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PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue by Melanie J. Ludlow, Oleksandr V. Povstyan, Deborah M. Linley, Silvia Martin-Almedina, Charlotte Revill, Kevin Cuthbertson, Katie A. Smith, Emily Fay, Elisavet Fotiou, Andrew Bush, Claire Hogg, Tobias Linden, Natalie B. Tan, Susan M. White, Juan C. Del Rey Jimenez, Ege Sackey, Esther Dempsey, Sahar Mansour, Gregory Parsonage, Antreas C. Kalli, Richard Foster, Pia Ostergaard, David J. Beech
Published 2025-08-01Get full text
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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases by Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan Stait, Simone Tregoning, Leah E. Frajman, Adam M. Bournazos, David R. L. Robinson, Megan Ball, Boris Reljic, Bryony Ryder, Mathew J. Wallis, Anand Vasudevan, Cara Beck, Heidi Peters, Joy Lee, Natalie B. Tan, Mary-Louise Freckmann, MitoMDT Diagnostic Network for Genomics and Omics, Vasiliki Karlaftis, Chantal Attard, Paul Monagle, Amanda Samarasinghe, Rosie Brown, Weimin Bi, Monkol Lek, Robert McFarland, Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper, Zornitza Stark, John Christodoulou, Alison G. Compton, David R. Thorburn, David A. Stroud
Published 2025-05-01Get full text
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