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https://www.readbyqxmd.com/read/28634413/topical-fibronectin-improves-wound-healing-of-irradiated-skin
#1
Maxwell B Johnson, Brandon Pang, Daniel J Gardner, Solmaz Niknam-Benia, Vinaya Soundarajan, Athanasios Bramos, David P Perrault, Kian Banks, Gene K Lee, Regina Y Baker, Gene H Kim, Sunju Lee, Yang Chai, Mei Chen, Wei Li, Lawrence Kwong, Young-Kwon Hong, Alex K Wong
Wound healing is significantly delayed in irradiated skin. To better understand global changes in protein expression after radiation, we utilized a reverse phase protein array (RPPA) to identify significant changes in paired samples of normal and irradiated human skin. Of the 210 proteins studied, fibronectin was the most significantly and consistently downregulated in radiation-damaged skin. Using a murine model, we confirmed that radiation leads to decreased fibronectin expression in the skin as well as delayed wound healing...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28630288/intact-pirna-pathway-prevents-l1-mobilization-in-male-meiosis
#2
Simon J Newkirk, Suman Lee, Fiorella C Grandi, Valeriya Gaysinskaya, James M Rosser, Nicole Vanden Berg, Cathryn A Hogarth, Maria C N Marchetto, Alysson R Muotri, Michael D Griswold, Ping Ye, Alex Bortvin, Fred H Gage, Jef D Boeke, Wenfeng An
The PIWI-interacting RNA (piRNA) pathway is essential for retrotransposon silencing. In piRNA-deficient mice, L1-overexpressing male germ cells exhibit excessive DNA damage and meiotic defects. It remains unknown whether L1 expression simply highlights piRNA deficiency or actually drives the germ-cell demise. Specifically, the sheer abundance of genomic L1 copies prevents reliable quantification of new insertions. Here, we developed a codon-optimized L1 transgene that is controlled by an endogenous mouse L1 promoter...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28617171/using-mobile-phone-technology-to-support-young-liver-transplant-recipients-moving-to-adult-services
#3
Jane Coad, Alex Toft, Lee Claridge, James Ferguson, Jonathon Hind, Rebecca Jones, Patricia McClean, Patrick McKiernan, Marianne Samyn, Rachel Taylor
BACKGROUND: The process and preparation of moving from child to adult services (transition) is a challenging period of time for young people and represents significant changes in care and support systems. The proliferation of mobile phone applications for health purposes suggests that it is an area for further investigation. OBJECTIVE: The review explores the potential to use mobile phone technology to help support young liver transplant recipients moving to adult services...
June 2017: Progress in Transplantation
https://www.readbyqxmd.com/read/28612611/drill-an-esi-ms-interface-for-improved-sensitivity-via-inertial-droplet-sorting-and-electrohydrodynamic-focusing-in-a-swirling-flow
#4
Peter A Kottke, Jung Y Lee, Alex P Jonke, Chinthaka A Seneviratne, Elizabeth Sara Hecht, David C Muddiman, Matthew P Torres, Andrei G Fedorov
We describe the DRILL (DRy Ion Localization and Locomotion) device, which is an interface for electrospray ionization (ESI) mass spectrometry (MS) that exploits a swirling flow to enable the use of inertial separation to prescribe different fates for electrosprayed droplets based on their size. This source adds a new approach to charged droplet trajectory manipulation, which, when combined with hydrodynamic drag forces and electric field forces, provides a rich range of possible DRILL operational modes. Here, we experimentally demonstrate sensitivity improvement obtained via vortex-induced inertial sorting of electrosprayed droplets/ions - one possible mode of DRILL operation...
June 14, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28612218/collective-cell-migration-has-distinct-directionality-and-speed-dynamics
#5
Yan Zhang, Guoqing Xu, Rachel M Lee, Zijie Zhu, Jiandong Wu, Simon Liao, Gong Zhang, Yaohui Sun, Alex Mogilner, Wolfgang Losert, Tingrui Pan, Francis Lin, Zhengping Xu, Min Zhao
When a constraint is removed, confluent cells migrate directionally into the available space. How the migration directionality and speed increase are initiated at the leading edge and propagate into neighboring cells are not well understood. Using a quantitative visualization technique-Particle Image Velocimetry (PIV)-we revealed that migration directionality and speed had strikingly different dynamics. Migration directionality increases as a wave propagating from the leading edge into the cell sheet, while the increase in cell migration speed is maintained only at the leading edge...
