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Results: 12876
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease
C Song, S Burgess, JD Eicher, CHARGE Consortium Hemostatic Factor Working Group, ICBP Consortium, CHARGE Consortium Subclinical Working Group, CJ O’Donnell, AD Johnson
May 11, 2017
Surveillance recommendations for DICER1 pathogenic variant carriers
Jette J Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn CJ Jongmans, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group, Expert Network Members
Oct 01, 2021
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance...
The Typhoid Vaccine Acceleration Consortium (TyVAC): Vaccine effectiveness study designs
Typhoid fever is estimated to cause between 11.9-26.9 million infections globally each year with 129,000-216,510 deaths. Access to improved water sources have reduced disease incidence in parts of the world but the use of...
The GRAPPA-OMERACT Working Group
Ying Ying Leung, William Tillett, Ana-Maria Orbai, Alexis Ogdie, Lihi Eder, Laura C Coates, Richard Holland, Anna Antony, Niti Goel, Philip J Mease
Jun 30, 2020
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) working group provided updates at the 2019 GRAPPA annual meeting on its...
The GRAPPA-OMERACT Working Group
Ying Ying Leung, William Tillett, Ana-Maria Orbai, Alexis Ogdie, Lihi Eder, Laura C Coates, Richard Holland, Anna Antony, Niti Goel, Philip J Mease
Jun 30, 2020
The Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA)-Outcome Measures in Rheumatology (OMERACT) Psoriatic Arthritis (PsA) working group provided updates at the 2019 GRAPPA annual meeting on its...
Assessment of venous hemodynamics and volume homeostasis during pregnancy
Venous hemodynamics and volume homeostasis are important aspects of cardiovascular physiology. However, today their relevance is still very much underappreciated. Their most important role is maintenance and control of venous...
maternal hemodynamics plasma volume Pregnancy venous hemodynamics venous return volume homeostasis Blood Flow Velocity cardiac output Cardiovascular Physiological Phenomena Consensus Development Conferences as Topic Female Guidelines as Topic Hemodynamics Homeostasis Humans Maternal Health Pregnancy Pregnancy Complications Cardiovascular Prenatal Diagnosis Uterine Artery
Changing the name of diabetes insipidus
Working Group for Renaming Diabetes Insipidus, Hiroshi Arima, Timothy Cheetham, Mirjam Christ-Crain, Deborah Cooper, Mark Gurnell, Juliana B Drummond, Miles Levy, Ann I McCormack, Joseph Verbalis, John Newell-Price, John AH Wass
Nov 16, 2022
'What's in a name? That which we call a rose/By any other name would smell as sweet' (Juliet, from Romeo and Juliet by William Shakespeare). Shakespeare's implication is that a name is nothing but a word, and it therefore...
Patient-reported outcome instruments for assessing Raynaud’s phenomenon in systemic sclerosis
John D. Pauling, Tracy M. Frech, Michael Hughes, Jessica K. Gordon, Robyn T. Domsic, Marina E. Anderson, Francesca Ingegnoli, Neil J. McHugh, Sindhu R. Johnson, Marie Hudson, Francesco Boin, Voon H. Ong, Marco Matucci-Cerinic, Nezam Altorok, Marina Scolnik, Mandana Nikpour, Ankoor Shah, Janet E. Pope, Dinesh Khanna, Ariane L. Herrick
Oct 01, 2018
The episodic nature of Raynaud’s phenomenon in systemic sclerosis has led to a reliance on patient-reported outcome instruments such as the Raynaud’s Condition Score diary. Little is known about the utilization in routine...
Collaborating to Explore Controlled Digital Lending as a Library Consortium
In 2020–2021, the Boston Library Consortium (BLC) explored the potential for controlled digital lending (CDL) across the library consortium. Over the course of a year, the BLC's CDL Working Group engaged with internal...
Library Science Library and Information Science Library Administration Education Media and Communications
Published by: IGI Global Scientific Publishing
Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis.
