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Results: 11396
Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue.
Oneil G Bhalala, Artika P Nath, UK Brain Expression Consortium, Michael Inouye, Christopher R Sibley
Sep 10, 2018
Schizophrenia and the affective disorders, here comprising bipolar disorder and major depressive disorder, are psychiatric illnesses that lead to significant morbidity and mortality worldwide. Whilst understanding of their...
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...
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...
An integrated national scale SARS-CoV-2 genomic surveillance network.
The Coronavirus Disease 2019 (COVID-19) Genomics UK Consortium (COG-UK) was launched in March, 2020, with £20 million support from UK Research and Innovation, the UK Department of Health and Social Care, and Wellcome Trust. The...
Stakeholder engagement in European brain research
Isabelle Budin-Ljøsne, Barbara B Friedman, William FC Baaré, David Bartrés-Faz, Rebecca B Carver, Christian A Drevon, Klaus P Ebmeier, Anders M Fjell, Paolo Ghisletta, Richard N Henson, Rogier Kievit, Kathrine S Madsen, Laura Nawijn, Sana Suri, Cristina Solé-Padullés, Kristine B Walhovd, Enikő Zsoldos
Mar 29, 2023
INTRODUCTION: Stakeholder engagement remains scarce in basic brain research. However, it can greatly improve the relevance of investigations and accelerate the translation of study findings to policy. The Lifebrain consortium...
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...
A data-driven model of brain volume changes in progressive supranuclear palsy.
WJ Scotton, M Bocchetta, E Todd, DM Cash, N Oxtoby, L VandeVrede, H Heuer, 4RTNI Consortium PROSPECT Consortium, DC Alexander, JB Rowe, HR Morris, A Boxer, JD Rohrer, PA Wijeratne
Jun 29, 2022
The most common clinical phenotype of progressive supranuclear palsy is Richardson syndrome, characterized by levodopa unresponsive symmetric parkinsonism, with a vertical supranuclear gaze palsy, early falls and cognitive...
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...
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
George F Mells, James AB Floyd, Katherine I Morley, Heather J Cordell, Christopher S Franklin, So-Youn Shin, Michael A Heneghan, James M Neuberger, Peter T Donaldson, Darren B Day, Samantha J Ducker, Agnes W Muriithi, Elizabeth F Wheater, Christopher J Hammond, Muhammad F Dawwas, UK PBC Consortium, Wellcome Trust Case Control Consortium 3, David E Jones, Leena Peltonen, Graeme J Alexander, Richard N Sandford, Carl A Anderson
Dec 15, 2020
In addition to the HLA locus, six genetic risk factors for primary biliary cirrhosis (PBC) have been identified in recent genome-wide association studies (GWAS). To identify additional loci, we carried out a GWAS using 1,840...
Adaptive Immunity B7-1 Antigen Case-Control Studies Cohort Studies Databases Genetic Death Domain Receptor Signaling Adaptor Proteins Female Genetic Predisposition to Disease Genome-Wide Association Study Guanine Nucleotide Exchange Factors Humans Immunity Innate Lectins C-Type Linkage Disequilibrium Liver Cirrhosis Biliary Male Monosaccharide Transport Proteins NF-kappa B p50 Subunit Polymorphism Single Nucleotide Receptors CXCR5 Receptors Interleukin-7 Receptors Tumor Necrosis Factor Type I Risk Factors STAT4 Transcription Factor
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...
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...
Associations of Alzheimer's disease risk variants with gene expression, amyloidosis, tauopathy, and neurodegeneration.
Meng-Shan Tan, Yu-Xiang Yang, Wei Xu, Hui-Fu Wang, Lin Tan, Chuan-Tao Zuo, Qiang Dong, Lan Tan, John Suckling, Jin-Tai Yu, Alzheimer’s Disease Neuroimaging Initiative
Mar 12, 2021
BACKGROUND: Genome-wide association studies have identified more than 30 Alzheimer's disease (AD) risk genes, although the detailed mechanism through which all these genes are associated with AD pathogenesis remains unknown. We...
A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank.
