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https://www.readbyqxmd.com/read/27889185/nup98-fusion-proteins-interact-with-the-nsl-and-mll1-complexes-to-drive-leukemogenesis
#1
Haiming Xu, Daria G Valerio, Meghan E Eisold, Amit Sinha, Richard P Koche, Wenhuo Hu, Chun-Wei Chen, S Haihua Chu, Gerard L Brien, Christopher Y Park, James J Hsieh, Patricia Ernst, Scott A Armstrong
The nucleoporin 98 gene (NUP98) is fused to a variety of partner genes in multiple hematopoietic malignancies. Here, we demonstrate that NUP98 fusion proteins, including NUP98-HOXA9 (NHA9), NUP98-HOXD13 (NHD13), NUP98-NSD1, NUP98-PHF23, and NUP98-TOP1 physically interact with mixed lineage leukemia 1 (MLL1) and the non-specific lethal (NSL) histone-modifying complexes. Chromatin immunoprecipitation sequencing illustrates that NHA9 and MLL1 co-localize on chromatin and are found associated with Hox gene promoter regions...
November 15, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27876822/a-principal-component-meta-analysis-on-multiple-anthropometric-traits-identifies-novel-loci-for-body-shape
#2
Janina S Ried, Janina Jeff M, Audrey Y Chu, Jennifer L Bragg-Gresham, Jenny van Dongen, Jennifer E Huffman, Tarunveer S Ahluwalia, Gemma Cadby, Niina Eklund, Joel Eriksson, Tõnu Esko, Mary F Feitosa, Anuj Goel, Mathias Gorski, Caroline Hayward, Nancy L Heard-Costa, Anne U Jackson, Eero Jokinen, Stavroula Kanoni, Kati Kristiansson, Zoltán Kutalik, Jari Lahti, Jian'an Luan, Reedik Mägi, Anubha Mahajan, Massimo Mangino, Carolina Medina-Gomez, Keri L Monda, Ilja M Nolte, Louis Pérusse, Inga Prokopenko, Lu Qi, Lynda M Rose, Erika Salvi, Megan T Smith, Harold Snieder, Alena Stančáková, Yun Ju Sung, Ioanna Tachmazidou, Alexander Teumer, Gudmar Thorleifsson, Pim van der Harst, Ryan W Walker, Sophie R Wang, Sarah H Wild, Sara M Willems, Andrew Wong, Weihua Zhang, Eva Albrecht, Alexessander Couto Alves, Stephan J L Bakker, Cristina Barlassina, Traci M Bartz, John Beilby, Claire Bellis, Richard N Bergman, Sven Bergmann, John Blangero, Matthias Blüher, Eric Boerwinkle, Lori L Bonnycastle, Stefan R Bornstein, Marcel Bruinenberg, Harry Campbell, Yii-Der Ida Chen, Charleston W K Chiang, Peter S Chines, Francis S Collins, Fracensco Cucca, L Adrienne Cupples, Francesca D'Avila, Eco J C de Geus, George Dedoussis, Maria Dimitriou, Angela Döring, Johan G Eriksson, Aliki-Eleni Farmaki, Martin Farrall, Teresa Ferreira, Krista Fischer, Nita G Forouhi, Nele Friedrich, Anette Prior Gjesing, Nicola Glorioso, Mariaelisa Graff, Harald Grallert, Niels Grarup, Jürgen Gräßler, Jagvir Grewal, Anders Hamsten, Marie Neergaard Harder, Catharina A Hartman, Maija Hassinen, Nicholas Hastie, Andrew Tym Hattersley, Aki S Havulinna, Markku Heliövaara, Hans Hillege, Albert Hofman, Oddgeir Holmen, Georg Homuth, Jouke-Jan Hottenga, Jennie Hui, Lise Lotte Husemoen, Pirro G Hysi, Aaron Isaacs, Till Ittermann, Shapour Jalilzadeh, Alan L James, Torben Jørgensen, Pekka Jousilahti, Antti Jula, Johanne Marie Justesen, Anne E Justice, Mika Kähönen, Maria Karaleftheri, Kay Tee Khaw, Sirkka M Keinanen-Kiukaanniemi, Leena Kinnunen, Paul B Knekt, Heikki A Koistinen, Ivana Kolcic, Ishminder K Kooner, Seppo Koskinen, Peter Kovacs, Theodosios Kyriakou, Tomi Laitinen, Claudia Langenberg, Alexandra M Lewin, Peter Lichtner, Cecilia M Lindgren, Jaana Lindström, Allan Linneberg, Roberto Lorbeer, Mattias Lorentzon, Robert