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https://www.readbyqxmd.com/read/28216023/immunogenicity-of-structurally-perturbed-hen-egg-lysozyme-adsorbed-to-silicone-oil-microdroplets-in-wild-type-and-transgenic-mouse-models
#1
Carly Fleagle Chisholm, Kaitlin R Soucie, Jane S Song, Pamela Strauch, Raul M Torres, John F Carpenter, Jack A Ragheb, Theodore W Randolph
Silicone oil microdroplets may act as adjuvants, promoting unwanted immune responses against both foreign and self-proteins. Proteins often unfold upon adsorption to silicone oil microdroplets, but it is unclear how such unfolding might affect the immune response. In this study, we found that hen egg lysozyme (HEL) readily adsorbed to silicone oil microdroplets and perturbed the conformation of HEL. We compared the immune response to injections of HEL formulated in the presence and absence of silicone oil microdroplets in both wild-type mice and transgenic littermates that express a soluble form of HEL (sHEL), thus rendering them immunologically tolerant to this nominal self-antigen...
February 16, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28187293/assessing-the-contributions-of-childhood-maltreatment-subtypes-and-depression-case-control-status-on-telomere-length-reveals-a-specific-role-of-physical-neglect
#2
John Vincent, Iiris Hovatta, Souci Frissa, Laura Goodwin, Matthew Hotopf, Stephani L Hatch, Gerome Breen, Timothy R Powell
BACKGROUND: Studies have provided evidence that both childhood maltreatment and depressive disorders are associated with shortened telomere lengths. However, as childhood maltreatment is a risk factor for depression, it remains unclear whether this may be driving shortened telomere lengths observed amongst depressed patients. Furthermore, it's unclear if the effects of maltreatment on telomere length shortening are more pervasive amongst depressed patients relative to controls, and consequently whether biological ageing may contribute to depression's pathophysiology...
February 3, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28183693/prophylaxis-usage-bleeding-rates-and-joint-outcomes-of-hemophilia-1999-2010-a-surveillance-project
#3
Marilyn J Manco-Johnson, J Michael Soucie, Joan C Gill
This analysis of the United States Hemophilia Treatment Center Network and the Centers for Disease Control and Prevention surveillance registry assessed trends in prophylaxis use and its impact on key indicators of arthropathy across the life span among participants with severe hemophilia A. Data on demographics, clinical characteristics and outcomes were collected prospectively between 1999 and 2010 at annual clinical visits to 134 hemophilia treatment centers. Trends in treatment and outcomes were evaluated using cross-sectional and longitudinal analyses...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/28175304/sex-dependent-effects-of-chromogranin-b-p413l-allelic-variant-as-disease-modifier-in-amyotrophic-lateral-sclerosis
#4
Yasuyuki Ohta, Genevieve Soucy, Daniel Phaneuf, Jean-Nicolas Audet, François Gros-Louis, Guy A Rouleau, Hélène Blasco, Philippe Corcia, Peter M Andersen, Frida Nordin, Toru Yamashita, Koji Abe, Jean-Pierre Julien
No abstract text is available yet for this article.
November 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28172431/vexor-an-integrative-environment-for-prioritization-of-functional-variants-in-fine-mapping-analysis
#5
Audrey Lemaçon, Charles Joly Beauparlant, Penny Soucy, Jamie Allen, Douglas Easton, Peter Kraft, Jacques Simard, Arnaud Droit
No abstract text is available yet for this article.
January 5, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28168379/continuous-flow-left-ventricular-assist-device-support-improves-myocardial-supply-demand-in-chronic-heart-failure
#6
Kevin G Soucy, Carlo R Bartoli, Dustin Phillips, Guruprasad A Giridharan, Michael A Sobieski, William B Wead, Robert D Dowling, Zhongjun J Wu, Sumanth D Prabhu, Mark S Slaughter, Steven C Koenig
Continuous-flow left ventricular assist devices (CF LVADs) are rotary blood pumps that improve mean blood flow, but with potential limitations of non-physiological ventricular volume unloading and diminished vascular pulsatility. In this study, we tested the hypothesis that left ventricular unloading with increasing CF LVAD flow increases myocardial flow normalized to left ventricular work. Healthy (n = 8) and chronic ischemic heart failure (IHF, n = 7) calves were implanted with CF LVADs. Acute hemodynamics and regional myocardial blood flow were measured during baseline (LVAD off, clamped), partial (2-4 L/min) and full (>4 L/min) LVAD support...