Xueyi Shen, David M Howard, Mark J Adams, W David Hill, Toni-Kim Clarke, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Ian J Deary, Heather C Whalley, Andrew M McIntosh
May 08, 2021
Depression is a leading cause of worldwide disability but there remains considerable uncertainty regarding its neural and behavioural associations. Here, using non-overlapping Psychiatric Genomics Consortium (PGC) datasets as a...
Genetic map of regional sulcal morphology in the human brain from UK biobank data.
Benjamin B Sun, Stephanie J Loomis, Fabrizio Pizzagalli, Natalia Shatokhina, Jodie N Painter, Christopher N Foley, Biogen Biobank Team, Megan E Jensen, Donald G McLaren, Sai Spandana Chintapalli, Alyssa H Zhu, Daniel Dixon, Tasfiya Islam, Iyad Ba Gari, Heiko Runz, Sarah E Medland, Paul M Thompson, Neda Jahanshad, Christopher D Whelan
Oct 14, 2022
Genetic associations with macroscopic brain structure can provide insights into brain function and disease. However, specific associations with measures of local brain folding are largely under-explored. Here, we conducted...
Alcohol intake and risk of colorectal cancer
JY Park, CC Dahm, RH Keogh, PN Mitrou, BJ Cairns, DC Greenwood, EA Spencer, IS Fentiman, MJ Shipley, EJ Brunner, JE Cade, VJ Burley, GD Mishra, D Kuh, AM Stephen, IR White, RN Luben, AA Mulligan, K-T Khaw, SA Rodwell
Nov 25, 2021
BACKGROUND: Epidemiological studies have suggested that excessive alcohol intake increases colorectal cancer (CRC) risk. However, findings regarding tumour subsites and sex differences have been inconsistent. METHODS: We...
Clinical and pathological associations of PTEN expression in ovarian cancer
Filipe Correia Martins, Dominique-Laurent Couturier, Anna Paterson, Anthony N. Karnezis, Christine Chow, Tayyebeh M. Nazeran, Adekunle Odunsi, Aleksandra Gentry-Maharaj, Aleksandra Vrvilo, Alexander Hein, Aline Talhouk, Ana Osorio, Andreas D. Hartkopf, Angela Brooks-Wilson, Anna DeFazio, Anna Fischer, Arndt Hartmann, Brenda Y. Hernandez, Bryan M. McCauley, Chloe Karpinskyj, Christiani B. de Sousa, Claus Høgdall, Daniel G. Tiezzi, Esther Herpel, Florin Andrei Taran, Francesmary Modugno, Gary Keeney, Gregg Nelson, Helen Steed, Honglin Song, Hugh Luk, Javier Benitez, Jennifer Alsop, Jennifer M. Koziak, Jenny Lester, Joseph H. Rothstein, Jurandyr M. de Andrade, Lene Lundvall, Luis Paz-Ares, Luis Robles-Díaz, Lynne R. Wilkens, Maria J. Garcia, Maria P. Intermaggio, Marie-Lyne Alcaraz, Mary A. Brett, Matthias W. Beckmann, Mercedes Jimenez-Linan, Michael Anglesio, Michael E. Carney, Michael Schneider, Nadia Traficante, Nadja Pejovic, Naveena Singh, Nhu Le, Peter Sinn, Prafull Ghatage, Ramona Erber, Robert Edwards, Robert Vierkant, Roberta B. Ness, Samuel Leung, Sandra Orsulic, Sara Y. Brucker, Scott H. Kaufmann, Sian Fereday, Simon Gayther, Stacey J. Winham, Stefan Kommoss, Tanja Pejovic, Teri A. Longacre, Valerie McGuire, Valerie Rhenius, Weiva Sieh, Yurii B. Shvetsov, Alice S. Whittemore, Annette Staebler, Beth Y. Karlan, Cristina Rodriguez-Antona, David D. Bowtell, Ellen L. Goode, Estrid Høgdall, Francisco J. Candido dos Reis, Jacek Gronwald, Jenny Chang-Claude, Kirsten B. Moysich, Linda E. Kelemen, Linda S. Cook, Marc T. Goodman, Peter A. Fasching, Robin Crawford, Suha Deen, Usha Menon, David G. Huntsman, Martin Köbel, Susan J. Ramus, Paul D. P. Pharoah, James D. Brenton
Sep 01, 2020
Abstract: Background: PTEN loss is a putative driver in histotypes of ovarian cancer (high-grade serous (HGSOC), endometrioid (ENOC), clear cell (CCOC), mucinous (MOC), low-grade serous (LGSOC)). We aimed to characterise PTEN...
