Results 181 to 190 of about 73,290 (250)
ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis
Arthritis &Rheumatology, EarlyView.Objective
Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang +21 morewiley +1 more sourceStep-wise evolution of azole resistance through copy number variation followed by KSR1 loss of heterozygosity in Candida albicans. [PDF]
PLoS PathogVande Zande P, Gautier C, Kawar N, Maufrais C, Metzner K, Wash E, Beach AK, Bracken R, Maciel EI, Pereira de Sá N, Fernandes CM, Solis NV, Del Poeta M, Filler SG, Berman J, Ene IV, Selmecki A. +16 moreeuropepmc +1 more sourceHigher Complement C4 Gene Copy Number Constitutes a Shared Genetic Risk Factor for Giant Cell Arteritis and IgA Vasculitis
Arthritis &Rheumatology, EarlyView.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, UK 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, 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, Sarah L Mackie, Louise Sorensen, Lubna Haroon‐Raashid, Steve Martin, James I Robinson, 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 +295 morewiley +1 more sourceCost‐effectiveness of DPYD genotyping prior to fluoropyrimidine‐based treatment for colorectal cancer in Wales
British Journal of Clinical Pharmacology, EarlyView.Abstract Background
Regulatory guidance in the United Kingdom advises DPYD genotyping prior to fluoropyrimidine‐based treatment. This economic evaluation estimated the costs and outcomes associated with DPYD screening prior to prescribing fluoropyrimidines for colorectal cancer in Wales and also considers additional variants to those included in ...Catrin O. Plumpton, Sian M. Morgan, Richard A. Adams, Samantha Cox, Angharad A. Rudkin, Megan Fealey, Craig Barrington, Michelle D. Wood, Dyfrig A. Hughes +8 morewiley +1 more sourceUGT1A1 genotype testing for irinotecan: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)
British Journal of Clinical Pharmacology, EarlyView.Abstract
Irinotecan, a topoisomerase I inhibitor, is available as both non‐pegylated and pegylated formulations. The non‐pegylated formulation is licensed for use in advanced colorectal cancer either in combination with other agents or as monotherapy.Dharmisha Chauhan, Cinzia Dello Russo, Jack Thompson, Dyfrig A. Hughes, Katherine Payne, Maria Tsakiroglou, Paul Ross, Rena Chauhan, Simon Jenkinson, Jessica Keen, Sophie Harding, Eleanor Lau, Michael Braun, Roshan Agarwal, Richard Adams, Elisabeth Rolf, Farah Al‐Sheikhli, Sarah Mitchell, Ruth Hammond, Rosie Roberts, Lorna Cairns, Shirley Heggarty, Janet Graham, Justin Mencel, Munir Pirmohamed +24 morewiley +1 more sourceA descriptive case series of hepatotoxicity associated with CFTR modulators and possible relevance of pharmacogenetic polymorphisms in cystic fibrosis patients
British Journal of Clinical Pharmacology, EarlyView.Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are widely used in patients with cystic fibrosis and significantly improve respiratory function and quality of life. However, their effectiveness may be limited by liver damage, which sometimes leads to treatment discontinuation, and the mechanisms underlying this remain poorly ...Clara Laffitte Redondo, Venceslas Bourdin, Abd El Kader Ait Tayeb, Sihem Benaboud, Inès Martins, Caroline Joyau, Myriam Benhamida, Isabelle Sermet‐Gaudelus, Clémence Martin, Pierre Régis Burgel, Céline Verstuyft, Laurent Chouchana, Estelle Ayme‐Dietrich +12 morewiley +1 more sourceHost Cell Protein Challenges in Antibody Processing: Insights Into Persistence and Mitigation Strategies
Biotechnology and Bioengineering, EarlyView.ABSTRACT
Persistence of HCPs remains a major purification challenge in biopharmaceutical manufacturing with direct consequences for product quality, patient safety, and regulatory compliance. Over the last two decades, deeper insights into the mechanisms driving HCP persistence have clarified why certain proteins evade removal during purification ...Younghoon Oh, Andrew Cooke, Harshal Soni, Susan Liu, Mamadou Bah, Brianna Bellis, Laura Smith, Michael Capaldi, Nicholas Levy, Erik Wilhelm, Kristopher Barnthouse +10 morewiley +1 more source