Luben, Valeriya Lyssenko, Satu Männistö, Paolo Manunta, Irene Mateo Leach, Wendy L McArdle, Barbara Mcknight, Karen L Mohlke, Evelin Mihailov, Lili Milani, Rebecca Mills, May E Montasser, Andrew P Morris, Gabriele Müller, Arthur W Musk, Narisu Narisu, Ken K Ong, Ben A Oostra, Clive Osmond, Aarno Palotie, James S Pankow, Lavinia Paternoster, Brenda W Penninx, Irene Pichler, Maria G Pilia, Ozren Polašek, Peter P Pramstaller, Olli T Raitakari, Tuomo Rankinen, D C Rao, Nigel W Rayner, Rasmus Ribel-Madsen, Treva K Rice, Marcus Richards, Paul M Ridker, Fernando Rivadeneira, Kathy A Ryan, Serena Sanna, Mark A Sarzynski, Salome Scholtens, Robert A Scott, Sylvain Sebert, Lorraine Southam, Thomas Hempel Sparsø, Valgerdur Steinthorsdottir, Kathleen Stirrups, Ronald P Stolk, Konstantin Strauch, Heather M Stringham, Morris A Swertz, Amy J Swift, Anke Tönjes, Emmanouil Tsafantakis, Peter J van der Most, Jana V Van Vliet-Ostaptchouk, Liesbeth Vandenput, Erkki Vartiainen, Cristina Venturini, Niek Verweij, Jorma S Viikari, Veronique Vitart, Marie-Claude Vohl, Judith M Vonk, Gérard Waeber, Elisabeth Widén, Gonneke Willemsen, Tom Wilsgaard, Thomas W Winkler, Alan F Wright, Laura M Yerges-Armstrong, Jing Hua Zhao, M Carola Zillikens, Dorret I Boomsma, Claude Bouchard, John C Chambers, Daniel I Chasman, Daniele Cusi, Ron T Gansevoort, Christian Gieger, Torben Hansen, Andrew A Hicks, Frank Hu, Kristian Hveem, Marjo-Riitta Jarvelin, Eero Kajantie, Jaspal S Kooner, Diana Kuh, Johanna Kuusisto, Markku Laakso, Timo A Lakka, Terho Lehtimäki, Andres Metspalu, Inger Njølstad, Claes Ohlsson, Albertine J Oldehinkel, Lyle J Palmer, Oluf Pedersen, Markus Perola, Annette Peters, Bruce M Psaty, Hannu Puolijoki, Rainer Rauramaa, Igor Rudan, Veikko Salomaa, Peter E H Schwarz, Alan R Shudiner, Jan H Smit, Thorkild I A Sørensen, Timothy D Spector, Kari Stefansson, Michael Stumvoll, Angelo Tremblay, Jaakko Tuomilehto, André G Uitterlinden, Matti Uusitupa, Uwe Völker, Peter Vollenweider, Nicholas J Wareham, Hugh Watkins, James F Wilson, Eleftheria Zeggini, Goncalo R Abecasis, Michael Boehnke, Ingrid B Borecki, Panos Deloukas, Cornelia M van Duijn, Caroline Fox, Leif C Groop, Iris M Heid, David J Hunter, Robert C Kaplan, Mark I McCarthy, Kari E North, Jeffrey R O'Connell, David Schlessinger, Unnur Thorsteinsdottir, David P Strachan, Timothy Frayling, Joel N Hirschhorn, Martina Müller-Nurasyid, Ruth J F Loos
Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes...
November 23, 2016: Nature Communications
https://www.readbyqxmd.com/read/27834537/ptsd-confounds-detection-of-compromised-cerebral-white-matter-integrity-in-military-veterans-reporting-a-history-of-mild-traumatic-brain-injury
#3
Nicholas D Davenport, Greg J Lamberty, Nathaniel W Nelson, Kelvin O Lim, Michael T Armstrong, Scott R Sponheim
PRIMARY OBJECTIVE: Based on high comorbidity between mild traumatic brain injury (mTBI) and post-traumatic stress disorder (PTSD) among deployed military service members, this study tested the hypothesis that the presence of PTSD disrupts the association between mTBI and lower white matter integrity identified in non-military samples. Research design/Methods and procedures: In a sample of 124 recent veterans with a range of mTBI and PTSD history, diffusion tensor imaging (DTI) metrics of white matter integrity in 20 regions were compared using multiple mTBI and PTSD contrasts...
