Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Lori, Broderick"'
Autor:
Lori Broderick, Shawn Yost, Dong Li, Matthew D. McGeough, Laela M. Booshehri, Marisela Guaderrama, Susannah D. