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Dan Levy

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https://www.readbyqxmd.com/read/29788237/diagnostic-yield-of-next-generation-sequencing-in-very-early-onset-inflammatory-bowel-diseases-a-multicenter-study
#1
Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, Julie Bruneau, Cécile Fourrage, Olivier Alibeu, Frédéric Rieux-Laucat, Eva Lévy, Marie-Claude Stolzenberg, Fabienne Mazerolles, Sylvain Latour, Christelle Lenoir, Alain Fischer, Capucine Picard, Marina Aloi, Jorge Amil Dias, Mongi Ben Hariz, Anne Bourrier, Christian Breuer, Anne Breton, Jiri Bronski, Stephan Buderus, Mara Cananzi, Stéphanie Coopman, Clara Crémilleux, Alain Dabadie, Clémentine Dumant-Forest, Odul Egritas Gurkan, Alexandre Fabre, Aude Fischer, Marta German Diaz, Yago Gonzalez-Lama, Olivier Goulet, Graziella Guariso, Neslihan Gurcan, Matjaz Homan, Jean-Pierre Hugot, Eric Jeziorski, Evi Karanika, Alain Lachaux, Peter Lewindon, Rosa Lima, Fernando Magro, Janos Major, Georgia Malamut, Emmanuel Mas, Istvan Mattyus, Luisa M Mearin, Jan Melek, Victor Manuel Navas-Lopez, Anders Paerregaard, Cecile Pelatan, Bénédicte Pigneur, Isabel Pinto Pais, Julie Rebeuh, Claudio Romano, Nadia Siala, Caterina Strisciuglio, Michela Tempia-Caliera, Patrick Tounian, Dan Turner, Vaidotas Urbonas, Stéphanie Willot, Frank M Ruemmele, Nadine Cerf-Bensussan
Background and Aims: An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases (VEO-IBD). The present study aimed at defining how next-generation sequencing (NGS) methods can be used to improve identification of known molecular diagnosis and adapt treatment. Methods: 207 children were recruited in 45 Paediatric centres through an international collaborative network (ESPGHAN GENIUS working group) with a clinical presentation of severe VEO-IBD (n=185) or an anamnesis suggestive of a monogenic disorder (n=22)...
May 18, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29778536/enhanced-pkmt-substrate-recognition-through-non-active-site-interactions
#2
Margarita Kublanovsky, Amir Aharoni, Dan Levy
Protein lysine methyltransferases (PKMTs) catalyze the methylation of lysine residues on many different cellular proteins. Despite extensive biochemical and structural studies, focusing on PKMT active site-peptide interactions, little is known regarding how PKMTs recognize globular substrates. To examine whether these enzymes recognize protein substrates through interactions that take place outside of the active site, we have measured SETD6 and SETD7 activity with both protein and peptide RelA substrate. We have utilized the MTase-Glo™ methyltransferase assay to measure the activity of SETD6 and SETD7 with the different RelA substrates and calculated the Michaelis-Menten (MM) parameters...
May 17, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29750750/malignant-melanoma-clinically-mimicking-pyogenic-granuloma-comparison-of-clinical-evaluation-and-histopathology
#3
Michael Moshe, Assi Levi, Dean Ad-El, Dan Ben-Amitai, Daniel Mimouni, Elena Didkovsky, Meora Feinmesser, Moshe Lapidoth
Amelanotic melanomas (AMMs) account for a small proportion of all melanomas. They pose a risk of delayed diagnosis and, consequently, poor prognosis. AMMs may atypically present as a pyogenic granuloma-like lesion. This study sought to investigate the prevalence and clinical and histological features of AMM masquerading as pyogenic granuloma. The database of a tertiary medical center was screened for all patients pathologically diagnosed with melanoma in 2005-2016. Those with a suspected primary (i.e. pre-excision) clinical diagnosis of pyogenic granuloma were identified, and their demographic, clinical, histologic, and outcome data were collected from the medical files...
