An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity

Autor: Dominik Aschenbrenner, Isar Nassiri, Suresh Venkateswaran, Sumeet Pandey, Matthew Page, Lauren Drowley, Martin Armstrong, Subra Kugathasan, Benjamin Fairfax, Holm H. Uhlig

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

Abstract Despite major advances in linking single genetic variants to single causal genes, the significance of genetic variation on transcript-level regulation of expression, transcript-specific functions, and relevance to human disease has been poor

Externí odkaz: https://doaj.org/article/a2f66ea234664d8faf2951ab66b8f269

A method for the inference of cytokine interaction networks.

Autor: Joanneke E Jansen, Dominik Aschenbrenner, Holm H Uhlig, Mark C Coles, Eamonn A Gaffney

Publikováno v: PLoS Computational Biology, Vol 18, Iss 6, p e1010112 (2022)

Cell-cell communication is mediated by many soluble mediators, including over 40 cytokines. Cytokines, e.g. TNF, IL1β, IL5, IL6, IL12 and IL23, represent important therapeutic targets in immune-mediated inflammatory diseases (IMIDs), such as inflamm

Externí odkaz: https://doaj.org/article/f2398cb73db84a9b8000a43ff7df9830

Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism

Autor: Athena Cavounidis, Sumeet Pandey, Melania Capitani, Matthias Friedrich, Amy Cross, Lisa Gartner, Dominik Aschenbrenner, Seunghee Kim-Schulze, Ying Ka Lam, Georgina Berridge, Dermot P.B. McGovern, Benedikt Kessler, Roman Fischer, Paul Klenerman, Joanna Hester, Fadi Issa, Esther A. Torres, Fiona Powrie, Bernadette R. Gochuico, William A. Gahl, Louis Cohen, Holm H. Uhlig

Publikováno v: Mucosal Immunology. 15:1431-1446

Hermansky-Pudlak syndrome (HPS) types 1 and 4 are caused by defective vesicle trafficking. The mechanism for Crohn's disease-like inflammation, lung fibrosis, and macrophage lipid accumulation in these patients remains enigmatic. The aim of this stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a5eff8c85185f65fd3f0333b4d7479
https://doi.org/10.1038/s41385-022-00572-1

Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ

Autor: David J. Swan, Dominik Aschenbrenner, Christopher A. Lamb, Krishnendu Chakraborty, Jonathan Clark, Sumeet Pandey, Karin R. Engelhardt, Rui Chen, Athena Cavounidis, Yuchun Ding, Natalio Krasnogor, Christopher D. Carey, Meghan Acres, Stephanie Needham, Andrew J. Cant, Peter D. Arkwright, Anita Chandra, Klaus Okkenhaug, Holm H. Uhlig, Sophie Hambleton

Publikováno v: Haematologica, Vol 104, Iss 10 (2019)

Externí odkaz: https://doaj.org/article/4f6e2df160434dd095e8d7ffcfc30910

Constructing custom-made radiotranscriptomic signatures of vascular inflammation from routine CT angiograms: a prospective outcomes validation study in COVID-19