June 13, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28607939/the-role-of-the-peripheral-passive-rotation-stabilizers-of-the-knee-with-intact-collateral-and-cruciate-ligaments-a-biomechanical-study
#6
Alexander R Vap, Jason M Schon, Gilbert Moatshe, Raphael S Cruz, Alex W Brady, Grant J Dornan, Travis Lee Turnbull, Robert F LaPrade
BACKGROUND: A subset of patients have clinical internal and/or external knee rotational instability despite no apparent injury to the cruciate or collateral ligaments. PURPOSE/HYPOTHESIS: The purpose of this study was to assess the effect of sequentially cutting the posterolateral, anterolateral, posteromedial, and anteromedial structures of the knee on rotational stability in the setting of intact cruciate and collateral ligaments. It was hypothesized that cutting of the iliotibial band (ITB), anterolateral ligament and lateral capsule (ALL/LC), posterior oblique ligament (POL), and posteromedial capsule (PMC) would significantly increase internal rotation, while sectioning of the anteromedial capsule (AMC) and the popliteus tendon and popliteofibular ligament (PLT/PFL) would lead to a significant increase in external knee rotation...
May 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28600474/use-of-angiotensin-system-inhibitors-is-associated-with-immune-activation-and-longer-survival-in-non-metastatic-pancreatic-ductal-adenocarcinoma
#7
Hao Liu, Kamila Naxerova, Matthias Pinter, Joao Incio, Hang Lee, Kohei Shigeta, William W Ho, Jonathan A Crain, Alex Jacobson, Theodoros Michelakos, Daniella Dias-Santos, Andrea Zanconato, Theodore S Hong, Jeffrey W Clark, Janet E Murphy, David P Ryan, Vikram Deshpande, Keith D Lillemoe, Carlos Fernandez-Del Castillo, Michael Downes, Ronald M Evans, James Michaelson, Cristina R Ferrone, Yves Boucher, Rakesh K Jain
Angiotensin system inhibitors (ASIs) can improve prognosis in multiple cancer types, including pancreatic ductal adenocarcinoma (PDAC). However, no study has examined the effect of ASIs alone or combined with adjuvant chemotherapy in resected PDAC patients.<br /><br />Experimental Design: We performed an analysis of the records of ASI users and non-user patients with PDAC seen at Massachusetts General Hospital between January 2006 and December 2010. To identify mechanisms of ASIs in PDAC, we performed RNA-Seq of resected primary lesions...
June 9, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28599614/iodine-contents-in-prenatal-vitamins-in-the-u-s
#8
Sun Y Lee, Alex Stagnaro-Green, Douglas MacKay, Andrea W Wong, Elizabeth N Pearce
No abstract required.
June 9, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28592916/a-reduction-in-selenoprotein-s-amplifies-the-inflammatory-profile-of-fast-twitch-skeletal-muscle-in-the-mdx-dystrophic-mouse
#9
Craig Robert Wright, Giselle Larissa Allsopp, Alex Bernard Addinsall, Natasha Lee McRae, Sofianos Andrikopoulos, Nicole Stupka
Excessive inflammation is a hallmark of muscle myopathies, including Duchenne muscular dystrophy (DMD). There is interest in characterising novel genes that regulate inflammation due to their potential to modify disease progression. Gene polymorphisms in Selenoprotein S (Seps1) are associated with elevated proinflammatory cytokines, and in vitro SEPS1 is protective against inflammatory stress. Given that SEPS1 is highly expressed in skeletal muscle, we investigated whether the genetic reduction of Seps1 exacerbated inflammation in the mdx mouse...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28592453/diagnosis-and-management-of-dementia-with-lewy-bodies-fourth-consensus-report-of-the-dlb-consortium
#10
REVIEW
Ian G McKeith, Bradley F Boeve, Dennis W Dickson, Glenda Halliday, John-Paul Taylor, Daniel Weintraub, Dag Aarsland, James Galvin, Johannes Attems, Clive G Ballard, Ashley Bayston, Thomas G Beach, Frédéric Blanc, Nicolaas Bohnen, Laura Bonanni, Jose Bras, Patrick Brundin, David Burn, Alice Chen-Plotkin, John E Duda, Omar El-Agnaf, Howard Feldman, Tanis J Ferman, Dominic Ffytche, Hiroshige Fujishiro, Douglas Galasko, Jennifer G Goldman, Stephen N Gomperts, Neill R Graff-Radford, Lawrence S Honig, Alex Iranzo, Kejal Kantarci, Daniel Kaufer, Walter Kukull, Virginia M Y Lee, James B Leverenz, Simon Lewis, Carol Lippa, Angela Lunde, Mario Masellis, Eliezer Masliah, Pamela McLean, Brit Mollenhauer, Thomas J Montine, Emilio Moreno, Etsuro Mori, Melissa Murray, John T O'Brien, Sotoshi Orimo, Ronald B Postuma, Shankar Ramaswamy, Owen A Ross, David P Salmon, Andrew Singleton, Angela Taylor, Alan Thomas, Pietro Tiraboschi, Jon B Toledo, John Q Trojanowski, Debby Tsuang, Zuzana Walker, Masahito Yamada, Kenji Kosaka
The Dementia with Lewy Bodies (DLB) Consortium has refined its recommendations about the clinical and pathologic diagnosis of DLB, updating the previous report, which has been in widespread use for the last decade. The revised DLB consensus criteria now distinguish clearly between clinical features and diagnostic biomarkers, and give guidance about optimal methods to establish and interpret these. Substantial new information has been incorporated about previously reported aspects of DLB, with increased diagnostic weighting given to REM sleep behavior disorder and (123)iodine-metaiodobenzylguanidine (MIBG) myocardial scintigraphy...