May 10, 2018: Melanoma Research
https://www.readbyqxmd.com/read/29743092/the-association-between-caries-related-treatment-needs-and-socio-demographic-variables-among-young-israeli-adults-a-record-based-cross-sectional-study
#4
Dan Henry Levy, Alon Livny, Harold Sgan-Cohen, Nirit Yavnai
BACKGROUD: The need for dental treatments, especially those related to dental caries, may be associated with and influenced by a wide range of demographic variables. The aim of this study was to describe caries related treatment needs among young Israeli adults and the association with several socio-demographic factors, including socio-economic cluster (SEC), intellectual capabilities, ethnicity and other variables. METHODS: Data were collected from dental records of army recruits between 2012 and 2013...
May 9, 2018: Israel Journal of Health Policy Research
https://www.readbyqxmd.com/read/29703787/dissociation-between-csd-evoked-metabolic-perturbations-and-meningeal-afferent-activation-and-sensitization-implications-for-mechanisms-of-migraine-headache-onset
#5
Jun Zhao, Dan Levy
The onset of the headache phase during attacks of migraine with aura, which occur in about 30% of migraineurs, is believed to involve cortical spreading depression (CSD) and the ensuing activation and sensitization of primary afferent neurons that innervate the intracranial meninges, and their related large vessels. The mechanism by which CSD enhances the activity and mechanosensitivity of meningeal afferents remains poorly understood, but may involve cortical metabolic perturbations. We employed extracellular single-unit recording of meningeal afferent activity and monitored changes in cortical blood flow and tissue partial pressure of oxygen (tpO2 ) in anesthetized male rats to test whether the prolonged cortical hypoperfusion and reduction in tissue oxygenation that occur in the wake of CSD contribute to meningeal nociception...
April 27, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29610475/the-long-tail-of-oncogenic-drivers-in-prostate-cancer
#6
Joshua Armenia, Stephanie A M Wankowicz, David Liu, Jianjiong Gao, Ritika Kundra, Ed Reznik, Walid K Chatila, Debyani Chakravarty, G Celine Han, Ilsa Coleman, Bruce Montgomery, Colin Pritchard, Colm Morrissey, Christopher E Barbieri, Himisha Beltran, Andrea Sboner, Zafeiris Zafeiriou, Susana Miranda, Craig M Bielski, Alexander V Penson, Charlotte Tolonen, Franklin W Huang, Dan Robinson, Yi Mi Wu, Robert Lonigro, Levi A Garraway, Francesca Demichelis, Philip W Kantoff, Mary-Ellen Taplin, Wassim Abida, Barry S Taylor, Howard I Scher, Peter S Nelson, Johann S de Bono, Mark A Rubin, Charles L Sawyers, Arul M Chinnaiyan, Nikolaus Schultz, Eliezer M Van Allen
Comprehensive genomic characterization of prostate cancer has identified recurrent alterations in genes involved in androgen signaling, DNA repair, and PI3K signaling, among others. However, larger and uniform genomic analysis may identify additional recurrently mutated genes at lower frequencies. Here we aggregate and uniformly analyze exome sequencing data from 1,013 prostate cancers. We identify and validate a new class of E26 transformation-specific (ETS)-fusion-negative tumors defined by mutations in epigenetic regulators, as well as alterations in pathways not previously implicated in prostate cancer, such as the spliceosome pathway...
April 2, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29610031/quantitative-assessment-of-primary-mitral-regurgitation-using-left-ventricular-volumes-obtained-with-new-automated-three-dimensional-transthoracic-echocardiographic-software-a-comparison-with-3-tesla-cardiac-magnetic-resonance
#7
Franck Levy, Sylvestre Marechaux, Laura Iacuzio, Elie Dan Schouver, Anne Laure Castel, Manuel Toledano, Stephane Rusek, Vincent Dor, Christophe Tribouilloy, Gilles Dreyfus
BACKGROUND: Quantitative assessment of primary mitral regurgitation (MR) using left ventricular (LV) volumes obtained with three-dimensional transthoracic echocardiography (3D TTE) recently showed encouraging results. Nevertheless, 3D TTE is not incorporated into everyday practice, as current LV chamber quantification software products are time consuming. AIMS: To investigate the accuracy and reproducibility of new automated fast 3D TTE software (HeartModelA.I. ; Philips Healthcare, Andover, MA, USA) for the quantification of LV volumes and MR severity in patients with isolated degenerative primary MR; and to compare regurgitant volume (RV) obtained with 3D TTE with a cardiac magnetic resonance (CMR) reference...