2016: Brain Injury: [BI]
https://www.readbyqxmd.com/read/27829101/clinical-features-associated-with-individuals-at-higher-risk-of-melanoma-a-population-based-study
#4
Caroline G Watts, Christine Madronio, Rachael L Morton, Chris Goumas, Bruce K Armstrong, Austin Curtin, Scott W Menzies, Graham J Mann, John F Thompson, Anne E Cust
Importance: The identification of a subgroup at higher risk of melanoma may assist in early diagnosis. Objective: To characterize melanoma patients and the clinical features associated with their melanomas according to patient risk factors: many nevi, history of previous melanoma, and family history of melanoma, to assist with improving the identification and treatment of a higher-risk subgroup. Design, Setting, and Participants: The Melanoma Patterns of Care study was a population-based observational study of physicians' reported treatment of 2727 patients diagnosed with an in situ or invasive primary melanoma over a 12-month period from October 2006 to 2007 conducted in New South Wales...
November 9, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27827827/histone-acetyltransferase-activity-of-mof-is-required-for-adult-but-not-early-fetal-hematopoiesis-in-mice
#5
Daria G Valerio, Haiming Xu, Meghan E Eisold, Carolien M Woolthuis, Tej K Pandita, Scott A Armstrong
K(Lysine) Acetyltransferase 8 (KAT8, also known as MOF) is a histone 4 lysine 16 (H4K16) acetyltransferase and crucial for murine embryogenesis. Lysine acetyltransferases have been shown to regulate various stages of normal hematopoiesis. However, the function of Mof in hematopoietic stem cell (HSC) development has not yet been elucidated. We set out to study the role of MOF in general hematopoiesis by using a Vav1-cre induced conditional murine Mof knockout system, and found that MOF is critical for hematopoietic cell maintenance and HSC engraftment capacity in adult hematopoiesis...
November 8, 2016: Blood
https://www.readbyqxmd.com/read/27827825/controlled-stem-cell-amplification-by-hoxb4-depends-on-its-unique-proline-rich-region-near-the-n-terminus
#6
Monica Cusan, Naidu M Vegi, Medhanie A Mulaw, Shiva Bamezai, Lisa M Kaiser, Aniruddha J Deshpande, Philipp A Greif, Leticia Quintanilla-Fend, Stefanie Göllner, Carsten Müller-Tidow, Keith R Humphries, Scott A Armstrong, Wolfgang Hiddemann, Michaela Feuring-Buske, Christian Buske
There is high interest to understand mechanisms driving self-renewal of stem cells. HOXB4 is one of the few transcription factors able to amplify long-term repopulating hematopoietic stem cells in a controlled way. Here we show in mice that this characteristic of HOXB4 depends on proline-rich sequence near the N-terminus, which is unique among HOX genes and highly conserved in higher mammals. Deletion of this domain substantially enhanced the oncogenicity of HOXB4, inducing acute leukemia in mice. Vice versa, insertion of the domain into Hoxa9 impaired leukemogenicity of this homeobox gene...
November 8, 2016: Blood
https://www.readbyqxmd.com/read/27697776/aacr-cancer-progress-report-2016
#7
Nancy E Davidson, Scott A Armstrong, Lisa M Coussens, Marcia R Cruz-Correa, Ralph J DeBerardinis, James H Doroshow, Margaret Foti, Patrick Hwu, Thomas W Kensler, Monica Morrow, Charles G Mulligan, William Pao, Elizabeth A Platz, Thomas J Smith, Cheryl L Willman
No abstract text is available yet for this article.
October 1, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27625305/targeting-the-kinase-activities-of-atr-and-atm-exhibits-antitumoral-activity-in-mouse-models-of-mll-rearranged-aml
#8
Isabel Morgado-Palacin, Amanda Day, Matilde Murga, Vanesa Lafarga, Marta Elena Anton, Anthony Tubbs, Hua-Tang Chen, Aysegul Ergan, Rhonda Anderson, Avinash Bhandoola, Kurt G Pike, Bernard Barlaam, Elaine Cadogan, Xi Wang, Andrew J Pierce, Chad Hubbard, Scott A Armstrong, André Nussenzweig, Oscar Fernandez-Capetillo
Among the various subtypes of acute myeloid leukemia (AML), those with chromosomal rearrangements of the MLL oncogene (AML-MLL) have a poor prognosis. AML-MLL tumor cells are resistant to current genotoxic therapies because of an attenuated response by p53, a protein that induces cell cycle arrest and apoptosis in response to DNA damage. In addition to chemicals that damage DNA, efforts have focused on targeting DNA repair enzymes as a general chemotherapeutic approach to cancer treatment. Here, we found that inhibition of the kinase ATR, which is the primary sensor of DNA replication stress, induced chromosomal breakage and death of mouse AML(MLL) cells (with an MLL-ENL fusion and a constitutively active N-RAS independently of p53...
