Results 171 to 180 of about 527,601 (289)
A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome
Arthritis &Rheumatology, EarlyView.Objective
Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu +23 morewiley +1 more sourceHigher complement C4 gene copy number constitutes a shared genetic risk factor for giant cell arteritis and IgA vasculitis
Arthritis &Rheumatology, Accepted Article.Objective
Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...Laura Martínez‐Gutiérrez, Gonzalo Borrego‐Yaniz, José Hernández‐Rodríguez, Carlo Salvarani, María Cinta Cid, Ann W. Morgan, International GCA Consortium, Santos Castañeda, Roser Solans, Jaume Mestre‐Torres, Norberto Ortego‐Centeno, José Luis Callejas, Luis Caminal‐Montero, Marc Corbera‐Bellalta, Eugenio de Miguel, J. Bernardino Díaz‐López, María Jesús García‐Villanueva, Carmen Gómez‐Vaquero, Mercedes Guijarro‐Rojas, Ana Hidalgo‐Conde, Begoña Marí, Alfonso Reyes Ochoa, Agustín Martínez‐Berriochoa, Inmaculada C. Morado, Javier Narváez, Marc Ramentol‐Sintas, Aleida Martínez‐Zapico, Víctor Manuel Martínez‐Taboada, José A. Miranda‐Filloy, Jordi Monfort, Mercedes Pérez‐Conesa, Sergio Prieto‐ González, Enrique Raya, Raquel Ríos‐Fernández, Julio Sánchez Martín, Bernardo Sopeña, Laura Tío, Ainhoa Unzurrunzaga, Peter A Merkel, Nader Khalidi, Carol A. Langford, Steven Ytterberg, Simon Carette, Sharon Chung, David Cuthbertson, Lindsy J. Forbess, Ora Gewurz‐Singer, Gary S. Hoffman, Curry L. Koening, Kathleen M. Maksimowicz‐McKinnon, Carol A. McAlear, Larry W. Moreland, Christian Pagnoux, Philip Seo, Ulrich Specks, Robert F. Spiera, Antoine Sreih, Kenneth J. Warrington, Paul A. Monach, Michael Weisman, Augusto Vaglio, Lorenzo Beretta, Marcello Govoni, Giacomo Emmi, Marco A Cimmino, Carlo Salvarani, Torsten Witte, Thomas Neumann, Julia Holle, Verena Schönau, Peter Lamprecht, Sebastian Klapa, Gregory Pugnet, Thomas Papo, Julien Haroche, Alfred Mahr, Luc Mouthon, Øyvind Molberg, Andreas P. Diamantopoulo, Alexandre Voskuyl, Yannick van Sleen, Elisabeth Brouwer, Thomas Daikeler, Christoph T. Berger, Eamonn S. Molloy, UK GCA Consortium, Sarah L Mackie, Louise Sorensen, Lubna Haroon Raashid, Steve Martin, Robinson James I, Oliver Wordsworth, Isobel Whitwell, Jessica Brock, Victoria Douglas, Chamila Hettiarachchi, Jacqui Bartholomew, Stephen Jarrett, Gayle Smithson, Michael Green, Pearl Clark Brown, Cathy Lawson, Esther Gordon, Suzanne Lane, Rebecca Francis, Bhaskar Dasgupta, Bridgett Masunda, Jo Calver, Yusuf Patel, Charlotte Thompson, Louise Gregory, Sarah Levy, Ajit Menon, Amy Thompson, Lisa Dyche, Michael Martin, Charles Li, Ramasharan Laxminarayan, Louise Wilcox, Ralph de Guzman, John Isaacs, Alice Lorenzi, Gary Reynolds, Ross Farley, Helain Hinchcliffe‐Hume, Victoria Bejarano, Susan Hope, Pradip Nandi, Lynne Stockham, Catherine Wilde, Donna Durrant, Mark Lloyd, CheeSeng Ye, Rob Stevens, Amjad Jilani, David Collins, Suzannah Pegler, Ali Rivett, Liz Price, Neil McHugh, Sarah Skeoch, Diana O'Kane, Sue Kirkwood, Saravanan Vadivelu, Susan Pugmire, Shabina Sultan, Emma Dooks, Lisa Armstrong, Hala Sadik, Anupama Nandagudi, Tolu Abioye, Angelo Ramos, Steph Gumus, Nidhi Sofat, Abiola Harrison, Abi Seward, Susan Mollan, Ray Rahan, Helen Hawkins, Hedley Emsley, Anna Bhargava, Vicki Fleming, Marianne Hare, Sonia Raj, Emmanuel George, Nicola Allen, Karl Hunter, Eoin O'Sullivan, Georgina