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Results: 498
Genome-wide Estrogen Receptor-α activation is sustained, not cyclical.
Estrogen Receptor-alpha (ER) drives 75% of breast cancers. Stimulation of the ER by estra-2-diol forms a transcriptionally-active chromatin-bound complex. Previous studies reported that ER binding follows a cyclical pattern....
Estrogen estrogen receptor MCF7 Breast Cancer Chromosomes Computational Biology endocrine Gene Expression human Systems Biology Base Sequence Binding Sites Estradiol Estrogen Receptor alpha Female Gene Expression Regulation Neoplastic Genome Human Genome-Wide Association Study Humans MCF-7 Cells Neoplasm Proteins Promoter Regions Genetic Protein Binding Receptors CXCR Signal Transduction Sorting Nexins Trefoil Factor-1
In vitro sensitivity of human parainfluenza 3 clinical isolates to ribavirin, favipiravir and zanamivir.
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Emmanuelle Souzeau, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne EM Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline CW Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Sep 05, 2018
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In...
ADAMTS Proteins Asian People Cornea Corneal Diseases Corneal Dystrophies Hereditary Decorin Ehlers-Danlos Syndrome Eye Diseases Hereditary Fibrillin-1 Gene Expression Genome Human Genome-Wide Association Study Glaucoma Open-Angle Humans Keratoconus Loeys-Dietz Syndrome Lumican Marfan Syndrome Mendelian Randomization Analysis Myopia Polymorphism Single Nucleotide Proteoglycans Quantitative Trait Loci Quantitative Trait Heritable Transforming Growth Factor beta2 White People
Quantitative Temporal Proteomic Analysis of Vaccinia Virus Infection Reveals Regulation of Histone Deacetylases by an Interferon Antagonist.
Lior Soday, Yongxu Lu, Jonas D Albarnaz, Colin TR Davies, Robin Antrobus, Geoffrey L Smith, Michael P Weekes
Apr 16, 2019
Histone deacetylase host-pathogen interaction Immune Evasion innate immunity interferon Poxvirus quantitative proteomics restriction factor systems virology tandem mass tag Cytomegalovirus Down-Regulation Gene Expression Regulation Viral Herpesvirus 1 Human Histone Deacetylases Host-Pathogen Interactions Humans Immune Evasion Interferons Membrane Proteins Proteasome Endopeptidase Complex Proteolysis Proteomics Time Factors Vaccinia vaccinia virus Viral Proteins
Genome-Wide Epigenetic and Transcriptomic Characterization of Human-Induced Pluripotent Stem Cell-Derived Intestinal Epithelial Organoids.
Judith Kraiczy, Alexander DB Ross, Jessica L Forbester, Gordon Dougan, Ludovic Vallier, Matthias Zilbauer
Jan 15, 2019
An interactive genome browser of association results from the UK10K cohorts project.
Matthias Geihs, Ying Yan, Klaudia Walter, Jie Huang, Yasin Memari, Josine L Min, Daniel Mead, UK10K consortium, Tim J Hubbard, Nicholas J Timpson, Thomas A Down, Nicole Soranzo
Jun 25, 2018
UNLABELLED: High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts...
Epstein-Barr virus nuclear antigen EBNA-LP is essential for transforming naïve B cells, and facilitates recruitment of transcription factors to the viral genome.
Agnieszka Szymula, Richard D Palermo, Amr Bayoumy, Ian J Groves, Mohammed Ba Abdullah, Beth Holder, Robert E White
Jul 31, 2018
The Epstein-Barr virus (EBV) nuclear antigen leader protein (EBNA-LP) is the first viral latency-associated protein produced after EBV infection of resting B cells. Its role in B cell transformation is poorly defined, but it has...
Adult B-Lymphocytes Cell Transformation Viral Cells Cultured Epstein-Barr Virus Infections Female Gene Expression Regulation Viral Genome Viral HEK293 Cells Herpesvirus 4 Human Humans Infant Newborn Leukemia B-Cell Pregnancy Promoter Regions Genetic Protein Binding Transcription Factors Viral Proteins
The African Genome Variation Project shapes medical genetics in Africa.