March 30, 2018: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/29455858/a-large-scale-multi-ancestry-genome-wide-study-accounting-for-smoking-behavior-identifies-multiple-significant-loci-for-blood-pressure
#8
Yun J Sung, Thomas W Winkler, Lisa de Las Fuentes, Amy R Bentley, Michael R Brown, Aldi T Kraja, Karen Schwander, Ioanna Ntalla, Xiuqing Guo, Nora Franceschini, Yingchang Lu, Ching-Yu Cheng, Xueling Sim, Dina Vojinovic, Jonathan Marten, Solomon K Musani, Changwei Li, Mary F Feitosa, Tuomas O Kilpeläinen, Melissa A Richard, Raymond Noordam, Stella Aslibekyan, Hugues Aschard, Traci M Bartz, Rajkumar Dorajoo, Yongmei Liu, Alisa K Manning, Tuomo Rankinen, Albert Vernon Smith, Salman M Tajuddin, Bamidele O Tayo, Helen R Warren, Wei Zhao, Yanhua Zhou, Nana Matoba, Tamar Sofer, Maris Alver, Marzyeh Amini, Mathilde Boissel, Jin Fang Chai, Xu Chen, Jasmin Divers, Ilaria Gandin, Chuan Gao, Franco Giulianini, Anuj Goel, Sarah E Harris, Fernando Pires Hartwig, Andrea R V R Horimoto, Fang-Chi Hsu, Anne U Jackson, Mika Kähönen, Anuradhani Kasturiratne, Brigitte Kühnel, Karin Leander, Wen-Jane Lee, Keng-Hung Lin, Jian 'an Luan, Colin A McKenzie, He Meian, Christopher P Nelson, Rainer Rauramaa, Nicole Schupf, Robert A Scott, Wayne H H Sheu, Alena Stančáková, Fumihiko Takeuchi, Peter J van der Most, Tibor V Varga, Heming Wang, Yajuan Wang, Erin B Ware, Stefan Weiss, Wanqing Wen, Lisa R Yanek, Weihua Zhang, Jing Hua Zhao, Saima Afaq, Tamuno Alfred, Najaf Amin, Dan Arking, Tin Aung, R Graham Barr, Lawrence F Bielak, Eric Boerwinkle, Erwin P Bottinger, Peter S Braund, Jennifer A Brody, Ulrich Broeckel, Claudia P Cabrera, Brian Cade, Yu Caizheng, Archie Campbell, Mickaël Canouil, Aravinda Chakravarti, Ganesh Chauhan, Kaare Christensen, Massimiliano Cocca, Francis S Collins, John M Connell, Renée de Mutsert, H Janaka de Silva, Stephanie Debette, Marcus Dörr, Qing Duan, Charles B Eaton, Georg Ehret, Evangelos Evangelou, Jessica D Faul, Virginia A Fisher, Nita G Forouhi, Oscar H Franco, Yechiel Friedlander, He Gao, Bruna Gigante, Misa Graff, C Charles Gu, Dongfeng Gu, Preeti Gupta, Saskia P Hagenaars, Tamara B Harris, Jiang He, Sami Heikkinen, Chew-Kiat Heng, Makoto Hirata, Albert Hofman, Barbara V Howard, Steven Hunt, Marguerite R Irvin, Yucheng Jia, Roby Joehanes, Anne E Justice, Tomohiro Katsuya, Joel Kaufman, Nicola D Kerrison, Chiea Chuen Khor, Woon-Puay Koh, Heikki A Koistinen, Pirjo Komulainen, Charles Kooperberg, Jose E Krieger, Michiaki Kubo, Johanna Kuusisto, Carl D Langefeld, Claudia Langenberg, Lenore J Launer, Benjamin Lehne, Cora E Lewis, Yize Li, Sing Hui Lim, Shiow Lin, Ching-Ti Liu, Jianjun Liu, Jingmin Liu, Kiang Liu, Yeheng Liu, Marie Loh, Kurt K Lohman, Jirong Long, Tin Louie, Reedik Mägi, Anubha Mahajan, Thomas Meitinger, Andres Metspalu, Lili Milani, Yukihide Momozawa, Andrew P Morris, Thomas