February 6, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/28145075/biomarkers-designs-and-interpretations-of-resting-state-fmri-in-translational-pharmacological-research-a-review-of-state-of-the-art-challenges-and-opportunities-for-studying-brain-chemistry
#7
REVIEW
Najmeh Khalili-Mahani, Serge A R B Rombouts, Matthias J P van Osch, Eugene P Duff, Felix Carbonell, Lisa D Nickerson, Lino Becerra, Albert Dahan, Alan C Evans, Jean-Paul Soucy, Richard Wise, Alex P Zijdenbos, Joop M van Gerven
A decade of research and development in resting-state functional MRI (RSfMRI) has opened new translational and clinical research frontiers. This review aims to bridge between technical and clinical researchers who seek reliable neuroimaging biomarkers for studying drug interactions with the brain. About 85 pharma-RSfMRI studies using BOLD signal (75% of all) or arterial spin labeling (ASL) were surveyed to investigate the acute effects of psychoactive drugs. Experimental designs and objectives include drug fingerprinting dose-response evaluation, biomarker validation and calibration, and translational studies...
February 1, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28139931/design-of-a-janus-kinase-3-jak3-specific-inhibitor-1-2s-5r-5-7h-pyrrolo-2-3-d-pyrimidin-4-yl-amino-2-methylpiperidin-1-yl-prop-2-en-1-one-pf-06651600-allowing-for-the-interrogation-of-jak3-signaling-in-humans
#8
Atli Thorarensen, Martin E Dowty, Mary Ellen Banker, Brian Juba, Jason Jussif, Tsung Lin, Fabien Vincent, Robert M Czerwinski, Agustin Casimiro-Garcia, Ray Unwalla, John I Trujillo, Sidney Liang, Paul Balbo, Ye Che, Adam M Gilbert, Matthew F Brown, Matthew Hayward, Justin Montgomery, Louis Leung, Xin Yang, Sarah Soucy, Martin Hegen, Jotham Coe, Jonathan Langille, Felix Vajdos, Jill Chrencik, Jean-Baptiste Telliez
Significant work has been dedicated to the discovery of JAK kinase inhibitors resulting in several compounds entering clinical development and two FDA approved NMEs. However, despite significant effort during the past 2 decades, identification of highly selective JAK3 inhibitors has eluded the scientific community. A significant effort within our research organization has resulted in the identification of the first orally active JAK3 specific inhibitor, which achieves JAK isoform specificity through covalent interaction with a unique JAK3 residue Cys-909...
February 16, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28112915/bubble-facilitated-voc-transport-from-lnapl-smear-zones-and-its-potential-effect-on-vapor-intrusion
#9
Nicole C Soucy, Kevin G Mumford
Most conceptual and mathematical models of soil vapor intrusion assume that the transport of volatile organic compounds (VOCs) from a source toward a building is limited by diffusion through the soil gas. Under conditions where advection occurs, transport rates are higher and can lead to higher indoor air concentrations. Advection-dominated conditions can be created by gas bubble flow in the saturated zone. A series of laboratory column experiments were conducted to measure mass flux due to bubble-facilitated VOC transport from light nonaqueous phase liquid (LNAPL) smear zones...
February 10, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28038410/development-of-11-c-kits-for-a-fast-efficient-and-reliable-production-of-carbon-11-labeled-radiopharmaceuticals-for-positron-emission-tomography
#10
Dean Jolly, Robert Hopewell, Miriam Kovacevic, Qian Ying Li, Jean-Paul Soucy, Alexey Kostikov
Translation of carbon-11 labeled PET tracers to clinical settings is currently impeded by the technical difficulties associated with [(11)C]CO2 conversion into the highly reactive methylating agents [(11)C]CH3I and [(11)C]CH3OTf using automated modules relying on stationary valves. Here we describe development of the first in its kind "[(11)C]kit" for production of carbon-11 radiotracer using disposable manifolds. This method proved to be very reliable and allows for consecutive production of PET tracers with minimal intervals between the syntheses...