Deepti Gurdasani, Tommy Carstensen, Fasil Tekola-Ayele, Luca Pagani, Ioanna Tachmazidou, Konstantinos Hatzikotoulas, Savita Karthikeyan, Louise Iles, Martin O Pollard, Ananyo Choudhury, Graham RS Ritchie, Yali Xue, Jennifer Asimit, Rebecca N Nsubuga, Elizabeth H Young, Cristina Pomilla, Katja Kivinen, Kirk Rockett, Anatoli Kamali, Ayo P Doumatey, Gershim Asiki, Janet Seeley, Fatoumatta Sisay-Joof, Muminatou Jallow, Stephen Tollman, Ephrem Mekonnen, Rosemary Ekong, Tamiru Oljira, Neil Bradman, Kalifa Bojang, Michele Ramsay, Adebowale Adeyemo, Endashaw Bekele, Ayesha Motala, Shane A Norris, Fraser Pirie, Pontiano Kaleebu, Dominic Kwiatkowski, Chris Tyler-Smith, Charles Rotimi, Eleftheria Zeggini, Manjinder S Sandhu
Aug 15, 2018
Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to...
Drug-perturbation-based stratification of blood cancer.
Sascha Dietrich, Małgorzata Oleś, Junyan Lu, Leopold Sellner, Simon Anders, Britta Velten, Bian Wu, Jennifer Hüllein, Michelle da Silva Liberio, Tatjana Walther, Lena Wagner, Sophie Rabe, Sonja Ghidelli-Disse, Marcus Bantscheff, Andrzej K Oleś, Mikołaj Słabicki, Andreas Mock, Christopher C Oakes, Shihui Wang, Sina Oppermann, Marina Lukas, Vladislav Kim, Martin Sill, Axel Benner, Anna Jauch, Lesley Ann Sutton, Emma Young, Richard Rosenquist, Xiyang Liu, Alexander Jethwa, Kwang Seok Lee, Joe Lewis, Kerstin Putzker, Christoph Lutz, Davide Rossi, Andriy Mokhir, Thomas Oellerich, Katja Zirlik, Marco Herling, Florence Nguyen-Khac, Christoph Plass, Emma Andersson, Satu Mustjoki, Christof von Kalle, Anthony D Ho, Manfred Hensel, Jan Dürig, Ingo Ringshausen, Marc Zapatka, Wolfgang Huber, Thorsten Zenz
Mar 08, 2018
As new generations of targeted therapies emerge and tumor genome sequencing discovers increasingly comprehensive mutation repertoires, the functional relationships of mutations to tumor phenotypes remain largely unknown. Here...
Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.
Min Hu, Qasim Ayub, José Afonso Guerra-Assunção, Quan Long, Zemin Ning, Ni Huang, Irene Gallego Romero, Lira Mamanova, Pelin Akan, Xin Liu, Alison J Coffey, Daniel J Turner, Harold Swerdlow, John Burton, Michael A Quail, Donald F Conrad, Anton J Enright, Chris Tyler-Smith, Yali Xue
Jan 23, 2018
We have investigated whether regions of the genome showing signs of positive selection in scans based on haplotype structure also show evidence of positive selection when sequence-based tests are applied, whether the target of...
Genetic loci for retinal arteriolar microcirculation.
