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Results: 87609
Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips.
Matthew E Ritchie, Ruijie Liu, Benilton S Carvalho, Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene), Rafael A Irizarry
May 26, 2011
A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium
Jun 21, 2019
Genome-wide association studies (GWAS) have identified more than 50,000 unique associations with common human traits. While this represents a substantial step forward, establishing the biology underlying these associations has...
Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.
International Multiple Sclerosis Genetics Consortium. Electronic address: chris.cotsapas@yale.edu, International Multiple Sclerosis Genetics Consortium
Sep 21, 2018
Multiple sclerosis is a complex neurological disease, with ∼20% of risk heritability attributable to common genetic variants, including >230 identified by genome-wide association studies. Multiple strands of evidence suggest...
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.
International Multiple Sclerosis Genetics Consortium
Aug 13, 2019
Case-Control Studies Cell Cycle Proteins Chromosome Mapping Chromosomes Human X GTPase-Activating Proteins Gene Frequency Genetic Loci Genome-Wide Association Study Genomics Humans Inheritance Patterns Major Histocompatibility Complex Microglia Multiple Sclerosis Polymorphism Single Nucleotide Quantitative Trait Loci RNA-seq Transcriptome
Cell-based therapeutic strategies for multiple sclerosis.
Neil J Scolding, Marcelo Pasquini, Stephen C Reingold, Jeffrey A Cohen, International Conference on Cell-Based Therapies for Multiple Sclerosis, International Conference on Cell-Based Therapies for Multiple Sclerosis, International Conference on Cell-Based Therapies for Multiple Sclerosis
Jan 15, 2018
The availability of multiple disease-modifying medications with regulatory approval to treat multiple sclerosis illustrates the substantial progress made in therapy of the disease. However, all are only partially effective in...
Clinical Trials medical ethics multiple sclerosis and neuroinflammation remyelination Stem Cells Hematopoietic Stem Cell Transplantation Humans Induced Pluripotent Stem Cells Mesenchymal Stem Cell Transplantation Multiple Sclerosis Myelin Sheath Oligodendroglia Regeneration Stem Cell Transplantation Stem Cells Transplantation Autologous
The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia
Christel M Middeldorp, Janine F Felix, Anubha Mahajan, EArly Genetics Lifecourse Epidemiology (EAGLE) consortium, Early Growth Genetics (EGG) Consortium, Mark I McCarthy
Jul 18, 2019
The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as...
Multiple Sclerosis
Multiple sclerosis is an emerging neurological condition. It is a neurodegenerative disease. In both the central and the peripheral nervous systems, large-diameter axons are myelinated. Within the CNS, myelin is formed and...
Published by: IJHS Medical Association
Multiple Sclerosis
Multiple sclerosis is an emerging neurological condition. It is a neurodegenerative disease. In both the central and the peripheral nervous systems, large-diameter axons are myelinated. Within the CNS, myelin is formed and...
Published by: IJHS Medical Association
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.
Amit V Khera, Hong-Hee Won, Gina M Peloso, Colm O'Dushlaine, Dajiang Liu, Nathan O Stitziel, Pradeep Natarajan, Akihiro Nomura, Connor A Emdin, Namrata Gupta, Ingrid B Borecki, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H Lester Kirchner, Joseph B Leader, Daniel R Lavage, J Neil Manus, Dustin N Hartzel, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Eric S Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Cristen Willer, Gonçalo R Abecasis, Danish Saleheen, Frederick E Dewey, Sekar Kathiresan, DiscovEHR Study Group, CARDIoGRAM Exome Consortium, and Global Lipids Genetics Consortium Myocardial Infarction Genetics Consortium
Jun 25, 2018
IMPORTANCE: The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from the circulation. Mutations that damage the LPL gene (LPL) lead to lifelong deficiency in enzymatic...
Consensus for genes to be included on cancer panel tests offered by UK genetics services
Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side, UK Cancer Genetics Group (UK-CGG)
May 18, 2018
Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited...
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...