Genetic map of regional sulcal morphology in the human brain from UK biobank data.
Benjamin B Sun, Stephanie J Loomis, Fabrizio Pizzagalli, Natalia Shatokhina, Jodie N Painter, Christopher N Foley, Biogen Biobank Team, Megan E Jensen, Donald G McLaren, Sai Spandana Chintapalli, Alyssa H Zhu, Daniel Dixon, Tasfiya Islam, Iyad Ba Gari, Heiko Runz, Sarah E Medland, Paul M Thompson, Neda Jahanshad, Christopher D Whelan
Nov 16, 2022
Genetic associations with macroscopic brain structure can provide insights into brain function and disease. However, specific associations with measures of local brain folding are largely under-explored. Here, we conducted...
Association of p16 expression with prognosis varies across ovarian carcinoma histotypes
Peter F Rambau, Robert A Vierkant, Maria P Intermaggio, Linda E Kelemen, Marc T Goodman, Esther Herpel, Paul D Pharoah, Stefan Kommoss, Mercedes Jimenez-Linan, Beth Y Karlan, Aleksandra Gentry-Maharaj, Usha Menon, Susanna Hernando Polo, Francisco J Candido Dos Reis, Jennifer Anne Doherty, Simon A Gayther, Raghwa Sharma, Melissa C Larson, Paul R Harnett, Emma Hatfield, Jurandyr M de Andrade, Gregg S Nelson, Helen Steed, Joellen M Schildkraut, Micheal E Carney, Estrid Høgdall, Alice S Whittemore, Martin Widschwendter, Catherine J Kennedy, Frances Wang, Qin Wang, Chen Wang, Sebastian M Armasu, Frances Daley, Penny Coulson, Micheal E Jones, Micheal S Anglesio, Christine Chow, Anna de Fazio, Montserrat García-Closas, Sara Y Brucker, Cezary Cybulski, Holly R Harris, Andreas D Hartkopf, Tomasz Huzarski, Allan Jensen, Jan Lubiński, Oleg Oszurek, Javier Benitez, Fady Mina, Annette Staebler, Florin Andrei Taran, Jana Pasternak, Aline Talhouk, Mary Anne Rossing, Joy Hendley, AOCS Group, Robert P Edwards, Sian Fereday, Francesmary Modugno, Roberta B Ness, Weiva Sieh, Mona A El-Bahrawy, Stacey J Winham, Jenny Lester, Susanne K Kjaer, Jacek Gronwald, Peter Sinn, Peter A Fasching, Jenny Chang-Claude, Kirsten B Moysich, David D Bowtell, Brenda Y Hernandez, Hugh Luk, Sabine Behrens, Mitul Shah, Audrey Jung, Prafull Ghatage, Jennifer Alsop, Kathryn Alsop, Jesús García-Donas, Pamela J Thompson, Anthony J Swerdlow, Chloe Karpinskyj, Alicia Cazorla-Jiménez, María J García, Susha Deen, Lynne R Wilkens, José Palacios, Andrew Berchuck, Jennifer M Koziak, James D Brenton, Linda S Cook, Ellen L Goode, David G Huntsman, Susan J Ramus, Martin Köbel
Nov 12, 2018
We aimed to validate the prognostic association of p16 expression in ovarian high-grade serous carcinomas (HGSC) and to explore it in other ovarian carcinoma histotypes. p16 protein expression was assessed by clinical-grade...
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...