Bird, Malgorzata Magliano, Katarina Manzo, Bobbie Sanghera, David Hutchinson, Fiona Hammonds, Poonam Sharma, Richard Cooper, Graeme McLintock, Zaid S. Al‐Saffar, Mike Green, Kerry Elliott, Tania Neale, Janine Mallinson, Peter Lanyon, Marie‐Josephe Pradere, Natasha Jordan, Ei Phyu Htut, Thelma Mushapaidzi, Donna Abercrombie, Sam Wright, Jane Rowlands, Chetan Mukhtyar, James Kennedy, Damodar Makkuni, Elva Wilhelmsen, Michael Kouroupis, Shweta Bhagat, Lily John, Rod Hughes, Margaret Walsh, Marie Buckley, Kirsten Mackay, Tracey Camden‐Woodley, Joan Redome, Kirsty Pearce, Thiraupathy Marianayagam, Carina Cruz, Elizabeth Warner, Ishmael Atchia, Claire Walker, Karen Black, Stacey Duffy, Marwan Bukhari, Lynda Fothergill, Rebecca Jefferey, Jackie Toomey, Ceril Rhys Dillon, Carla Pothecary, Lauren Green, Tracey Toms, Linda Maher, Diana Davis, Amrinder Sayan, Mini Thankachen, Mahdi Abusalameh, Jessica Record, Asad Khan, Sam Stafford, Azza Hussein, Clare Williams, Alison Fletcher, Laura Johson, Richard Burnett, Robert Moots, Helen Frankland, James Dale, Karen Black, Kirsten Moar, Carol Hollas, Ben Parker, Derek Ridings, Sandhya Eapen, Sindhu John, Jo Robson, Lucy Belle Guthrie, Rose Fyfe, Moira Tait, Jonathan Marks, Emma Gunter, Rochelle Hernandez, Smita Bhat, Paul Johnston, Muhammad Khurshid, Charlotte Barclay, Deepti Kapur, Helen Jeffrey, Anna Hughes, Lauren Slack, Eleri Thomas, Anna Royon, Angela Hall, Jon King, Sindi Nyathi, Vanessa Morris, Madhura Castelino, Ellie Hawkins, Linda Tomson, Animesh Singh, Annalyn Nunag, Stella O'Connor, Nathan Rushby, Nicola Hewitson, Kenny O'Sunmboye, Adam Lewszuk, Louise Boyles, Martin Perry, Emma Williams, Christine Graver, Emmanuel Defever, Sanjeet Kamanth, Dominic Kay, Joe Ogor, Louise Winter, Sarah Horton, Gillian Welch, Kath Hollinshead, James Peters, Julius Labao, Andrea Dmello, Julie Dawson, Denise Graham, Denise De Lord, Jo Deery, Tracy Hazelton, Miguel Ángel González‐Gay, Javier Martín, Ana Márquez, Martin Kerick +296 morewiley +1 more sourcePharmacogenetic CYP2B6 variants affect steroid hormone metabolism in human breast cancer cells
British Journal of Clinical Pharmacology, EarlyView.Common genetic CYP2B6 variants correlate with adverse breast cancer outcome. The oestrogen metabolites estriol and 16‐epiestriol, which are formed downstream of CYP2B6‐catalysed 16α/β‐hydroxytestosterone, may be linked to elevated breast cancer risk and might increase due to the demonstrated CYP2B6 variants‐related metabolic shifts.Marco Hoffmann, Julian Peter Müller, Stefan Düsterhöft, Sabrina Yamoune, Katja Susanne Just, Julia Carolin Stingl +5 morewiley +1 more sourceGenome-wide fine-mapping improves identification of causal variants. [PDF]
Nat GenetWu Y, Zheng Z, Thibaut L, Lin T, Feng Q, Cheng H, Yengo L, Goddard ME, Wray NR, Visscher PM, Zeng J. +10 moreeuropepmc +1 more sourceAdaptive Genomic Divergence Across Altitudes in Capsella bursa‐pastoris
Biological Diversity, EarlyView.Genomic divergence was observed between high‐altitude and low‐altitude populations of Capsella bursa‐pastoris in China, consistent with an important role of ecological factors. Candidate adaptive loci associated with enhanced energy metabolism, photoprotection, and growth plasticity under altitudinal stress were identified.Lu Liu, Jia Li, Xin Liu, Xue‐Jun Ge, Hui‐Run Huang +4 morewiley +1 more source