March 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/28024995/synergistic-interaction-between-amyloid-and-tau-predicts-the-progression%C3%A2-to-dementia
#11
Tharick A Pascoal, Sulantha Mathotaarachchi, Monica Shin, Andrea L Benedet, Sara Mohades, Seqian Wang, Tom Beaudry, Min Su Kang, Jean-Paul Soucy, Aurelie Labbe, Serge Gauthier, Pedro Rosa-Neto
INTRODUCTION: Recent literature proposes that amyloid-β and phosphorylated tau (p-tau) synergism accelerates biomarker abnormalities in controls. Yet, it remains to be answered whether this synergism is the driving force behind Alzheimer disease (AD) dementia. METHODS: We stratified 314 mild cognitive impairment individuals using [(18)F]florbetapir positron emission tomography amyloid-β imaging and cerebrospinal fluid p-tau. Regression and voxel-based logistic regression models with interaction terms evaluated 2-year changes in cognition and clinical status as a function of baseline biomarkers...
December 23, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/27928881/measuring-the-quality-of-haemophilia-care-across-different-settings-a-set-of-performance-indicators-derived-from-demographics-data
#12
A Iorio, J S Stonebraker, M Brooker, J M Soucie
BACKGROUND: Haemophilia is a rare disease for which quality of care varies around the world. We propose data-driven indicators as surrogate measures for the provision of haemophilia care across countries and over time. MATERIALS AND METHODS: The guiding criteria for selection of possible indicators were ease of calculation and direct applicability to a wide range of countries with basic data collection capacities. General population epidemiological data and haemophilia A population data from the World Federation of Hemophilia (WFH) Annual Global Survey (AGS) for the years 2013 and 2010 in a sample of 10 countries were used for this pilot exercise...
January 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27923182/sociodemographic-lifestyle-and-psychosocial-determinants-of-hair-cortisol-in-a-south-london-community-sample
#13
Susanne Fischer, Roman Duncko, Stephani L Hatch, Andrew Papadopoulos, Laura Goodwin, Souci Frissa, Matthew Hotopf, Anthony J Cleare
OBJECTIVE: Hypothalamic-pituitary-adrenal (HPA) measures are crucial for research into stress and stress-related disorders. Most HPA measures fluctuate depending on diurnal rhythms and state confounders. Hair cortisol concentrations (HCC) are less susceptible to such fluctuations, but less is known about trait-like confounders. Using a community sample, we tested the relationship between HCC and a range of variables including demographic variables, hair treatment, and medication, as well as psychosocial variables, namely childhood trauma, critical life events, and depressive symptoms...
February 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/27836010/inheritance-of-deleterious-mutations-at-both-brca1-and-brca2-in-an-international-sample-of-32-295-women
#14
Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale, Javier Benitez, Raanan Berger, Pascaline Berthet, Ake Borg, Saundra S Buys, Trinidad Caldes, Jonathan Carter, Jocelyne Chiquette, Kathleen B M Claes, Fergus J Couch, Cezary Cybulski, Mary B Daly, Miguel de la Hoya, Orland Diez, Susan M Domchek, Katherine L Nathanson, Katarzyna Durda, Steve Ellis, D Gareth Evans, Lenka Foretova, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Eric Hahnen, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Evgeny N Imyanitov, Claudine Isaacs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Esther M John, Beth Y Karlan, Bella Kaufman, KConFab Investigators, Ava Kwong, Yael Laitman, Christine Lasset, Conxi Lazaro, Jenny Lester, Niklas Loman, Jan Lubinski, Siranoush Manoukian, Gillian Mitchell, Marco Montagna, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Sue Kyung Park, Marion Piedmonte, Paolo Radice, Christine Rappaport-Fuerhauser, Matti A Rookus, Caroline Seynaeve, Jacques Simard, Christian F Singer, Penny Soucy, Melissa Southey, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Csilla I Szabo, Mariella Tancredi, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Amanda Ewart Toland, Aleksandra Toloczko-Grabarek, Nadine Tung, Elizabeth J van Rensburg, Danylo Villano, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N Weitzel, Jamal Zidan, Kristin K Zorn, Lesley McGuffog, Douglas Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Susan J Ramus
BACKGROUND: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. METHODS: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case"...
November 11, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27813214/complications-of-haemophilia-in-babies-first-two-years-of-life-a-report-from-the-centers-for-disease-control-and-prevention-universal-data-collection-system
#15
R Kulkarni, R J Presley, J M Lusher, A D Shapiro, J C Gill, M Manco-Johnson, M A Koerper, T C Abshire, D DiMichele, W K Hoots, P Mathew, D J Nugent, S Geraghty, B L Evatt, J M Soucie
AIM: To describe the prevalence and complications in babies ≤2 years with haemophilia. METHODS: We used a standardized collection tool to obtain consented data on eligible babies aged ≤2 years with haemophilia enrolled in the Centers for Disease Control and Prevention Universal Data Collection System surveillance project at US Hemophilia Treatment Centers (HTCs). RESULTS: Of 547 babies, 82% had haemophilia A, and 70% were diagnosed within one month of birth...