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M Swietlik, Stefan Gräf, Nicholas W Morrell, Dennis Wang, Allan Lawrie, Martin R Wilkins, Inga Prokopenko, Christopher J Rhodes, On Behalf Of The Nihr BioResource-Rare Diseases Consortium, UK PAH Cohort Study Consortium
Jan 08, 2021
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
Blood eQTL expression quantitative trait locus Genetics pulmonary arterial hypertension Base Sequence Familial Primary Pulmonary Hypertension Female Genetic Association Studies Genetic Predisposition to Disease Genome Genome-Wide Association Study Humans Male Polymorphism Single Nucleotide pulmonary arterial hypertension Quantitative Trait Loci Sequence Analysis RNA Transcriptome
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Anna Ulrich, Pablo Otero-Núñez, John Wharton, Emilia M. Swietlik, Stefan Gräf, Nicholas W. Morrell, Dennis Wang, Allan Lawrie, Martin R. Wilkins, Inga Prokopenko, Christopher J. Rhodes, on behalf of The NIHR BioResource—Rare Diseases Consortium, UK PAH Cohort Study Consortium
Oct 23, 2020
Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...
Clinical and pathological associations of PTEN expression in ovarian cancer
Filipe Correia Martins, Dominique-Laurent Couturier, Anna Paterson, Anthony N Karnezis, Christine Chow, Tayyebeh M Nazeran, Adekunle Odunsi, Aleksandra Gentry-Maharaj, Aleksandra Vrvilo, Alexander Hein, Aline Talhouk, Ana Osorio, Andreas D Hartkopf, Angela Brooks-Wilson, Anna DeFazio, Anna Fischer, Arndt Hartmann, Brenda Y Hernandez, Bryan M McCauley, Chloe Karpinskyj, Christiani B de Sousa, Claus Høgdall, Daniel G Tiezzi, Esther Herpel, Florin Andrei Taran, Francesmary Modugno, Gary Keeney, Gregg Nelson, Helen Steed, Honglin Song, Hugh Luk, Javier Benitez, Jennifer Alsop, Jennifer M Koziak, Jenny Lester, Joseph H Rothstein, Jurandyr M de Andrade, Lene Lundvall, Luis Paz-Ares, Luis Robles-Díaz, Lynne R Wilkens, Maria J Garcia, Maria P Intermaggio, Marie-Lyne Alcaraz, Mary A Brett, Matthias W Beckmann, Mercedes Jimenez-Linan, Michael Anglesio, Michael E Carney, Michael Schneider, Nadia Traficante, Nadja Pejovic, Naveena Singh, Nhu Le, Peter Sinn, Prafull Ghatage, Ramona Erber, Robert Edwards, Robert Vierkant, Roberta B Ness, Samuel Leung, Sandra Orsulic, Sara Y Brucker, Scott H Kaufmann, Sian Fereday, Simon Gayther, Stacey J Winham, Stefan Kommoss, Tanja Pejovic, Teri A Longacre, Valerie McGuire, Valerie Rhenius, Weiva Sieh, Yurii B Shvetsov, Alice S Whittemore, Annette Staebler, Beth Y Karlan, Cristina Rodriguez-Antona, David D Bowtell, Ellen L Goode, Estrid Høgdall, Francisco J Candido Dos Reis, Jacek Gronwald, Jenny Chang-Claude, Kirsten B Moysich, Linda E Kelemen, Linda S Cook, Marc T Goodman, Peter A Fasching, Robin Crawford, Suha Deen, Usha Menon, David G Huntsman, Martin Köbel, Susan J Ramus, Paul DP Pharoah, James D Brenton
Mar 06, 2020
BACKGROUND: PTEN loss is a putative driver in histotypes of ovarian cancer (high-grade serous (HGSOC), endometrioid (ENOC), clear cell (CCOC), mucinous (MOC), low-grade serous (LGSOC)). We aimed to characterise PTEN expression...
