Clinical phenotypes and outcomes in children with multisystem inflammatory syndrome across SARS-CoV-2 variant eras: a multinational study from the 4CE consortiumResearch in context

Autor: Francesca Sperotto, Alba Gutiérrez-Sacristán, Simran Makwana, Xiudi Li, Valerie N. Rofeberg, Tianxi Cai, Florence T. Bourgeois, Gilbert S. Omenn, David A. Hanauer, Carlos Sáez, Clara-Lea Bonzel, Emily Bucholz, Audrey Dionne, Matthew D. Elias, Noelia García-Barrio, Tomás González González, Richard W. Issitt, Kate F. Kernan, Jessica Laird-Gion, Sarah E. Maidlow, Kenneth D. Mandl, Taha Mohseni Ahooyi, Cinta Moraleda, Michele Morris, Karyn L. Moshal, Miguel Pedrera-Jiménez, Mohsin A. Shah, Andrew M. South, Anastasia Spiridou, Deanne M. Taylor, Guillaume Verdy, Shyam Visweswaran, Xuan Wang, Zongqi Xia, Joany M. Zachariasse, Jane W. Newburger, Paul Avillach, James R. Aaron, Atif Adam, Giuseppe Agapito, Adem Albayrak, Giuseppe Albi, Mario Alessiani, Anna Alloni, Danilo F. Amendola, François Angoulvant, Li LLJ. Anthony, Bruce J. Aronow, Fatima Ashraf, Andrew Atz, Vidul Ayakulangara Panickan, Paula S. Azevedo, Rafael Badenes, James Balshi, Ashley Batugo, Brendin R. Beaulieu-Jones, Brett K. Beaulieu-Jones, Douglas S. Bell, Antonio Bellasi, Riccardo Bellazzi, Vincent Benoit, Michele Beraghi, José Luis Bernal-Sobrino, Mélodie Bernaux, Romain Bey, Surbhi Bhatnagar, Alvar Blanco-Martínez, Martin Boeker, John Booth, Silvano Bosari, Robert L. Bradford, Gabriel A. Brat, Stéphane Bréant, Nicholas W. Brown, Raffaele Bruno, William A. Bryant, Mauro Bucalo, Anita Burgun, Mario Cannataro, Aldo Carmona, Anna Maria Cattelan, Charlotte Caucheteux, Julien Champ, Jin Chen, Krista Y. Chen, Luca Chiovato, Lorenzo Chiudinelli, Kelly Cho, James J. Cimino, Tiago K. Colicchio, Sylvie Cormont, Sébastien Cossin, Jean B. Craig, Juan Luis Cruz-Bermúdez, Jaime Cruz-Rojo, Arianna Dagliati, Mohamad Daniar, Christel Daniel, Priyam Das, Batsal Devkota, Rui Duan, Julien Dubiel, Scott L. DuVall, Loic Esteve, Hossein Estiri, Shirley Fan, Robert W. Follett, Thomas Ganslandt, Lana X. Garmire, Nils Gehlenborg, Emily J. Getzen, Alon Geva, Rachel SJ. Goh, Tobias Gradinger, Alexandre Gramfort, Romain Griffier, Nicolas Griffon, Olivier Grisel, Pietro H. Guzzi, Larry Han, Christian Haverkamp, Derek Y. Hazard, Bing He, Darren W. Henderson, Martin Hilka, Yuk-Lam Ho, John H. Holmes, Jacqueline P. Honerlaw, Chuan Hong, Kenneth M. Huling, Meghan R. Hutch, Anne Sophie Jannot, Vianney Jouhet, Mundeep K. Kainth, Kernan F. Kate, Ramakanth Kavuluru, Mark S. Keller, Chris J. Kennedy, Daniel A. Key, Katie Kirchoff, Jeffrey G. Klann, Isaac S. Kohane, Ian D. Krantz, Detlef Kraska, Ashok K. Krishnamurthy, Sehi L'Yi, Judith Leblanc, Guillaume Lemaitre, Leslie Lenert, Damien Leprovost, Molei Liu, Ne Hooi Will Loh, Qi Long, Sara Lozano-Zahonero, Yuan Luo, Kristine E. Lynch, Sadiqa Mahmood, Adeline Makoudjou, Alberto Malovini, Chengsheng Mao, Anupama Maram, Monika Maripuri, Patricia Martel, Marcelo R. Martins, Jayson S. Marwaha, Aaron J. Masino, Maria Mazzitelli, Diego R. Mazzotti, Arthur Mensch, Marianna Milano, Marcos F. Minicucci, Bertrand Moal, Jason H. Moore, Jeffrey S. Morris, Sajad Mousavi, Danielle L. Mowery, Douglas A. Murad, Shawn N. Murphy, Thomas P. Naughton, Carlos Tadeu Breda Neto, Antoine Neuraz, Jane Newburger, Kee Yuan Ngiam, Wanjiku FM. Njoroge, James B. Norman, Jihad Obeid, Marina P. Okoshi, Karen L. Olson, Nina Orlova, Brian D. Ostasiewski, Nathan P. Palmer, Nicolas Paris, Lav P. Patel, Ashley C. Pfaff, Emily R. Pfaff, Danielle Pillion, Sara Pizzimenti, Tanu Priya, Hans U. Prokosch, Robson A. Prudente, Andrea Prunotto, Víctor Quirós-González, Rachel B. Ramoni, Maryna Raskin, Siegbert Rieg, Gustavo Roig-Domínguez, Pablo Rojo, Nekane Romero-Garcia, Paula Rubio-Mayo, Paolo Sacchi, Elisa Salamanca, Malarkodi Jebathilagam Samayamuthu, L. Nelson Sanchez-Pinto, Arnaud Sandrin, Nandhini Santhanam, Janaina C.C. Santos, Fernando J. Sanz Vidorreta, Maria Savino, Emily R. Schriver, Petra Schubert, Juergen Schuettler, Luigia Scudeller, Neil J. Sebire, Pablo Serrano-Balazote, Patricia Serre, Arnaud Serret-Larmande, Zahra Shakeri Hossein Abad, Domenick Silvio, Piotr Sliz, Jiyeon Son, Charles Sonday, Zachary H. Strasser, Amelia LM. Tan, Bryce W.Q. Tan, Byorn W.L. Tan, Suzana E. Tanni, Ana I. Terriza-Torres, Valentina Tibollo, Patric Tippmann, Emma MS. Toh, Carlo Torti, Enrico M. Trecarichi, Andrew K. Vallejos, Gael Varoquaux, Margaret E. Vella, Jill-Jênn Vie, Michele Vitacca, Kavishwar B. Wagholikar, Lemuel R. Waitman, Demian Wassermann, Griffin M. Weber, Martin Wolkewitz, Scott Wong, Xin Xiong, Ye Ye, Nadir Yehya, William Yuan, Janet J. Zahner, Alberto Zambelli, Harrison G. Zhang, Daniela Zöller, Valentina Zuccaro, Chiara Zucco