H Mosley, Peter Munson, Alison D Murray, Mike A Nalls, Ubaydah Nasri, Jill M Norris, Kari North, Adesola Ogunniyi, Sandosh Padmanabhan, Walter R Palmas, Nicholette D Palmer, James S Pankow, Nancy L Pedersen, Annette Peters, Patricia A Peyser, Ozren Polasek, Olli T Raitakari, Frida Renström, Treva K Rice, Paul M Ridker, Antonietta Robino, Jennifer G Robinson, Lynda M Rose, Igor Rudan, Charumathi Sabanayagam, Babatunde L Salako, Kevin Sandow, Carsten O Schmidt, Pamela J Schreiner, William R Scott, Sudha Seshadri, Peter Sever, Colleen M Sitlani, Jennifer A Smith, Harold Snieder, John M Starr, Konstantin Strauch, Hua Tang, Kent D Taylor, Yik Ying Teo, Yih Chung Tham, André G Uitterlinden, Melanie Waldenberger, Lihua Wang, Ya X Wang, Wen Bin Wei, Christine Williams, Gregory Wilson, Mary K Wojczynski, Jie Yao, Jian-Min Yuan, Alan B Zonderman, Diane M Becker, Michael Boehnke, Donald W Bowden, John C Chambers, Yii-Der Ida Chen, Ulf de Faire, Ian J Deary, Tõnu Esko, Martin Farrall, Terrence Forrester, Paul W Franks, Barry I Freedman, Philippe Froguel, Paolo Gasparini, Christian Gieger, Bernardo Lessa Horta, Yi-Jen Hung, Jost B Jonas, Norihiro Kato, Jaspal S Kooner, Markku Laakso, Terho Lehtimäki, Kae-Woei Liang, Patrik K E Magnusson, Anne B Newman, Albertine J Oldehinkel, Alexandre C Pereira, Susan Redline, Rainer Rettig, Nilesh J Samani, James Scott, Xiao-Ou Shu, Pim van der Harst, Lynne E Wagenknecht, Nicholas J Wareham, Hugh Watkins, David R Weir, Ananda R Wickremasinghe, Tangchun Wu, Wei Zheng, Yoichiro Kamatani, Cathy C Laurie, Claude Bouchard, Richard S Cooper, Michele K Evans, Vilmundur Gudnason, Sharon L R Kardia, Stephen B Kritchevsky, Daniel Levy, Jeff R O'Connell, Bruce M Psaty, Rob M van Dam, Mario Sims, Donna K Arnett, Dennis O Mook-Kanamori, Tanika N Kelly, Ervin R Fox, Caroline Hayward, Myriam Fornage, Charles N Rotimi, Michael A Province, Cornelia M van Duijn, E Shyong Tai, Tien Yin Wong, Ruth J F Loos, Alex P Reiner, Jerome I Rotter, Xiaofeng Zhu, Laura J Bierut, W James Gauderman, Mark J Caulfield, Paul Elliott, Kenneth Rice, Patricia B Munroe, Alanna C Morrison, L Adrienne Cupples, Dabeeru C Rao, Daniel I Chasman
Genome-wide association analysis advanced understanding of blood pressure (BP), a major risk factor for vascular conditions such as coronary heart disease and stroke. Accounting for smoking behavior may help identify BP loci and extend our knowledge of its genetic architecture. We performed genome-wide association meta-analyses of systolic and diastolic BP incorporating gene-smoking interactions in 610,091 individuals. Stage 1 analysis examined ∼18.8 million SNPs and small insertion/deletion variants in 129,913 individuals from four ancestries (European, African, Asian, and Hispanic) with follow-up analysis of promising variants in 480,178 additional individuals from five ancestries...