Autor: Christos P Kotanidis, Cheng Xie, Donna Alexander, Jonathan C L Rodrigues, Katie Burnham, Alexander Mentzer, Daniel O’Connor, Julian Knight, Muhammad Siddique, Helen Lockstone, Sheena Thomas, Rafail Kotronias, Evangelos K Oikonomou, Ileana Badi, Maria Lyasheva, Cheerag Shirodaria, Sheila F Lumley, Bede Constantinides, Nicholas Sanderson, Gillian Rodger, Kevin K Chau, Archie Lodge, Maria Tsakok, Fergus Gleeson, David Adlam, Praveen Rao, Das Indrajeet, Aparna Deshpande, Amrita Bajaj, Benjamin J Hudson, Vivek Srivastava, Shakil Farid, George Krasopoulos, Rana Sayeed, Ling-Pei Ho, Stefan Neubauer, David E Newby, Keith M Channon, John Deanfield, Charalambos Antoniades, David J Ahern, Zhichao Ai, Mark Ainsworth, Chris Allan, Alice Allcock, Brian Angus, M Azim Ansari, Carolina Arancibia-Cárcamo, Dominik Aschenbrenner, Moustafa Attar, J Kenneth Baillie, Eleanor Barnes, Rachael Bashford-Rogers, Archana Bashyal, Sally Beer, Georgina Berridge, Amy Beveridge, Sagida Bibi, Tihana Bicanic, Luke Blackwell, Paul Bowness, Andrew Brent, Andrew Brown, John Broxholme, David Buck, Helen Byrne, Susana Camara, Ivan Candido Ferreira, Philip Charles, Wentao Chen, Yi-Ling Chen, Amanda Chong, Elizabeth Clutterbuck, Mark Coles, Christopher Conlon, Richard Cornall, Adam Cribbs, Fabiola Curion, Emma Davenport, Neil Davidson, Simon Davis, Calliope Dendrou, Julie Dequaire, Lea Dib, James Docker, Christina Dold, Tao Dong, Damien Downes, Hal Drakesmith, Susanna Dunachie, David Duncan, Chris Eijsbouts, Robert Esnouf, Alexis Espinosa, Rachel Etherington, Benjamin Fairfax, Rory Fairhead, Hai Fang, Shayan Fassih, Sally Felle, Maria Fernandez Mendoza, Ricardo Ferreira, Roman Fischer, Thomas Foord, Aden Forrow, John Frater, Anastasia Fries, Veronica Gallardo Sanchez, Lucy Garner, Clementine Geeves, Dominique Georgiou, Leila Godfrey, Tanya Golubchik, Maria Gomez Vazquez, Angie Green, Hong Harper, Heather Harrington, Raphael Heilig, Svenja Hester, Jennifer Hill, Charles Hinds, Clare Hird, Renee Hoekzema, Benjamin Hollis, Jim Hughes, Paula Hutton, Matthew Jackson-Wood, Ashwin Jainarayanan, Anna James-Bott, Kathrin Jansen, Katie Jeffery, Elizabeth Jones, Luke Jostins, Georgina Kerr, David Kim, Paul Klenerman, Vinod Kumar, Piyush Kumar Sharma, Prathiba Kurupati, Andrew Kwok, Angela Lee, Aline Linder, Teresa Lockett, Lorne Lonie, Maria Lopopolo, Martyna Lukoseviciute, Jian Luo, Spyridoula Marinou, Brian Marsden, Jose Martinez, Philippa Matthews, Michalina Mazurczyk, Simon McGowan, Stuart McKechnie, Adam Mead, Yuxin Mi, Claudia Monaco, Ruddy Montadon, Giorgio Napolitani, Isar Nassiri, Alex Novak, Darragh O'Brien, Daniel O'Connor, Denise O'Donnell, Graham Ogg, Lauren Overend, Inhye Park, Ian Pavord, Yanchun Peng, Frank Penkava, Mariana Pereira Pinho, Elena Perez, Andrew Pollard, Fiona Powrie, Bethan Psaila, T Phuong Quan, Emmanouela Repapi, Santiago Revale, Laura Silva-Reyes, Jean-Baptiste Richard, Charlotte Rich-Griffin, Thomas Ritter, Christine Rollier, Matthew Rowland, Fabian Ruehle, Mariolina Salio, Stephen Nicholas Sansom, Raphael Sanches Peres, Alberto Santos Delgado, Tatjana Sauka-Spengler, Ron Schwessinger, Giuseppe Scozzafava, Gavin Screaton, Anna Seigal, Malcolm Semple, Martin Sergeant, Christina Simoglou Karali, David Sims, Donal Skelly, Hubert Slawinski, Alberto Sobrinodiaz, Nikolaos Sousos, Lizzie Stafford, Lisa Stockdale, Marie Strickland, Otto Sumray, Bo Sun, Chelsea Taylor, Stephen Taylor, Adan Taylor, Supat Thongjuea, Hannah Thraves, John Todd, Adriana Tomic, Orion Tong, Amy Trebes, Dominik Trzupek, Felicia Anna Tucci, Lance Turtle, Irina Udalova, Holm Uhlig, Erinke van Grinsven, Iolanda Vendrell, Marije Verheul, Alexandru Voda, Guanlin Wang, Lihui Wang, Dapeng Wang, Peter Watkinson, Robert Watson, Michael Weinberger, Justin Whalley, Lorna Witty, Katherine Wray, Luzheng Xue, Hing Yuen Yeung, Zixi Yin, Rebecca Young, Jonathan Youngs, Ping Zhang, Yasemin-Xiomara Zurke, Adrian Banning, Alexios Antonopoulos, Andrew Kelion, Attila Kardos, Benjamin Hudson, Bon-Kwon Koo, Christos Kotanidis, Ciara Mahon, Colin Berry, David Newby, Derek Connolly, Diane Scaletta, Ed Nicol, Elisa McAlindon, Evangelos Oikonomou, Francesca Pugliese, Gianluca Pontone, Giulia Benedetti, Guo-Wei He, Henry West, Hidekazu Kondo, Imre Benedek, Intrajeet Das, John Graby, John Greenwood, Jonathan Rodrigues, Junbo Ge, Keith Channon, Larissa Fabritz, Li-Juan Fan, Lucy Kingham, Marco Guglielmo, Matthias Schmitt, Meinrad Beer, Michelle Anderson, Milind Desai, Mohamed Marwan, Naohiko Takahashi, Nehal Mehta, Neng Dai, Nicholas Screaton, Nikant Sabharwal, Pál Maurovich-Horvat, Rajesh Kharbanda, Rebecca Preston, Richard Wood, Ron Blankstein, Ronak Rajani, Saeed Mirsadraee, Shahzad Munir, Steffen Klömpken, Steffen Petersen, Stephan Achenbach, Susan Anthony, Sze Mak, Tarun Mittal, Theodora Benedek, Vinoda Sharma, Wen-Hua Lin

Publikováno v: The Lancet. Digital Health, 4, 10, pp. e705-e716
The Lancet. Digital Health, 4, e705-e716

Contains fulltext : 286832.pdf (Publisher’s version ) (Open Access) BACKGROUND: Direct evaluation of vascular inflammation in patients with COVID-19 would facilitate more efficient trials of new treatments and identify patients at risk of long-term

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667e9c3752db2a7c11d82a56de81ce50
https://ora.ox.ac.uk/objects/uuid:eae65b13-07e0-4f03-8fff-f05e44fa1bf9