Lourdes Ortiz-Fernández, Francisco David Carmona, Raquel López-Mejías, Maria Francisca González-Escribano, Paul A Lyons, Ann W Morgan, Amr H Sawalha, Peter A Merkel, Kenneth GC Smith, Miguel A González-Gay, Javier Martín, UK GCA Consortium, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium, IgAV Study Group, AAV Study group Spanish GCA Study Group
Apr 18, 2018
OBJETIVE: Systemic vasculitides represent a heterogeneous group of rare complex diseases of the blood vessels with a poorly understood aetiology. To investigate the shared genetic component underlying their predisposition, we...
Autoantibodies outcomes research systemic sclerosis Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Case-Control Studies Epigenesis Genetic Female Genetic Loci Genetic Predisposition to Disease Giant Cell Arteritis HLA-DQ Antigens HLA-DQ beta-Chains Humans Jumonji Domain-Containing Histone Demethylases Linkage Disequilibrium Male Phenotype Polymorphism Single Nucleotide Protein Array Analysis Systemic Vasculitis Takayasu arteritis
Working for the future
Tochukwu Nweze, Mary Basil Nwoke, Juliet Ifeoma Nwufo, Richard Ikechukwu Aniekwu, Florian Lange
Jun 12, 2020
BACKGROUND: The dominant view based on the deficit model of developmental psychopathology is that early adverse rearing impairs cognition. In contrast, an emerging evolutionary-developmental model argues that individuals exposed...
High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
Yiqun Zhang, Fengju Chen, Nuno A Fonseca, Yao He, Masashi Fujita, Hidewaki Nakagawa, Zemin Zhang, Alvis Brazma, PCAWG Transcriptome Working Group, PCAWG Structural Variation Working Group, Chad J Creighton, PCAWG Consortium
Feb 04, 2021
The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing...
The International Human Epigenome Consortium
The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal...
Surveillance and Epidemiology of Drug Resistant Infections Consortium (SEDRIC)
Keiji Fukuda, Direk Limmathurotsakul, Iruka N Okeke, Nandini Shetty, Rogier van Doorn, Nicholas A Feasey, Francesca Chiara, Ghada Zoubiane, Tim Jinks, Julian Parkhill, Jean Patel, Stuart WJ Reid, Alison H Holmes, Sharon J Peacock, Surveillance and Epidemiology of Drug Resistant Infections Consortium (SEDRIC)
Nov 05, 2018
In recognition of the central importance of surveillance and epidemiology in the control of antimicrobial resistance and the need to strengthen surveillance at all levels, Wellcome has brought together a new international expert...
ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Jan 04, 2023
Immune mediated inflammatory diseases (IMIDs) are a heterogeneous group of debilitating, multifactorial and unrelated conditions featured by a dysregulated immune response leading to destructive chronic inflammation. The immune...
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer.
Kadir C Akdemir, Victoria T Le, Sahaana Chandran, Yilong Li, Roel G Verhaak, Rameen Beroukhim, Peter J Campbell, Lynda Chin, Jesse R Dixon, P Andrew Futreal, PCAWG Structural Variation Working Group, PCAWG Consortium
Feb 04, 2021
Chromatin is folded into successive layers to organize linear DNA. Genes within the same topologically associating domains (TADs) demonstrate similar expression and histone-modification profiles, and boundaries separating...
Patient-reported outcome instruments for assessing Raynaud’s phenomenon in systemic sclerosis
John D. Pauling, Tracy M. Frech, Michael Hughes, Jessica K. Gordon, Robyn T. Domsic, Marina E. Anderson, Francesca Ingegnoli, Neil J. McHugh, Sindhu R. Johnson, Marie Hudson, Francesco Boin, Voon H. Ong, Marco Matucci-Cerinic, Nezam Altorok, Marina Scolnik, Mandana Nikpour, Ankoor Shah, Janet E. Pope, Dinesh Khanna, Ariane L. Herrick
Oct 01, 2018
The episodic nature of Raynaud’s phenomenon in systemic sclerosis has led to a reliance on patient-reported outcome instruments such as the Raynaud’s Condition Score diary. Little is known about the utilization in routine...