Xueling Sim, Richard A Jensen, M Kamran Ikram, Mary Frances Cotch, Xiaohui Li, Stuart MacGregor, Jing Xie, Albert Vernon Smith, Eric Boerwinkle, Paul Mitchell, Ronald Klein, Barbara EK Klein, Nicole L Glazer, Thomas Lumley, Barbara McKnight, Bruce M Psaty, Paulus TVM de Jong, Albert Hofman, Fernando Rivadeneira, Andre G Uitterlinden, Cornelia M van Duijn, Thor Aspelund, Gudny Eiriksdottir, Tamara B Harris, Fridbert Jonasson, Lenore J Launer, Wellcome Trust Case Control Consortium 2, John Attia, Paul N Baird, Stephen Harrap, Elizabeth G Holliday, Michael Inouye, Elena Rochtchina, Rodney J Scott, Ananth Viswanathan, Global BPGen Consortium, Guo Li, Nicholas L Smith, Kerri L Wiggins, Jane Z Kuo, Kent D Taylor, Alex W Hewitt, Nicholas G Martin, Grant W Montgomery, Cong Sun, Terri L Young, David A Mackey, Natalie R Van Zuydam, Alex SF Doney, Colin NA Palmer, Andrew D Morris, Jerome I Rotter, E Shyong Tai, Vilmundur Gudnason, Johannes R Vingerling, David S Siscovick, Jie Jin Wang, Tien Y Wong
Jan 23, 2018
Narrow arterioles in the retina have been shown to predict hypertension as well as other vascular diseases, likely through an increase in the peripheral resistance of the microcirculatory flow. In this study, we performed a...
Selective sweep on human amylase genes postdates the split with Neanderthals
CE Inchley, CDA Larbey, NAA Shwan, L Pagani, L Saag, T Antão, G Jacobs, G Hudjashov, E Metspalu, M Mitt, CA Eichstaedt, B Malyarchuk, M Derenko, J Wee, S Abdullah, F-X Ricaut, M Mormina, R Mägi, R Villems, M Metspalu, MK Jones, JAL Armour, T Kivisild
May 02, 2017
HGVA
Javier Lopez, Jacobo Coll, Matthias Haimel, Swaathi Kandasamy, Joaquin Tarraga, Pedro Furio-Tari, Wasim Bari, Marta Bleda, Antonio Rueda, Stefan Gräf, Augusto Rendon, Joaquin Dopazo, Ignacio Medina
Aug 18, 2017
High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying...
A Microfluidic Co-Flow Route for Human Serum Albumin-Drug-Nanoparticle Assembly.
Tuuli A Hakala, Sarah Davies, Zenon Toprakcioglu, Barbara Bernardim, Gonçalo JL Bernardes, Tuomas PJ Knowles
Apr 02, 2020
Nanoparticles are widely studied as carrier vehicles in biological systems because their size readily allows access through cellular membranes. Moreover, they have the potential to carry cargo molecules and as such, these...
Emerin modulates spatial organization of chromosome territories in cells on softer matrices.
Cells perceive and relay external mechanical forces into the nucleus through the nuclear envelope. Here we examined the effect of lowering substrate stiffness as a paradigm to address the impact of altered mechanical forces on...
Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome.
Wentao Shi, Andrea Massaia, Sandra Louzada, Juliet Handsaker, William Chow, Shane McCarthy, Joanna Collins, Pille Hallast, Kerstin Howe, Deanna M Church, Fengtang Yang, Yali Xue, Chris Tyler-Smith
Nov 26, 2019
BACKGROUND: Large palindromes (inverted repeats) make up substantial proportions of mammalian sex chromosomes, often contain genes, and have high rates of structural variation arising via ectopic recombination. As a result, they...
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.
Emily Baker, Rebecca Sims, Ganna Leonenko, Aura Frizzati, Janet C Harwood, Detelina Grozeva, GERAD/PERADES, CHARGE, ADGC, EADI, IGAP consortia, Kevin Morgan, Peter Passmore, Clive Holmes, John Powell, Carol Brayne, Michael Gill, Simon Mead, Paola Bossù, Gianfranco Spalletta, Alison M Goate, Carlos Cruchaga, Wolfgang Maier, Reinhard Heun, Frank Jessen, Oliver Peters, Martin Dichgans, Lutz Frölich, Alfredo Ramirez, Lesley Jones, John Hardy, Dobril Ivanov, Matthew Hill, Peter Holmans, Nicholas D Allen, B Paul Morgan, Sudha Seshadri, Gerard D Schellenberg, Philippe Amouyel, Julie Williams, Valentina Escott-Price
Aug 21, 2019
Late onset Alzheimer's disease is the most common form of dementia for which about 30 susceptibility loci have been reported. The aim of the current study is to identify novel genes associated with Alzheimer's disease using the...