June 7, 2017: Neurology
https://www.readbyqxmd.com/read/28583944/variation-in-referral-and-access-to-new-psychological-therapy-services-by-age-an-empirical-quantitative-study
#11
Sophie Pettit, Adam Qureshi, William Lee, Alex Stirzaker, Alex Gibson, William Henley, Richard Byng
BACKGROUND: Older people with common mental health problems (CMHPs) are known to have reduced rates of referral to psychological therapy. AIM: To assess referral rates to the Improving Access to Psychological Therapies (IAPT) services, contact with a therapist, and clinical outcome by age. DESIGN AND SETTING: Empirical research study using patient episodes of care from South West of England IAPT services. METHOD: By analysing 82 513 episodes of care (2010-2011), referral rates and clinical improvement were compared with both total population and estimated prevalence in each age group using IAPT data...
June 5, 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/28581925/an-evaluation-of-thiomicrospira-hydrogenovibrio-and-thioalkalimicrobium-reclassification-of-four-species-of-thiomicrospira-to-each-thiomicrorhabdus-gen-nov-and-hydrogenovibrio-and-reclassification-of-all-four-species-of-thioalkalimicrobium-to-thiomicrospira
#12
Rich Boden, Kathleen M Scott, John Williams, Sydney Russel, Kirsten Antonen, Alex W Rae, Lee P Hutt
Thiomicrospira(Tms) species are small sulfur-oxidizing chemolithoautotrophic members of the Gammaproteobacteria. Whilst the type species Tms. pelophila and closely related Tms. thyasirae exhibit canonical spiral morphology under sub-optimal growth conditions, most species are vibrios or rods. The 16S rRNA gene diversity is vast, with identities as low as 91.6 % for Tms. pelophila versus Tms. frisia, for example. Thiomicrospira was examined with closely related genera Hydrogenovibrio and Thioalkalimicrobium and, to rationalize organisms on the basis of the 16S rRNA gene phylogeny, physiology and morphology, we reclassify Tms...
May 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28581923/reclassification-of-thiobacillus-aquaesulis-wood-kelly-1995-as-annwoodia-aquaesulis-gen-nov-comb-nov-transfer-of-thiobacillus-beijerinck-1904-from-the-hydrogenophilales-to-the-nitrosomonadales-proposal-of-hydrogenophilalia-class-nov-within-the-proteobacteria
#13
Rich Boden, Lee P Hutt, Alex W Rae
The genus Thiobacillus comprises four species with validly published names, of which Thiobacillus aquaesulis DSM 4255T (=ATCC 43788T) is the only species that can grow heterotrophically or mixotrophically - the rest being obligate autotrophs - and has a significant metabolic difference in not producing tetrathionate during the oxidation of thiosulfate during autotrophic growth. On the basis of this and differential chemotaxonomic properties and a 16S rRNA gene sequence similarity of 93.4 % to the type species Thiobacillus thioparus DSM 505T, we propose that it is moved to a novel genus, Annwoodia gen...