November 4, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27796716/association-of-breast-cancer-risk-in-brca1-and-brca2-mutation-carriers-with-genetic-variants-showing-differential-allelic-expression-identification-of-a-modifier-of-breast-cancer-risk-at-locus-11q22-3
#16
Yosr Hamdi, Penny Soucy, Karoline B Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Audrey Lemaçon, Julian Adlard, Kristiina Aittomäki, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Jacopo Azzollini, Anita Bane, Laure Barjhoux, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Marinus J Blok, Kristie Bobolis, Valérie Bonadona, Bernardo Bonanni, Angela R Bradbury, Carole Brewer, Bruno Buecher, Saundra S Buys, Maria A Caligo, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Miguel De la Hoya, Kim De Leeneer, Orland Diez, Yuan Chun Ding, Riccardo Dolcetti, Susan M Domchek, Cecilia M Dorfling, Diana Eccles, Ros Eeles, Zakaria Einbeigi, Bent Ejlertsen, Christoph Engel, D Gareth Evans, Lidia Feliubadalo, Lenka Foretova, Florentia Fostira, William D Foulkes, George Fountzilas, Eitan Friedman, Debra Frost, Pamela Ganschow, Patricia A Ganz, Judy Garber, Simon A Gayther, Anne-Marie Gerdes, Gord Glendon, Andrew K Godwin, David E Goldgar, Mark H Greene, Jacek Gronwald, Eric Hahnen, Ute Hamann, Thomas V O Hansen, Steven Hart, John L Hays, Frans B L Hogervorst, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M John, Vijai Joseph, Walter Just, Katarzyna Kaczmarek, Beth Y Karlan, Carolien M Kets, Judy Kirk, Mieke Kriege, Yael Laitman, Maïté Laurent, Conxi Lazaro, Goska Leslie, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Niklas Loman, Jennifer T Loud, Siranoush Manoukian, Milena Mariani, Sylvie Mazoyer, Lesley McGuffog, Hanne E J Meijers-Heijboer, Alfons Meindl, Austin Miller, Marco Montagna, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Robert L Nussbaum, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Jan C Oosterwijk, Ana Osorio, Laura Papi, Sue Kyung Park, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez Segura, Paolo Peterlongo, Catherine M Phelan, Paolo Radice, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Andrea Richardson, Mark Robson, Gustavo C Rodriguez, Matti A Rookus, Rita Katharina Schmutzler, Nicolas Sevenet, Payal D Shah, Christian F Singer, Thomas P Slavin, Katie Snape, Johanna Sokolowska, Ida Marie Heeholm Sønderstrup, Melissa Southey, Amanda B Spurdle, Zsofia Stadler, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Yen Tan, Muy-Kheng Tea, Manuel R Teixeira, Alex Teulé, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Nadine Tung, Ans M W van den Ouweland, Rob B van der Luijt, Klaartje van Engelen, Elizabeth J van Rensburg, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Juul T Wijnen, Timothy Rebbeck, Georgia Chenevix-Trench, Kenneth Offit, Fergus J Couch, Silje Nord, Douglas F Easton, Antonis C Antoniou, Jacques Simard
PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2...
January 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27792995/association-of-breast-cancer-risk-with-genetic-variants-showing-differential-allelic-expression-identification-of-a-novel-breast-cancer-susceptibility-locus-at-4q21
#17
Yosr Hamdi, Penny Soucy, Véronique Adoue, Kyriaki Michailidou, Sander Canisius, Audrey Lemaçon, Arnaud Droit, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Caroline Baynes, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Borresen-Dale, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Barbara Burwinkel, Jenny Chang-Claude, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Hatef Darabi, Joe Dennis, Peter Devilee, Thilo Dörk, Isabel Dos-Santos-Silva, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Montserrat García-Closas, Graham G Giles, Mark S Goldberg, Anna González-Neira, Grethe Grenaker-Alnæs, Pascal Guénel, Lothar Haeberle, Christopher A Haiman, Ute Hamann, Emily Hallberg, Maartje J Hooning, John L Hopper, Anna Jakubowska, Michael Jones, Maria Kabisch, Vesa Kataja, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Jan Lubinski, Arto Mannermaa, Mel Maranian, Sara Margolin, Frederik Marme, Roger L Milne, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, Curtis Olswold, Julian Peto, Dijana Plaseska-Karanfilska, Katri Pylkäs, Paolo Radice, Anja Rudolph, Elinor J Sawyer, Marjanka K Schmidt, Xiao-Ou Shu, Melissa C Southey, Anthony Swerdlow, Rob A E M Tollenaar, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine Vachon, Ans M W Van Den Ouweland, Qin Wang, Robert Winqvist, Wei Zheng, Javier Benitez, Georgia Chenevix-Trench, Alison M Dunning, Paul D P Pharoah, Vessela Kristensen, Per Hall, Douglas F Easton, Tomi Pastinen, Silje Nord, Jacques Simard
There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms...