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01
Philippe Goyette, Gabrielle Boucher, Dermot Mallon, Eva Ellinghaus, Luke Jostins, Hailiang Huang, Stephan Ripke, Elena S Gusareva, Vito Annese, Stephen L Hauser, Jorge R Oksenberg, Ingo Thomsen, Stephen Leslie, International Inflammatory Bowel Disease Genetics Consortium, Australia and New Zealand IBDGC, Belgium IBD Genetics Consortium, Italian Group for IBD Genetic Consortium, NIDDK Inflammatory Bowel Disease Genetics Consortium, United Kingdom IBDGC, Wellcome Trust Case Control Consortium, Quebec IBD Genetics Consortium, Mark J Daly, Kristel Van Steen, Richard H Duerr, Jeffrey C Barrett, Dermot PB McGovern, L Philip Schumm, James A Traherne, Mary N Carrington, Vasilis Kosmoliaptsis, Tom H Karlsen, Andre Franke, John D Rioux
Aug 11, 2015
Alleles Chromosome Mapping Colitis Ulcerative Crohn Disease Genetic Linkage Genetic Predisposition to Disease Genome-Wide Association Study Genotype Genotyping Techniques HLA-DRB1 Chains Heterozygote Humans Inflammatory Bowel Diseases Major Histocompatibility Complex Phenotype Polymorphism Single Nucleotide
Diffusion tensor imaging of the normal-appearing deep gray matter in primary and secondary progressive multiple sclerosis.
Background Despite strongly overlapping patterns of clinical and histopathologic findings in primary and secondary progressive multiple sclerosis, differences concerning motor symptoms...
Ramona Woitek, Fritz Leutmezer, Assunta Dal-Bianco, Julia Furtner, Gregor Kasprian, Daniela Prayer, Veronika Schöpf
Sep 10, 2019
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...
Promoting remyelination in multiple sclerosis
Abstract: The greatest unmet need in multiple sclerosis (MS) are treatments that delay, prevent or reverse progression. One of the most tractable strategies to achieve this is to therapeutically enhance endogenous remyelination;...
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Derek Klarin, Scott M Damrauer, Kelly Cho, Yan V Sun, Tanya M Teslovich, Jacqueline Honerlaw, David R Gagnon, Scott L DuVall, Jin Li, Gina M Peloso, Mark Chaffin, Aeron M Small, Jie Huang, Hua Tang, Julie A Lynch, Yuk-Lam Ho, Dajiang J Liu, Connor A Emdin, Alexander H Li, Jennifer E Huffman, Jennifer S Lee, Pradeep Natarajan, Rajiv Chowdhury, Danish Saleheen, Marijana Vujkovic, Aris Baras, Saiju Pyarajan, Emanuele Di Angelantonio, Benjamin M Neale, Aliya Naheed, Amit V Khera, John Danesh, Kyong-Mi Chang, Gonçalo Abecasis, Cristen Willer, Frederick E Dewey, David J Carey, Global Lipids Genetics Consortium, Myocardial Infarction Genetics (MIGen) Consortium, Geisinger-Regeneron DiscovEHR Collaboration, VA Million Veteran Program, John Concato, J Michael Gaziano, Christopher J O'Donnell, Philip S Tsao, Sekar Kathiresan, Daniel J Rader, Peter WF Wilson, Themistocles L Assimes
Sep 08, 2018
The Million Veteran Program (MVP) was established in 2011 as a national research initiative to determine how genetic variation influences the health of US military veterans. Here we genotyped 312,571 MVP participants using a...
Genomic Analysis of Salmonella enterica Serovar Typhimurium DT160 Associated with a 14-Year Outbreak, New Zealand, 1998–2012
SJ Bloomfield, J Benschop1, PJ Biggs, JC Marshall, TS Hayman, PE Carter, AC Midwinter, AE Mather, NP French
Jun 06, 2017
During 1998–2012, an extended outbreak of Salmonella enterica serovar Typhimurium definitive type 160 (DT160) affected >3,000 humans and killed wild birds in New Zealand. However, the relationship between DT160 within these 2...
Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS.
Mitochondrial dysfunction is associated with neuroinflammation and neurodegenerative disease, but its role as a driver in these processes is uncertain. Understanding the pathogenesis of inherited mitochondrial disorders may help...
Microglia Diversity in Health and Multiple Sclerosis.
Sameera Zia, Khalil S Rawji, Nathan J Michaels, Mena Burr, Bradley J Kerr, Luke M Healy, Jason R Plemel
Nov 20, 2020
Multiple Sclerosis (MS) is a neurodegenerative disease characterized by multiple focal lesions, ongoing demyelination and, for most people, a lack of remyelination. MS lesions are enriched with monocyte-derived macrophages and...