September 13, 2016: Science Signaling
https://www.readbyqxmd.com/read/27535106/targeting-chromatin-regulators-inhibits-leukemogenic-gene-expression-in-npm1-mutant-leukemia
#9
Michael W M Kühn, Evelyn Song, Zhaohui Feng, Amit Sinha, Chun-Wei Chen, Aniruddha J Deshpande, Monica Cusan, Noushin Farnoud, Annalisa Mupo, Carolyn Grove, Richard Koche, James E Bradner, Elisa de Stanchina, George S Vassiliou, Takayuki Hoshii, Scott A Armstrong
: Homeobox (HOX) proteins and the receptor tyrosine kinase FLT3 are frequently highly expressed and mutated in acute myeloid leukemia (AML). Aberrant HOX expression is found in nearly all AMLs that harbor a mutation in the Nucleophosmin (NPM1) gene, and FLT3 is concomitantly mutated in approximately 60% of these cases. Little is known about how mutant NPM1 (NPM1(mut)) cells maintain aberrant gene expression. Here, we demonstrate that the histone modifiers MLL1 and DOT1L control HOX and FLT3 expression and differentiation in NPM1(mut) AML...
October 2016: Cancer Discovery
https://www.readbyqxmd.com/read/27491780/forward-genetic-screen-of-human-transposase-genomic-rearrangements
#10
Anton G Henssen, Eileen Jiang, Jiali Zhuang, Luca Pinello, Nicholas D Socci, Richard Koche, Mithat Gonen, Camila M Villasante, Scott A Armstrong, Daniel E Bauer, Zhiping Weng, Alex Kentsis
BACKGROUND: Numerous human genes encode potentially active DNA transposases or recombinases, but our understanding of their functions remains limited due to shortage of methods to profile their activities on endogenous genomic substrates. RESULTS: To enable functional analysis of human transposase-derived genes, we combined forward chemical genetic hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) screening with massively parallel paired-end DNA sequencing and structural variant genome assembly and analysis...
2016: BMC Genomics
https://www.readbyqxmd.com/read/27484945/evaluating-laser-driven-bremsstrahlung-radiation-sources-for-imaging-and-analysis-of-nuclear-waste-packages
#11
Christopher P Jones, Ceri M Brenner, Camilla A Stitt, Chris Armstrong, Dean R Rusby, Seyed R Mirfayzi, Lucy A Wilson, Aarón Alejo, Hamad Ahmed, Ric Allott, Nicholas M H Butler, Robert J Clarke, David Haddock, Cristina Hernandez-Gomez, Adam Higginson, Christopher Murphy, Margaret Notley, Charilaos Paraskevoulakos, John Jowsey, Paul McKenna, David Neely, Satya Kar, Thomas B Scott
A small scale sample nuclear waste package, consisting of a 28mm diameter uranium penny encased in grout, was imaged by absorption contrast radiography using a single pulse exposure from an X-ray source driven by a high-power laser. The Vulcan laser was used to deliver a focused pulse of photons to a tantalum foil, in order to generate a bright burst of highly penetrating X-rays (with energy >500keV), with a source size of <0.5mm. BAS-TR and BAS-SR image plates were used for image capture, alongside a newly developed Thalium doped Caesium Iodide scintillator-based detector coupled to CCD chips...
November 15, 2016: Journal of Hazardous Materials
https://www.readbyqxmd.com/read/27477217/diagnosis-and-clinical-management-of-melanoma-patients-at-higher-risk-of-a-new-primary-melanoma-a-population-based-study-in-new-south-wales-australia
#12
Caroline G Watts, Christine M Madronio, Rachael L Morton, Chris Goumas, Bruce K Armstrong, Austin Curtin, Scott W Menzies, Graham J Mann, John F Thompson, Anne E Cust
BACKGROUND/OBJECTIVES: To describe the method of diagnosis, clinical management and adherence to clinical practice guidelines for melanoma patients at high risk of a subsequent primary melanoma, and compare this with melanoma patients at lower risk. METHODS: The Melanoma Patterns of Care study was a population-based, observational study based on doctors' reported clinical management of melanoma patients in New South Wales, Australia, diagnosed with in situ or invasive melanoma over a 12-month period from October 2006...
