvia Fogli, Costanza Montis, Sara Paccosi, Angela Silvano, Elena Michelucci, Debora Berti, Alberto Bosi, Astrid Parenti, Paolo Romagnoli
AIM: The spontaneous adsorption of proteins on nanoparticles (NPs) in biological media is exploited to prepare complexes of NPs and proteins from cancer cells' lysates for application in cancer immunotherapy. MATERIALS & METHODS: Gold (Au) and silica NPs were synthesized, incubated with cancer cells' lysates and characterized. Dendritic cells (DCs) were challenged with protein-coated NPs, their maturation, viability and morphology were evaluated and lymphocytes T proliferation was determined...
June 21, 2017: Nanomedicine
https://www.readbyqxmd.com/read/28635337/population-based-genetic-study-of-%C3%AE-thalassemia-mutations-in-mardan-division-khyber-pakhtunkhwa-province-pakistan
#19
Raj Muhammad, Muhammad Shakeel, Shoaib U Rehman, Muhammad A Lodhi
β-Thalassemia (β-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing β-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan...
June 21, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28635256/in-situ-gelation-induced-death-of-cancer-cells-based-on-proteinosomes
#20
Yuting Zhou, Jianmin Song, Lei Wang, Xuting Xue, Xiaoman Liu, Hui Xie, Xin Huang
Hydrogel is quite a nice kind of material, which can be utilized as the platform for cell culture. However, when bulky hydrogel was formed inside cancer cells, results would be changed. In this study, we showed a way of in situ gelation inside the cells which could induce the death of cancer cells. A glutathione (GSH) responsive proteinosomes, with nice biocompatibility, were prepared as carriers of sodium alginate to be endocytosed by cancer cells, where the chelation between sodium alginate and free calcium ions in the culture medium occurred during the diffusion process...
June 21, 2017: Biomacromolecules
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