December 6, 2016: Oncotarget
https://www.readbyqxmd.com/read/27780579/intra-aortic-balloon-pumps-and-continuous-flow-left-ventricular-assist-devices-don-t-let-balloon-pumps-overstay-their-welcome
#18
EDITORIAL
Kevin G Soucy, Steven C Koenig, Mark S Slaughter
No abstract text is available yet for this article.
January 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27697780/the-oncoarray-consortium-a-network-for-understanding-the-genetic-architecture-of-common-cancers
#19
Christopher I Amos, Joe Dennis, Zhaoming Wang, Jinyoung Byun, Fredrick R Schumacher, Simon A Gayther, Graham Casey, David J Hunter, Thomas A Sellers, Stephen B Gruber, Alison M Dunning, Kyriaki Michailidou, Laura Fachal, Kimberly Doheny, Amanda B Spurdle, Yafang Li, Xiangjun Xiao, Jane Romm, Elizabeth Pugh, Gerhard A Coetzee, Dennis J Hazelett, Stig E Bojesen, Charlisse Caga-Anan, Christopher A Haiman, Ahsan Kamal, Craig Luccarini, Daniel Tessier, Daniel Vincent, François Bacot, David J Van Den Berg, Stefanie Nelson, Stephen Demetriades, David E Goldgar, Fergus J Couch, Judith L Forman, Graham G Giles, David V Conti, Heike Bickeböller, Angela Risch, Melanie Waldenberger, Irene Brüske-Hohlfeld, Belynda D Hicks, Hua Ling, Lesley McGuffog, Andrew Lee, Karoline Kuchenbaecker, Penny Soucy, Judith Manz, Julie M Cunningham, Katja Butterbach, Zsofia Kote-Jarai, Peter Kraft, Liesel FitzGerald, Sara Lindström, Marcia Adams, James D McKay, Catherine M Phelan, Sara Benlloch, Linda E Kelemen, Paul Brennan, Marjorie Riggan, Tracy A O'Mara, Hongbing Shen, Yongyong Shi, Deborah J Thompson, Marc T Goodman, Sune F Nielsen, Andrew Berchuck, Sylvie Laboissiere, Stephanie L Schmit, Tameka Shelford, Christopher K Edlund, Jack A Taylor, John K Field, Sue K Park, Kenneth Offit, Mads Thomassen, Rita Schmutzler, Laura Ottini, Rayjean J Hung, Jonathan Marchini, Ali Amin Al Olama, Ulrike Peters, Rosalind A Eeles, Michael F Seldin, Elizabeth Gillanders, Daniela Seminara, Antonis C Antoniou, Paul D P Pharoah, Georgia Chenevix-Trench, Stephen J Chanock, Jacques Simard, Douglas F Easton
BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-related traits...
January 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/27679482/exosome-secretion-is-a-key-pathway-for-clearance-of-pathological-tdp-43
#20
Yohei Iguchi, Lara Eid, Martin Parent, Geneviève Soucy, Christine Bareil, Yuichi Riku, Kaori Kawai, Shinnosuke Takagi, Mari Yoshida, Masahisa Katsuno, Gen Sobue, Jean-Pierre Julien
Cytoplasmic TDP-43 aggregation is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Here we investigated the role of exosomes in the secretion and propagation of TDP-43 aggregates. TDP-43 was detected in secreted exosomes from Neuro2a cells and primary neurons but not from astrocytes or microglia. Evidence is presented that protein aggregation and autophagy inhibition are factors that promote exosomal secretion of TDP-43. We also report that levels of exosomal TDP-43 full length and C-terminal fragment species are upregulated in human amyotrophic lateral sclerosis brains...
December 2016: Brain: a Journal of Neurology
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