March 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29435148/peptide-inhibition-of-the-setd6-methyltransferase-catalytic-activity
#9
Michal Feldman, Dan Levy
A large body of evidence accumulating in the past few years indicates the physiological significance of non-histone proteins lysine methylation, catalyzed by protein lysine methyl transferases (PKMTs). Dysregulation of these enzymes was shown to contribute to the development and progression of numerous diseases. SETD6 lysine methylatransferase was recently shown to participate in essential cellular processes, such as the NFkB pathway, oxidative stress and also the Wnt signaling cascade. In order to test the effect of blocking SETD6 catalytic activity, we used the peptide inhibition method, which is considered highly specific and can potentially target almost any protein...
January 12, 2018: Oncotarget
https://www.readbyqxmd.com/read/29430561/the-cgrp-receptor-antagonist-bibn4096-inhibits-prolonged-meningeal-afferent-activation-evoked-by-brief-local-k-stimulation-but-not-cortical-spreading-depression-induced-afferent-sensitization
#10
Jun Zhao, Dan Levy
Introduction: Cortical spreading depression (CSD) is believed to promote migraine headache by enhancing the activity and mechanosensitivity of trigeminal intracranial meningeal afferents. One putative mechanism underlying this afferent response involves an acute excitation of meningeal afferents by cortical efflux of K+ and the ensuing antidromic release of proinflammatory sensory neuropeptides, such as calcitonin gene-related peptide (CGRP). Objectives: We sought to investigate whether (1) a brief meningeal K+ stimulus leads to CGRP-dependent enhancement of meningeal afferent responses and (2) CSD-induced meningeal afferent activation and sensitization involve CGRP receptor signaling...
January 2018: Pain Reports (Baltimore, Md.)
https://www.readbyqxmd.com/read/29429884/midterm-prospective-comparative-analysis-of-2-hard-on-hard-bearing-total-hip-arthroplasty-designs
#11
J Ryan Martin, Jason M Jennings, Tyler S Watters, Dan L Levy, Todd M Miner, Douglas A Dennis
INTRODUCTION: Hard-on-hard (HoH) bearing surfaces in total hip arthroplasty (THA) are commonly utilized in younger patients and may decrease mechanical wear compared to polyethylene bearing surfaces. To our knowledge, no study has prospectively compared the 2 most common HoH bearings, ceramic-on-ceramic (CoC) and metal-on-metal (MoM) THA. MATERIALS AND METHODS: We prospectively enrolled 40 patients to undergo an MoM THA and 42 patients to undergo a CoC THA utilizing the same acetabular component...
January 31, 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29359348/william-gary-flamm-1935-2017
#12
Sidney Green, Dan D Levy, Ronald J Lorentzen, Errol Zeiger
No abstract text is available yet for this article.
March 2018: Environmental and Molecular Mutagenesis
https://www.readbyqxmd.com/read/29311590/vitamin-a-and-e-nutritional-status-in-relation-to-leptin-adiponectin-igf-i-and-igf-ii-in-early-life-a-birth-cohort-study
#13
Qinwen Du, Zhong-Cheng Luo, Anne Monique Nuyt, Francois Audibert, Pierre Julien, Shu-Qin Wei, Dan-Li Zhang, William Fraser, Emile Levy
The metabolic health effects of vitamin A and E nutritional status in early life are largely unknown. We assessed whether vitamin A and vitamin E nutritional status may affect circulating leptin, adiponectin, insulin-like growth factor (IGF)-I and IGF-II levels in early life in humans. In a singleton birth cohort (n = 248), vitamin A and E nutritional status in fetuses/newborns were assessed by cord plasma concentrations of retinol, β-carotene, α- and γ-tocopherols. The primary outcomes were cord plasma leptin, adiponectin, IGF-I and IGF-II concentrations...