Enhanced axonal response of mitochondria to demyelination offers neuroprotection
Simon Licht-Mayer, Graham R Campbell, Marco Canizares, Arpan R Mehta, Angus B Gane, Katie McGill, Aniket Ghosh, Alexander Fullerton, Niels Menezes, Jasmine Dean, Jordon Dunham, Sarah Al-Azki, Gareth Pryce, Stephanie Zandee, Chao Zhao, Markus Kipp, Kenneth J Smith, David Baker, Daniel Altmann, Stephen M Anderton, Yolanda S Kap, Jon D Laman, Bert A 't Hart, Moses Rodriguez, Ralf Watzlawick, Jan M Schwab, Roderick Carter, Nicholas Morton, Michele Zagnoni, Robin Jm Franklin, Rory Mitchell, Sue Fleetwood-Walker, David A Lyons, Siddharthan Chandran, Hans Lassmann, Bruce D Trapp, Don J Mahad
Jun 26, 2020
Axonal loss is the key pathological substrate of neurological disability in demyelinating disorders, including multiple sclerosis (MS). However, the consequences of demyelination on neuronal and axonal biology are poorly...
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.
Phuwanat Sakornsakolpat, Dmitry Prokopenko, Maxime Lamontagne, Nicola F Reeve, Anna L Guyatt, Victoria E Jackson, Nick Shrine, Dandi Qiao, Traci M Bartz, Deog Kyeom Kim, Mi Kyeong Lee, Jeanne C Latourelle, Xingnan Li, Jarrett D Morrow, Ma'en Obeidat, Annah B Wyss, Per Bakke, R Graham Barr, Terri H Beaty, Steven A Belinsky, Guy G Brusselle, James D Crapo, Kim de Jong, Dawn L DeMeo, Tasha E Fingerlin, Sina A Gharib, Amund Gulsvik, Ian P Hall, John E Hokanson, Woo Jin Kim, David A Lomas, Stephanie J London, Deborah A Meyers, George T O'Connor, Stephen I Rennard, David A Schwartz, Pawel Sliwinski, David Sparrow, David P Strachan, Ruth Tal-Singer, Yohannes Tesfaigzi, Jørgen Vestbo, Judith M Vonk, Jae-Joon Yim, Xiaobo Zhou, Yohan Bossé, Ani Manichaikul, Lies Lahousse, Edwin K Silverman, H Marike Boezen, Louise V Wain, Martin D Tobin, Brian D Hobbs, Michael H Cho, SpiroMeta Consortium, International COPD Genetics Consortium
Jan 13, 2020
Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed a genome-wide association study in 35,735 cases...
Global Scale Dissemination of ST93
Sebastiaan J van Hal, Eike J Steinig, Patiyan Andersson, Matthew TG Holden, Simon R Harris, Graeme R Nimmo, Deborah A Williamson, Helen Heffernan, SR Ritchie, Angela M Kearns, Matthew J Ellington, Elizabeth Dickson, Herminia de Lencastre, Geoffrey W Coombs, Stephen D Bentley, Julian Parkhill, Deborah C Holt, Phillip M Giffard, Steven YC Tong
Sep 06, 2019
Background: In Australia, community-associated methicillin-resistant Staphylococcus aureus (MRSA) lineage sequence type (ST) 93 has rapidly risen to dominance since being described in the early 1990s. We examined 459 ST93 genome...
Genome-wide meta-analysis identifies 3 novel loci associated with stroke.
Rainer Malik, Kristiina Rannikmäe, Matthew Traylor, Marios K Georgakis, Muralidharan Sargurupremraj, Hugh S Markus, Jemma C Hopewell, Stephanie Debette, Cathie LM Sudlow, Martin Dichgans, MEGASTROKE consortium and the International Stroke Genetics Consortium
Dec 21, 2018
We conducted a European-only and transancestral genome-wide association meta-analysis in 72,147 stroke patients and 823,869 controls using data from UK Biobank (UKB) and the MEGASTROKE consortium. We identified an exonic...
Lesions Detection of Multiple Sclerosis in 3D Brian MR Images by Using Artificial Immune Systems and Support Vector Machines
This paper presents a segmentation method to detect multiple sclerosis (MS) lesions in brain MRI based on the artificial immune systems (AIS) and a support vector machines (SVM). In the first step, AIS is used to segment the...
Published by: IGI Global Scientific Publishing
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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