Adenocarcinoma Clear Cell Age Factors Biomarkers Tumor Carcinoma Ovarian Epithelial Cohort Studies Down-Regulation Female Gene Knockout Techniques Humans Middle Aged Neoplasm Staging Ovarian Neoplasms PTEN Phosphohydrolase Prospective Studies Receptors Androgen Receptors Estrogen Receptors Progesterone Tissue Array Analysis Tumor Suppressor Proteins
Harmonising electronic health records for reproducible research
Hoda Abbasizanjani, Fatemeh Torabi, Stuart Bedston, Thomas Bolton, Gareth Davies, Spiros Denaxas, Rowena Griffiths, Laura Herbert, Sam Hollings, Spencer Keene, Kamlesh Khunti, Emily Lowthian, Jane Lyons, Mehrdad A Mizani, John Nolan, Cathie Sudlow, Venexia Walker, William Whiteley, Angela Wood, Ashley Akbari, CVD-COVID-UK/COVID-IMPACT Consortium
Feb 17, 2023
BACKGROUND: The CVD-COVID-UK consortium was formed to understand the relationship between COVID-19 and cardiovascular diseases through analyses of harmonised electronic health records (EHRs) across the four UK nations. Beyond...
Clinical and pathological associations of PTEN expression in ovarian cancer
Filipe Correia Martins, Dominique-Laurent Couturier, Anna Paterson, Anthony N. Karnezis, Christine Chow, Tayyebeh M. Nazeran, Adekunle Odunsi, Aleksandra Gentry-Maharaj, Aleksandra Vrvilo, Alexander Hein, Aline Talhouk, Ana Osorio, Andreas D. Hartkopf, Angela Brooks-Wilson, Anna DeFazio, Anna Fischer, Arndt Hartmann, Brenda Y. Hernandez, Bryan M. McCauley, Chloe Karpinskyj, Christiani B. de Sousa, Claus Høgdall, Daniel G. Tiezzi, Esther Herpel, Florin Andrei Taran, Francesmary Modugno, Gary Keeney, Gregg Nelson, Helen Steed, Honglin Song, Hugh Luk, Javier Benitez, Jennifer Alsop, Jennifer M. Koziak, Jenny Lester, Joseph H. Rothstein, Jurandyr M. de Andrade, Lene Lundvall, Luis Paz-Ares, Luis Robles-Díaz, Lynne R. Wilkens, Maria J. Garcia, Maria P. Intermaggio, Marie-Lyne Alcaraz, Mary A. Brett, Matthias W. Beckmann, Mercedes Jimenez-Linan, Michael Anglesio, Michael E. Carney, Michael Schneider, Nadia Traficante, Nadja Pejovic, Naveena Singh, Nhu Le, Peter Sinn, Prafull Ghatage, Ramona Erber, Robert Edwards, Robert Vierkant, Roberta B. Ness, Samuel Leung, Sandra Orsulic, Sara Y. Brucker, Scott H. Kaufmann, Sian Fereday, Simon Gayther, Stacey J. Winham, Stefan Kommoss, Tanja Pejovic, Teri A. Longacre, Valerie McGuire, Valerie Rhenius, Weiva Sieh, Yurii B. Shvetsov, Alice S. Whittemore, Annette Staebler, Beth Y. Karlan, Cristina Rodriguez-Antona, David D. Bowtell, Ellen L. Goode, Estrid Høgdall, Francisco J. Candido dos Reis, Jacek Gronwald, Jenny Chang-Claude, Kirsten B. Moysich, Linda E. Kelemen, Linda S. Cook, Marc T. Goodman, Peter A. Fasching, Robin Crawford, Suha Deen, Usha Menon, David G. Huntsman, Martin Köbel, Susan J. Ramus, Paul D. P. Pharoah, James D. Brenton
Jun 18, 2021
Abstract: Background: PTEN loss is a putative driver in histotypes of ovarian cancer (high-grade serous (HGSOC), endometrioid (ENOC), clear cell (CCOC), mucinous (MOC), low-grade serous (LGSOC)). We aimed to characterise PTEN...
Brain Health Services
Daniele Altomare, José Luis Molinuevo, Craig Ritchie, Federica Ribaldi, Emmanuel Carrera, Bruno Dubois, Frank Jessen, Laura McWhirter, Philip Scheltens, Wiesje M van der Flier, Bruno Vellas, Jean-François Démonet, Giovanni B Frisoni, European Task Force for Brain Health Services
Nov 18, 2021
Dementia has a devastating impact on the quality of life of patients and families and comes with a huge cost to society. Dementia prevention is considered a public health priority by the World Health Organization. Delaying the...
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