August 1, 2016: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/27471206/high-attenuation-areas-on-chest-computed-tomography-in-community-dwelling-adults-the-mesa-study
#13
Anna J Podolanczuk, Elizabeth C Oelsner, R Graham Barr, Eric A Hoffman, Hilary F Armstrong, John H M Austin, Robert C Basner, Matthew N Bartels, Jason D Christie, Paul L Enright, Bernadette R Gochuico, Karen Hinckley Stukovsky, Joel D Kaufman, P Hrudaya Nath, John D Newell, Scott M Palmer, Dan Rabinowitz, Ganesh Raghu, Jessica L Sell, Jered Sieren, Sushil K Sonavane, Russell P Tracy, Jubal R Watts, Kayleen Williams, Steven M Kawut, David J Lederer
Evidence suggests that lung injury, inflammation and extracellular matrix remodelling precede lung fibrosis in interstitial lung disease (ILD). We examined whether a quantitative measure of increased lung attenuation on computed tomography (CT) detects lung injury, inflammation and extracellular matrix remodelling in community-dwelling adults sampled without regard to respiratory symptoms or smoking.We measured high attenuation areas (HAA; percentage of lung voxels between -600 and -250 Hounsfield Units) on cardiac CT scans of adults enrolled in the Multi-Ethnic Study of Atherosclerosis...
November 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27359466/parents-knowledge-attitudes-and-behaviors-related-to-beverage-consumption-at-children-s-sport-events-211-board-48-june-1-9-30-am-11-00-am
#14
Nicole D Bolter, Yong Gao, Kristin Armstrong, Scott A Conger, Stacy Beeson, Hilary Flint-Wagner
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/27270779/erratum-modulation-of-splicing-catalysis-for-therapeutic-targeting-of-leukemia-with-mutations-in-genes-encoding-spliceosomal-proteins
#15
Stanley Chun-Wei Lee, Heidi Dvinge, Eunhee Kim, Hana Cho, Jean-Baptiste Micol, Young Rock Chung, Benjamin H Durham, Akihide Yoshimi, Young Joon Kim, Michael Thomas, Camille Lobry, Chun-Wei Chen, Alessandro Pastore, Justin Taylor, Xujun Wang, Andrei Krivtsov, Scott A Armstrong, James Palacino, Silvia Buonamici, Peter G Smith, Robert K Bradley, Omar Abdel-Wahab
No abstract text is available yet for this article.
June 7, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27270773/reply-to-uveal-melanoma-cells-are-resistant-to-ezh2-inhibition-regardless-of-bap1-status
#16
Lindsay M LaFave, Wendy Béguelin, Richard Koche, Matt Teater, Barbara Spitzer, Alan Chramiec, Efthymia Papalexi, Matthew D Keller, Todd Hricik, Katerina Konstantinoff, Jean-Baptiste Micol, Benjamin Durham, Sarah K Knutson, John E Campbell, Gil Blum, Xinxu Shi, Emma H Doud, Andrei V Krivtsov, Young Rock Chung, Inna Khodos, Elisa de Stanchina, Ouathek Ouerfelli, Prasad S Adusumilli, Paul M Thomas, Neil L Kelleher, Minkui Luo, Heike Keilhack, Omar Abdel-Wahab, Ari Melnick, Scott A Armstrong, Ross L Levine
No abstract text is available yet for this article.
June 7, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27151433/the-role-of-dot1l-in-the-maintenance-of-leukemia-gene-expression
#17
REVIEW
Xi Wang, Chun-Wei Chen, Scott A Armstrong
Chromatin based (Epigenetic) mechanisms have been shown to play important roles in the regulation of gene expression during tumorigenesis and development. Mouse modeling suggests the methyltransferase DOT1L as a potential therapeutic target for MLL-rearranged leukemia. Epigenomic profiling indicates an abnormal H3K79me2 pattern on MLL-fusion targeted genes, but the molecular mechanism underlying this epigenetic dependency is not well understood. In this review, we will discuss recent advances in understanding the epigenetic mechanisms governed by DOT1L in the maintenance of gene expression...