May 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28572923/the-rehydration-behavior-of-microwave-dried-amaranth-amaranthus-dubius-leaves
#14
Saheeda Mujaffar, Alex Lee Loy
The effect of temperature (35, 50, and 60°C) on the rehydration behavior of microwave-dried amaranth (Amaranthus dubius) leaves was investigated. Leaves were dried at 700 W power level before rehydrating in water. The higher the rehydration temperature, the higher the equilibrium moisture content of the leaves, although the effect was not statistically significant. The increase in rehydration ratio was significant only as temperature increased from 50 to 60°C. The process was adequately described by the Peleg sorption model, with the Peleg rate constant (K1) and the Peleg capacity constant (K2), both decreasing as rehydration temperature increased...
May 2017: Food Science & Nutrition
https://www.readbyqxmd.com/read/28570621/effect-of-glaucoma-on-eye-movement-patterns-and-laboratory-based-hazard-detection-ability
#15
Samantha Sze-Yee Lee, Alex A Black, Joanne M Wood
PURPOSE: The mechanisms underlying the elevated crash rates of older drivers with glaucoma are poorly understood. A key driving skill is timely detection of hazards; however, the hazard detection ability of drivers with glaucoma has been largely unexplored. This study assessed the eye movement patterns and visual predictors of performance on a laboratory-based hazard detection task in older drivers with glaucoma. METHODS: Participants included 30 older drivers with glaucoma (71±7 years; average better-eye mean deviation (MD) = -3...
2017: PloS One
https://www.readbyqxmd.com/read/28559948/bone-scintigraphy-and-tenofovir-induced-osteomalacia-in-chronic-hepatitis-b
#16
Alex Khoo Cheen Hoe, Lee Yeong Fong
Tenofovir, used in the treatment of chronic hepatitis B and HIV, is known for its side effects on the kidneys and bones. We share interesting images of a patient with tenofovir-induced osteomalacia on Technetium-99 m hydroxymethyelene (Tc-99 m HDP) bone scintigraphy. Pattern recognition of this bone scintigraphy and correlation with the clinical history is essential to avoid misdiagnosis.
June 2017: Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28559340/microlayer-source-of-oxygenated-volatile-organic-compounds-in-the-summertime-marine-arctic-boundary-layer
#17
Emma L Mungall, Jonathan P D Abbatt, Jeremy J B Wentzell, Alex K Y Lee, Jennie L Thomas, Marjolaine Blais, Michel Gosselin, Lisa A Miller, Tim Papakyriakou, Megan D Willis, John Liggio
Summertime Arctic shipboard observations of oxygenated volatile organic compounds (OVOCs) such as organic acids, key precursors of climatically active secondary organic aerosol (SOA), are consistent with a novel source of OVOCs to the marine boundary layer via chemistry at the sea surface microlayer. Although this source has been studied in a laboratory setting, organic acid emissions from the sea surface microlayer have not previously been observed in ambient marine environments. Correlations between measurements of OVOCs, including high levels of formic acid, in the atmosphere (measured by an online high-resolution time-of-flight mass spectrometer) and dissolved organic matter in the ocean point to a marine source for the measured OVOCs...
May 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28553957/genetic-association-study-of-exfoliation-syndrome-identifies-a-protective-rare-variant-at-loxl1-and-five-new-susceptibility-loci
#18