January 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29299693/picosecond-532-nm-neodymium-doped-yttrium-aluminum-garnet-laser-a-promising-modality-for-the-management-of-verrucous-epidermal-nevi
#14
Assi Levi, Dan Ben Amitai, Daniel Mimouni, Yael A Leshem, Ofir Arzi, Moshe Lapidoth
The verrucous epidermal nevus (VEN) is the most common type of epidermal nevi. As lesions can be disfiguring, treatment is often sought. Many therapeutic approaches have been reported, with variable efficacy and safety. Picosecond (PS) lasers are novel laser devices designated to target small chromophores. A side effect of these lasers is blistering due to epidermal-dermal separation. We aimed to harness this side effect of the PS lasers to treat patients with VEN. The purpose of this study was to report our experience treating VEN using a PS 532-nm laser...
April 2018: Lasers in Medical Science
https://www.readbyqxmd.com/read/29217296/smaller-hippocampal-volume-in-posttraumatic-stress-disorder-a-multisite-enigma-pgc-study-subcortical-volumetry-results-from-posttraumatic-stress-disorder-consortia
#15
Mark W Logue, Sanne J H van Rooij, Emily L Dennis, Sarah L Davis, Jasmeet P Hayes, Jennifer S Stevens, Maria Densmore, Courtney C Haswell, Jonathan Ipser, Saskia B J Koch, Mayuresh Korgaonkar, Lauren A M Lebois, Matthew Peverill, Justin T Baker, Premika S W Boedhoe, Jessie L Frijling, Staci A Gruber, Ilan Harpaz-Rotem, Neda Jahanshad, Sheri Koopowitz, Ifat Levy, Laura Nawijn, Lauren O'Connor, Miranda Olff, David H Salat, Margaret A Sheridan, Jeffrey M Spielberg, Mirjam van Zuiden, Sherry R Winternitz, Jonathan D Wolff, Erika J Wolf, Xin Wang, Kristen Wrocklage, Chadi G Abdallah, Richard A Bryant, Elbert Geuze, Tanja Jovanovic, Milissa L Kaufman, Anthony P King, John H Krystal, Jim Lagopoulos, Maxwell Bennett, Ruth Lanius, Israel Liberzon, Regina E McGlinchey, Katie A McLaughlin, William P Milberg, Mark W Miller, Kerry J Ressler, Dick J Veltman, Dan J Stein, Kathleen Thomaes, Paul M Thompson, Rajendra A Morey
BACKGROUND: Many studies report smaller hippocampal and amygdala volumes in posttraumatic stress disorder (PTSD), but findings have not always been consistent. Here, we present the results of a large-scale neuroimaging consortium study on PTSD conducted by the Psychiatric Genomics Consortium (PGC)-Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) PTSD Working Group. METHODS: We analyzed neuroimaging and clinical data from 1868 subjects (794 PTSD patients) contributed by 16 cohorts, representing the largest neuroimaging study of PTSD to date...
February 1, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29180472/utility-of-single-cell-genomics-in-diagnostic-evaluation-of-prostate-cancer
#16
Joan Alexander, Jude Kendall, Jean McIndoo, Linda Rodgers, Robert Aboukhalil, Dan Levy, Asya Stepansky, Guoli Sun, Lubomir Chobardjiev, Michael Riggs, Hilary Cox, Inessa Hakker, Dawid G Nowak, Juliana Laze, Elton Llukani, Abhishek Srivastava, Siobhan Gruschow, Shalini S Yadav, Brian Robinson, Gurinder Atwal, Lloyd C Trotman, Herbert Lepor, James Hicks, Michael Wigler, Alexander Krasnitz
A distinction between indolent and aggressive disease is a major challenge in diagnostics of prostate cancer. As genetic heterogeneity and complexity may influence clinical outcome, we have initiated studies on single tumor cell genomics. In this study, we demonstrate that sparse DNA sequencing of single-cell nuclei from prostate core biopsies is a rich source of quantitative parameters for evaluating neoplastic growth and aggressiveness. These include the presence of clonal populations, the phylogenetic structure of those populations, the degree of the complexity of copy-number changes in those populations, and measures of the proportion of cells with clonal copy-number signatures...