Alzheimer Disease Amyloid beta-Peptides Centrosome Cholesterol Circadian Rhythm DNA Damage DNA Repair Energy Metabolism Female Genome Human Genome-Wide Association Study Humans Inflammation Male Nuclear Receptor Subfamily 1 Group F Member 1 Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha Polymorphism Single Nucleotide Proteins
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Anja Thormann, Mihail Halachev, William McLaren, David J Moore, Victoria Svinti, Archie Campbell, Shona M Kerr, Marc Tischkowitz, Sarah E Hunt, Malcolm G Dunlop, Matthew E Hurles, Caroline F Wright, Helen V Firth, Fiona Cunningham, David R FitzPatrick
Feb 07, 2020
We aimed to develop an efficient, flexible and scalable approach to diagnostic genome-wide sequence analysis of genetically heterogeneous clinical presentations. Here we present G2P ( www.ebi.ac.uk/gene2phenotype ) as an online...
A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians.
Eileen Png, Bachti Alisjahbana, Edhyana Sahiratmadja, Sangkot Marzuki, Ron Nelwan, Yanina Balabanova, Vladyslav Nikolayevskyy, Francis Drobniewski, Sergey Nejentsev, Iskandar Adnan, Esther van de Vosse, Martin L Hibberd, Reinout van Crevel, Tom HM Ottenhoff, Mark Seielstad
Feb 27, 2012
Development of a questionnaire to assess maternal attitudes towards infant growth and milk feeding practices.
Rajalakshmi R Lakshman, Jill R Landsbaugh, Annie Schiff, Wendy Hardeman, Ken K Ong, Simon J Griffin
Jun 09, 2011
Origins of chromosomal rearrangement hotspots in the human genome
Copynumber
Gro Nilsen, Knut Liestøl, Peter Van Loo, Hans Kristian Moen Vollan, Marianne B Eide, Oscar M Rueda, Suet-Feung Chin, Roslin Russell, Lars O Baumbusch, Carlos Caldas, Anne-Lise Børresen-Dale, Ole Christian Lingjaerde
Feb 26, 2013
Circulation of reassortant influenza A(H7N9) viruses in poultry and humans, Guangdong Province, China, 2013.
Changwen Ke, Jing Lu, Jie Wu, Dawei Guan, Lirong Zou, Tie Song, Lina Yi, Xianqiao Zeng, Lijun Liang, Hanzhong Ni, Min Kang, Xin Zhang, Haojie Zhong, Jianfeng He, Jinyan Lin, Derek Smith, David Burke, Ron AM Fouchier, Marion Koopmans, Yonghui Zhang
Nov 13, 2014
Adolescent Adult Aged Animals China Environmental Monitoring Female Genome Viral Geography Medical Hemagglutinin Glycoproteins Influenza Virus High-Throughput Nucleotide Sequencing Humans Influenza A virus H7N9 Subtype Influenza in Birds Influenza Human Male Middle Aged Neuraminidase Phylogeny Phylogeography Poultry Public Health Surveillance Reassortant Viruses Viral Proteins Young Adult
Improving pandemic influenza risk assessment.
Colin A Russell, Peter M Kasson, Ruben O Donis, Steven Riley, John Dunbar, Andrew Rambaut, Jason Asher, Stephen Burke, C Todd Davis, Rebecca J Garten, Sandrasegaram Gnanakaran, Simon I Hay, Sander Herfst, Nicola S Lewis, James O Lloyd-Smith, Catherine A Macken, Sebastian Maurer-Stroh, Elizabeth Neuhaus, Colin R Parrish, Kim M Pepin, Samuel S Shepard, David L Smith, David L Suarez, Susan C Trock, Marc-Alain Widdowson, Dylan B George, Marc Lipsitch, Jesse D Bloom
Jun 03, 2015
A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development.
Walfred WC Tang, Sabine Dietmann, Naoko Irie, Harry G Leitch, Vasileios I Floros, Charles R Bradshaw, Jamie A Hackett, Patrick F Chinnery, M Azim Surani
Jun 04, 2015
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