Tin Aung, Mineo Ozaki, Mei Chin Lee, Ursula Schlötzer-Schrehardt, Gudmar Thorleifsson, Takanori Mizoguchi, Robert P Igo, Aravind Haripriya, Susan E Williams, Yury S Astakhov, Andrew C Orr, Kathryn P Burdon, Satoko Nakano, Kazuhiko Mori, Khaled Abu-Amero, Michael Hauser, Zheng Li, Gopalakrishnan Prakadeeswari, Jessica N Cooke Bailey, Alina Popa Cherecheanu, Jae H Kang, Sarah Nelson, Ken Hayashi, Shin-Ichi Manabe, Shigeyasu Kazama, Tomasz Zarnowski, Kenji Inoue, Murat Irkec, Miguel Coca-Prados, Kazuhisa Sugiyama, Irma Järvelä, Patricio Schlottmann, S Fabian Lerner, Hasnaa Lamari, Yildirim Nilgün, Mukharram Bikbov, Ki Ho Park, Soon Cheol Cha, Kenji Yamashiro, Juan C Zenteno, Jost B Jonas, Rajesh S Kumar, Shamira A Perera, Anita S Y Chan, Nino Kobakhidze, Ronnie George, Lingam Vijaya, Tan Do, Deepak P Edward, Lourdes de Juan Marcos, Mohammad Pakravan, Sasan Moghimi, Ryuichi Ideta, Daniella Bach-Holm, Per Kappelgaard, Barbara Wirostko, Samuel Thomas, Daniel Gaston, Karen Bedard, Wenda L Greer, Zhenglin Yang, Xueyi Chen, Lulin Huang, Jinghong Sang, Hongyan Jia, Liyun Jia, Chunyan Qiao, Hui Zhang, Xuyang Liu, Bowen Zhao, Ya-Xing Wang, Liang Xu, Stéphanie Leruez, Pascal Reynier, George Chichua, Sergo Tabagari, Steffen Uebe, Matthias Zenkel, Daniel Berner, Georg Mossböck, Nicole Weisschuh, Ursula Hoja, Ulrich-Christoph Welge-Luessen, Christian Mardin, Panayiota Founti, Anthi Chatzikyriakidou, Theofanis Pappas, Eleftherios Anastasopoulos, Alexandros Lambropoulos, Arkasubhra Ghosh, Rohit Shetty, Natalia Porporato, Vijayan Saravanan, Rengaraj Venkatesh, Chandrashekaran Shivkumar, Narendran Kalpana, Sripriya Sarangapani, Mozhgan R Kanavi, Afsaneh Naderi Beni, Shahin Yazdani, Alireza Lashay, Homa Naderifar, Nassim Khatibi, Antonio Fea, Carlo Lavia, Laura Dallorto, Teresa Rolle, Paolo Frezzotti, Daniela Paoli, Erika Salvi, Paolo Manunta, Yosai Mori, Kazunori Miyata, Tomomi Higashide, Etsuo Chihara, Satoshi Ishiko, Akitoshi Yoshida, Masahide Yanagi, Yoshiaki Kiuchi, Tsutomu Ohashi, Toshiya Sakurai, Takako Sugimoto, Hideki Chuman, Makoto Aihara, Masaru Inatani, Masahiro Miyake, Norimoto Gotoh, Fumihiko Matsuda, Nagahisa Yoshimura, Yoko Ikeda, Morio Ueno, Chie Sotozono, Jin Wook Jeoung, Min Sagong, Kyu Hyung Park, Jeeyun Ahn, Marisa Cruz-Aguilar, Sidi M Ezzouhairi, Abderrahman Rafei, Yaan Fun Chong, Xiao Yu Ng, Shuang Ru Goh, Yueming Chen, Victor H K Yong, Muhammad Imran Khan, Olusola O Olawoye, Adeyinka O Ashaye, Idakwo Ugbede, Adeola Onakoya, Nkiru Kizor-Akaraiwe, Chaiwat Teekhasaenee, Yanin Suwan, Wasu Supakontanasan, Suhanya Okeke, Nkechi J Uche, Ifeoma Asimadu, Humaira Ayub, Farah Akhtar, Ewa Kosior-Jarecka, Urszula Lukasik, Ignacio Lischinsky, Vania Castro, Rodolfo Perez Grossmann, Gordana Sunaric Megevand, Sylvain Roy, Edward Dervan, Eoin Silke, Aparna Rao, Priti Sahay, Pablo Fornero, Osvaldo Cuello, Delia Sivori, Tamara Zompa, Richard A Mills, Emmanuelle Souzeau, Paul Mitchell, Jie Jin Wang, Alex W Hewitt, Michael Coote, Jonathan G Crowston, Sergei Y Astakhov, Eugeny L Akopov, Anton Emelyanov, Vera Vysochinskaya, Gyulli Kazakbaeva, Rinat Fayzrakhmanov, Saleh A Al-Obeidan, Ohoud Owaidhah, Leyla Ali Aljasim, Balram Chowbay, Jia Nee Foo, Raphael Q Soh, Kar Seng Sim, Zhicheng Xie, Augustine W O Cheong, Shi Qi Mok, Hui Meng Soo, Xiao Yin Chen, Su Qin Peh, Khai Koon Heng, Rahat Husain, Su-Ling Ho, Axel M Hillmer, Ching-Yu Cheng, Francisco A Escudero-Domínguez, Rogelio González-Sarmiento, Frederico Martinon-Torres, Antonio Salas, Kessara Pathanapitoon, Linda Hansapinyo, Boonsong Wanichwecharugruang, Naris Kitnarong, Anavaj Sakuntabhai, Hip X Nguyn, Giang T T Nguyn, Trình V Nguyn, Werner Zenz, Alexander Binder, Daniela S Klobassa, Martin L Hibberd, Sonia Davila, Stefan Herms, Markus M Nöthen, Susanne Moebus, Robyn M Rautenbach, Ari Ziskind, Trevor R Carmichael, Michele Ramsay, Lydia Álvarez, Montserrat García, Héctor González-Iglesias, Pedro P Rodríguez-Calvo, Luis Fernández-Vega Cueto, Çilingir Oguz, Nevbahar Tamcelik, Eray