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Matthew H Bailey, William U Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Gordon Saksena, Kyle Ellrott, Michael C Wendl, David A Wheeler, Gad Getz, Jared T Simpson, Mark B Gerstein, Li Ding, PCAWG Consortium
Oct 12, 2020
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the...
Review of the psoriatic arthritis working group at OMERACT 12
William Tillett, Lihi Eder, Niti Goel, Maarten de Wit, Alexis Ogdie, Ana Maria Orbai, Willemina Campbell, Oliver FitzGerald, Neil J. McHugh, Dafna D. Gladman, Vibeke Strand, Philip J. Mease
Jun 01, 2015
At the 2014 annual meeting of the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA), the psoriatic arthritis (PsA) working group of OMERACT (Outcome Measures in Rheumatology) presented a review...
Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig.
Yulia Rubanova, Ruian Shi, Caitlin F Harrigan, Roujia Li, Jeff Wintersinger, Nil Sahin, Amit G Deshwar, PCAWG Evolution and Heterogeneity Working Group, Quaid D Morris, PCAWG Consortium
Feb 04, 2021
The type and genomic context of cancer mutations depend on their causes. These causes have been characterized using signatures that represent mutation types that co-occur in the same tumours. However, it remains unclear how...
Review of the psoriatic arthritis working group at OMERACT 12
William Tillett, Lihi Eder, Niti Goel, Maarten de Wit, Alexis Ogdie, Ana Maria Orbai, Willemina Campbell, Oliver FitzGerald, Neil J. McHugh, Dafna D. Gladman, Vibeke Strand, Philip J. Mease
Jun 01, 2015
At the 2014 annual meeting of the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA), the psoriatic arthritis (PsA) working group of OMERACT (Outcome Measures in Rheumatology) presented a review...
Gene Ontology Consortium
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO; http://www.geneontology.org) is a community-based bioinformatics resource that supplies information about gene product function using ontologies to represent biological knowledge. Here we describe...
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes
BP Prins, A Abbasi, A Wong, A Vaez, I Nolte, N Franceschini, PE Stuart, J Guterriez Achury, V Mistry, JP Bradfield, AM Valdes, J Bras, A Shatunov, PAGE Consortium, International Stroke Genetics Consortium, Systemic Sclerosis consortium, Treat OA consortium, DIAGRAM Consortium, CARDIoGRAMplusC4D Consortium, ALS consortium, International Parkinson’s Disease Genomics Consortium, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, CKDGen consortium, GERAD1 Consortium, International Consortium for Blood Pressure, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Inflammation Working Group of the CHARGE Consortium, C Lu, B Han, S Raychaudhuri, S Bevan, MD Mayes, LC Tsoi, E Evangelou, RP Nair, SFA Grant, C Polychronakos, TRD Radstake, DA van Heel, ML Dunstan, NW Wood, A Al-Chalabi, A Dehghan, H Hakonarson, HS Markus, JT Elder, J Knight, DE Arking, TD Spector, BPC Koeleman, CM van Duijn, J Martin, AP Morris, RK Weersma, C Wijmenga, PB Munroe, JRB Perry, JG Pouget, Y Jamshidi, H Snieder, BZ Alizadeh
Jan 30, 2017
BACKGROUND: C-reactive protein (CRP) is associated with immune, cardiometabolic, and psychiatric traits and diseases. Yet it is inconclusive whether these associations are causal. METHODS AND FINDINGS: We performed Mendelian...
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Alcohol Commercial determinants Inequalities Non-communicable disease Policy Prevention Public Health Tobacco Unhealthy commodities /dk/atira/pure/subjectarea/asjc/2700/2701 name=Medicine (miscellaneous) /dk/atira/pure/subjectarea/asjc/1300/1300 name=General Biochemistry,Genetics and Molecular Biology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Alcohol Commercial determinants Inequalities Non-communicable disease Policy Prevention Public Health Tobacco Unhealthy commodities /dk/atira/pure/subjectarea/asjc/2700/2701 name=Medicine (miscellaneous) /dk/atira/pure/subjectarea/asjc/1300/1300 name=General Biochemistry,Genetics and Molecular Biology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
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