Editorial: Current Insights Into LAMA2 Disease حسب Stefano C. Previtali, Ronald D. Cohn, Ronald D. Cohn, Markus A. Ruegg

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The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free... حسب Ori Scott, Ori Scott, Ori Scott, Shagana Visuvanathan, Emily Reddy, Deeqa Mahamed, Bin Gu, Bin Gu, Chaim M. Roifman, Chaim M. Roifman, Ronald D. Cohn, Ronald D. Cohn, Ronald D. Cohn, Cynthia J. Guidos, Cynthia J. Guidos, Evgueni A. Ivakine

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Respiratory Failure Secondary to Human Metapneumovirus Requiring Extracorporeal Membrane Oxygenation in a 32-Month-Old Child حسب Abha Gupta, Melania Bembea, Anna Brown, Courtney Robertson, Lewis Romer, Ronald D. Cohn

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STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses حسب Ori Scott, Kyle Lindsay, Steven Erwood, Antonio Mollica, Chaim M. Roifman, Ronald D. Cohn, Evgueni A. Ivakine

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Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with an IRAK1-MECP2 duplication حسب Samar Z. Rizvi, Wing Suen Chan, Eleonora Maino, Sydney Steiman, Georgiana Forguson, Maya Klepfish, Ronald D. Cohn, Evgueni A. Ivakine

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Denervation atrophy is independent from Akt and mTOR activation and is not rescued by myostatin inhibition حسب Elizabeth M. MacDonald, Eva Andres-Mateos, Rebeca Mejias, Jessica L. Simmers, Ruifa Mi, Jae-Sung Park, Stephanie Ying, Ahmet Hoke, Se-Jin Lee, Ronald D. Cohn

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Prevention of early-onset cardiomyopathy in Dmd exon 52–54 deletion mice by CRISPR-Cas9-mediated exon skipping حسب Matthew Rok, Tatianna Wai Ying Wong, Eleonora Maino, Abdalla Ahmed, Grace Yang, Elzbieta Hyatt, Kyle Lindsay, Sina Fatehi, Ryan Marks, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn

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A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy حسب Tatianna Wai Ying Wong, Abdalla Ahmed, Grace Yang, Eleonora Maino, Sydney Steiman, Elzbieta Hyatt, Parry Chan, Kyle Lindsay, Nicole Wong, Diane Golebiowski, Joel Schneider, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn

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An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome حسب Eleonora Maino, Ori Scott, Samar Z. Rizvi, Wing Suen Chan, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, Evgueni A. Ivakine

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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study حسب Iris Cohn, Tara A. Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito

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Anti-CRISPR AcrIIA5 Potently Inhibits All Cas9 Homologs Used for Genome Editing حسب Bianca Garcia, Jooyoung Lee, Alireza Edraki, Yurima Hidalgo-Reyes, Steven Erwood, Aamir Mir, Chantel N. Trost, Uri Seroussi, Sabrina Y. Stanley, Ronald D. Cohn, Julie M. Claycomb, Erik J. Sontheimer, Karen L. Maxwell, Alan R. Davidson

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Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression حسب Eleonora Maino, Daria Wojtal, Sonia L Evagelou, Aiman Farheen, Tatianna W Y Wong, Kyle Lindsay, Ori Scott, Samar Z Rizvi, Elzbieta Hyatt, Matthew Rok, Shagana Visuvanathan, Amanda Chiodo, Michelle Schneeweiss, Evgueni A Ivakine, Ronald D Cohn

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Impaired skeletal muscle regeneration in the absence of fibrosis during hibernation in 13-lined ground squirrels. حسب Eva Andres-Mateos, Rebeca Mejias, Arshia Soleimani, Brian M Lin, Tyesha N Burks, Ruth Marx, Benjamin Lin, Richard C Zellars, Yonggang Zhang, David L Huso, Tom G Marr, Leslie A Leinwand, Dana K Merriman, Ronald D Cohn

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International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease حسب Katherine B. Howell, Susan M. White, Amy McTague, Alissa M. D’Gama, Gregory Costain, Annapurna Poduri, Ingrid E. Scheffer, Vann Chau, Lindsay D. Smith, Sarah E. M. Stephenson, Monica Wojcik, Andrew Davidson, Neil Sebire, Piotr Sliz, Alan H. Beggs, Lyn S. Chitty, Ronald D. Cohn, Christian R. Marshall, Nancy C. Andrews, Kathryn N. North, J. Helen Cross, John Christodoulou, Stephen W. Scherer

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Activation of serum/glucocorticoid‐induced kinase 1 (SGK1) is important to maintain skeletal muscle homeostasis and prevent atrophy حسب Eva Andres‐Mateos, Heinrich Brinkmeier, Tyesha N. Burks, Rebeca Mejias, Daniel C. Files, Martin Steinberger, Arshia Soleimani, Ruth Marx, Jessica L. Simmers, Benjamin Lin, Erika Finanger Hedderick, Tom G. Marr, Brian M. Lin, Christophe Hourdé, Leslie A. Leinwand, Dietmar Kuhl, Michael Föller, Silke Vogelsang, Ivan Hernandez‐Diaz, Dana K. Vaughan, Diego Alvarez de la Rosa, Florian Lang, Ronald D. Cohn

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