Atalay, Bilge Batu, Dilek Aktas, Burcu Kasım, M Roy Wilson, Anne L Coleman, Yutao Liu, Pratap Challa, Leon Herndon, Rachel W Kuchtey, John Kuchtey, Karen Curtin, Craig J Chaya, Alan Crandall, Linda M Zangwill, Tien Yin Wong, Masakazu Nakano, Shigeru Kinoshita, Anneke I den Hollander, Eija Vesti, John H Fingert, Richard K Lee, Arthur J Sit, Bradford J Shingleton, Ningli Wang, Daniele Cusi, Raheel Qamar, Peter Kraft, Margaret A Pericak-Vance, Soumya Raychaudhuri, Steffen Heegaard, Tero Kivelä, André Reis, Friedrich E Kruse, Robert N Weinreb, Louis R Pasquale, Jonathan L Haines, Unnur Thorsteinsdottir, Fridbert Jonasson, R Rand Allingham, Dan Milea, Robert Ritch, Toshiaki Kubota, Kei Tashiro, Eranga N Vithana, Shazia Micheal, Fotis Topouzis, Jamie E Craig, Michael Dubina, Periasamy Sundaresan, Kari Stefansson, Janey L Wiggs, Francesca Pasutto, Chiea Chuen Khor
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2...
May 29, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28541529/statistical-algorithms-improve-accuracy-of-gene-fusion-detection
#19
Gillian Hsieh, Rob Bierman, Linda Szabo, Alex Gia Lee, Donald E Freeman, Nathaniel Watson, E Alejandro Sweet-Cordero, Julia Salzman
Gene fusions are known to play critical roles in tumor pathogenesis. Yet, sensitive and specific algorithms to detect gene fusions in cancer do not currently exist. In this paper, we present a new statistical algorithm, MACHETE (Mismatched Alignment CHimEra Tracking Engine), which achieves highly sensitive and specific detection of gene fusions from RNA-Seq data, including the highest Positive Predictive Value (PPV) compared to the current state-of-the-art, as assessed in simulated data. We show that the best performing published algorithms either find large numbers of fusions in negative control data or suffer from low sensitivity detecting known driving fusions in gold standard settings, such as EWSR1-FLI1...
May 24, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28538136/genetic-and-pharmacologic-inactivation-of-angptl3-and-cardiovascular-disease
#20
Frederick E Dewey, Viktoria Gusarova, Richard L Dunbar, Colm O'Dushlaine, Claudia Schurmann, Omri Gottesman, Shane McCarthy, Cristopher V Van Hout, Shannon Bruse, Hayes M Dansky, Joseph B Leader, Michael F Murray, Marylyn D Ritchie, H Lester Kirchner, Lukas Habegger, Alex Lopez, John Penn, An Zhao, Weiping Shao, Neil Stahl, Andrew J Murphy, Sara Hamon, Aurelie Bouzelmat, Rick Zhang, Brad Shumel, Robert Pordy, Daniel Gipe, Gary A Herman, Wayne H H Sheu, I-Te Lee, Kae-Woei Liang, Xiuqing Guo, Jerome I Rotter, Yii-Der I Chen, William E Kraus, Svati H Shah, Scott Damrauer, Aeron Small, Daniel J Rader, Anders Berg Wulff, Børge G Nordestgaard, Anne Tybjærg-Hansen, Anita M van den Hoek, Hans M G Princen, David H Ledbetter, David J Carey, John D Overton, Jeffrey G Reid, William J Sasiela, Poulabi Banerjee, Alan R Shuldiner, Ingrid B Borecki, Tanya M Teslovich, George D Yancopoulos, Scott J Mellis, Jesper Gromada, Aris Baras
Background Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol. It is not known whether such variants or therapeutic antagonism of ANGPTL3 are associated with a reduced risk of atherosclerotic cardiovascular disease. Methods We sequenced the exons of ANGPTL3 in 58,335 participants in the DiscovEHR human genetics study. We performed tests of association for loss-of-function variants in ANGPTL3 with lipid levels and with coronary artery disease in 13,102 case patients and 40,430 controls from the DiscovEHR study, with follow-up studies involving 23,317 case patients and 107,166 controls from four population studies...
May 24, 2017: New England Journal of Medicine
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