Publikováno v: EClinicalMedicine, Vol 64, Iss , Pp 102212- (2023)

Summary: Background: Multisystem inflammatory syndrome in children (MIS-C) is a severe complication of SARS-CoV-2 infection. It remains unclear how MIS-C phenotypes vary across SARS-CoV-2 variants. We aimed to investigate clinical characteristics and

Externí odkaz: https://doaj.org/article/8cb0959ec9ce4e99b1619c8db011de4a

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

Autor: Sarah E. Sheppard, Michael E. March, Christoph Seiler, Leticia S. Matsuoka, Sophia E. Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica R.C. Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J. Frieden, Thy Huynh, Joseph T. Shieh, Ian D. Krantz, Jessenia C. Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo-Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hakon Hakonarson

Publikováno v: JCI Insight, Vol 8, Iss 9 (2023)

Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the lymphatics can result in debilitating and life-threatening disease with limited treatment options. We identified 4 individuals with CCLA, lymphedema, and microcystic

Externí odkaz: https://doaj.org/article/dbb1621c63f0402d899d8812942cb9d1

Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin

Autor: Felix D. Weiss, Lesly Calderon, Yi-Fang Wang, Radina Georgieva, Ya Guo, Nevena Cvetesic, Maninder Kaur, Gopuraja Dharmalingam, Ian D. Krantz, Boris Lenhard, Amanda G. Fisher, Matthias Merkenschlager

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

A feature of cohesin mutations in patients with Cornelia de Lange Syndrome (CdLS) is intellectual disability, but the underlying mechanisms have remained obscure. Here the authors show gene expression is deregulated in CdLS neurons and is recapitulat

Externí odkaz: https://doaj.org/article/afef53aab6c24336822425f4c1c3c8be

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Autor: Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H. van Jaarsveld, Koen L. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker-Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa A. Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch-Andersen, Wallid Deb, Thomas Besnard, Marleen E.H. Simon, Karin Huijsdens-van Amsterdam, Nienke E. Verbeek, Dena Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koen Devriendt, Anneleen Boogaerts, Marjolein Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. De Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cusco, Eulàlia Rovira-Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frederic Tran-Mau-Them, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Christophe Philippe, Stéphane Bezieau, Benjamin Cogné

Publikováno v: Genetics in Medicine, 24, 1774-1780
Genetics in Medicine, 24(8), 1774-1780. Nature Publishing Group
Genetics in Medicine, 24, 8, pp. 1774-1780

Contains fulltext : 282702.pdf (Publisher’s version ) (Open Access) PURPOSE: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e95cf12828dc068fc5819781909f023b
https://doi.org/10.1016/j.gim.2022.04.011

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