February 2016: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/27135740/modulation-of-splicing-catalysis-for-therapeutic-targeting-of-leukemia-with-mutations-in-genes-encoding-spliceosomal-proteins
#18
Stanley Chun-Wei Lee, Heidi Dvinge, Eunhee Kim, Hana Cho, Jean-Baptiste Micol, Young Rock Chung, Benjamin H Durham, Akihide Yoshimi, Young Joon Kim, Michael Thomas, Camille Lobry, Chun-Wei Chen, Alessandro Pastore, Justin Taylor, Xujun Wang, Andrei Krivtsov, Scott A Armstrong, James Palacino, Silvia Buonamici, Peter G Smith, Robert K Bradley, Omar Abdel-Wahab
Mutations in genes encoding splicing factors (which we refer to as spliceosomal genes) are commonly found in patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). These mutations recurrently affect specific amino acid residues, leading to perturbed normal splice site and exon recognition. Spliceosomal gene mutations are always heterozygous and rarely occur together with one another, suggesting that cells may tolerate only a partial deviation from normal splicing activity. To test this hypothesis, we engineered mice to express a mutated allele of serine/arginine-rich splicing factor 2 (Srsf2(P95H))-which commonly occurs in individuals with MDS and AML-in an inducible, hemizygous manner in hematopoietic cells...
June 2016: Nature Medicine
https://www.readbyqxmd.com/read/27090400/a-mixed-methods-study-of-the-causes-and-impact-of-poor-teamwork-between-junior-doctors-and-nurses
#19
Paul O'connor, Angela O'dea, Sinéad Lydon, Gozie Offiah, Jennifer Scott, Antoinette Flannery, Bronagh Lang, Anthony Hoban, Catherine Armstrong, Dara Byrne
OBJECTIVES: This study aimed to collect and analyse examples of poor teamwork between junior doctors and nurses; identify the teamwork failures contributing to poor team function; and ascertain if particular teamwork failures are associated with higher levels of risk to patients. DESIGN: Critical Incident Technique interviews were carried out with junior doctors and nurses. SETTING: Two teaching hospitals in the Republic of Ireland. PARTICIPANTS: Junior doctors (n = 28) and nurses (n = 8) provided descriptions of scenarios of poor teamwork...
June 2016: International Journal for Quality in Health Care
https://www.readbyqxmd.com/read/27087319/point-mutations-in-exon-1b-of-apc-reveal-gastric-adenocarcinoma-and-proximal-polyposis-of-the-stomach-as-a-familial-adenomatous-polyposis-variant
#20
Jun Li, Susan L Woods, Sue Healey, Jonathan Beesley, Xiaoqing Chen, Jason S Lee, Haran Sivakumaran, Nicci Wayte, Katia Nones, Joshua J Waterfall, John Pearson, Anne-Marie Patch, Janine Senz, Manuel A Ferreira, Pardeep Kaurah, Robertson Mackenzie, Alireza Heravi-Moussavi, Samantha Hansford, Tamsin R M Lannagan, Amanda B Spurdle, Peter T Simpson, Leonard da Silva, Sunil R Lakhani, Andrew D Clouston, Mark Bettington, Florian Grimpen, Rita A Busuttil, Natasha Di Costanzo, Alex Boussioutas, Marie Jeanjean, George Chong, Aurélie Fabre, Sylviane Olschwang, Geoffrey J Faulkner, Evangelos Bellos, Lachlan Coin, Kevin Rioux, Oliver F Bathe, Xiaogang Wen, Hilary C Martin, Deborah W Neklason, Sean R Davis, Robert L Walker, Kathleen A Calzone, Itzhak Avital, Theo Heller, Christopher Koh, Marbin Pineda, Udo Rudloff, Martha Quezado, Pavel N Pichurin, Peter J Hulick, Scott M Weissman, Anna Newlin, Wendy S Rubinstein, Jone E Sampson, Kelly Hamman, David Goldgar, Nicola Poplawski, Kerry Phillips, Lyn Schofield, Jacqueline Armstrong, Cathy Kiraly-Borri, Graeme K Suthers, David G Huntsman, William D Foulkes, Fatima Carneiro, Noralane M Lindor, Stacey L Edwards, Juliet D French, Nicola Waddell, Paul S Meltzer, Daniel L Worthley, Kasmintan A Schrader, Georgia Chenevix-Trench
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 and found loss of the wild-type allele on 5q in fundic gland polyps from affected individuals. Whole-exome and -genome sequencing failed to find causal mutations but, through Sanger sequencing, we identified point mutations in APC promoter 1B that co-segregated with disease in all six families...
May 5, 2016: American Journal of Human Genetics
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