January 15, 2018: Cancer Research
https://www.readbyqxmd.com/read/29161423/partial-bisulfite-conversion-for-unique-template-sequencing
#17
Vijay Kumar, Julie Rosenbaum, Zihua Wang, Talitha Forcier, Michael Ronemus, Michael Wigler, Dan Levy
We introduce a new protocol, mutational sequencing or muSeq, which uses sodium bisulfite to randomly deaminate unmethylated cytosines at a fixed and tunable rate. The muSeq protocol marks each initial template molecule with a unique mutation signature that is present in every copy of the template, and in every fragmented copy of a copy. In the sequenced read data, this signature is observed as a unique pattern of C-to-T or G-to-A nucleotide conversions. Clustering reads with the same conversion pattern enables accurate count and long-range assembly of initial template molecules from short-read sequence data...
January 25, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29155903/a-surprising-substituent-effect-in-corroles-on-the-electrochemical-activation-of-oxygen-reduction
#18
Naomi Levy, Jennifer S Shpilman, Hilah C Honig, Dan T Major, Lior Elbaz
Four β-pyrrole-substituted cobalt(iii) corroles were studied as electrocatalysts for the oxygen reduction reaction. The results disclose high dependence of the corrole's performance on its substituents, but once adsorbed on a high surface area carbon, this effect vanishes, resulting in a better catalytic performance than most well-defined molecular electrocatalysts for this reaction.
November 30, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/29144510/characterizing-reduced-coverage-regions-through-comparison-of-exome-and-genome-sequencing-data-across-10-centers
#19
Rashesh V Sanghvi, Christian J Buhay, Bradford C Powell, Ellen A Tsai, Michael O Dorschner, Celine S Hong, Matthew S Lebo, Ariella Sasson, David S Hanna, Sean McGee, Kevin M Bowling, Gregory M Cooper, David E Gray, Robert J Lonigro, Andrew Dunford, Christine A Brennan, Carrie Cibulskis, Kimberly Walker, Mauricio O Carneiro, Joshua Sailsbery, Lucia A Hindorff, Dan R Robinson, Avni Santani, Mahdi Sarmady, Heidi L Rehm, Leslie G Biesecker, Deborah A Nickerson, Carolyn M Hutter, Levi Garraway, Donna M Muzny, Nikhil Wagle
PurposeAs massively parallel sequencing is increasingly being used for clinical decision making, it has become critical to understand parameters that affect sequencing quality and to establish methods for measuring and reporting clinical sequencing standards. In this report, we propose a definition for reduced coverage regions and describe a set of standards for variant calling in clinical sequencing applications.MethodsTo enable sequencing centers to assess the regions of poor sequencing quality in their own data, we optimized and used a tool (ExCID) to identify reduced coverage loci within genes or regions of particular interest...
November 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29106494/impact-of-pulmonary-hypertension-on-long-term-outcome-in-patients-with-severe-aortic-stenosis
#20
Franck Levy, Yohann Bohbot, Khalil Sanhadji, Dan Rusinaru, Anne Ringle, Quentin Delpierre, Sondes Smaali, Mesut Gun, Sylvestre Marechaux, Christophe Tribouilloy
Aims: Pulmonary hypertension (PH) is common in severe symptomatic left-sided valvular disease, particularly in aging populations. Inconsistent results have been reported concerning the association between PH and adverse outcomes after aortic valve replacement for aortic stenosis (AS). We therefore retrospectively investigated the prognostic significance of PH using peak tricuspid regurgitation velocity (TRV), as defined by the current European Society of Cardiology (ESC)/European Respiratory Society (ERS) guidelines, in a large cohort of patients with severe AS...
June 30, 2017: European Heart Journal Cardiovascular Imaging
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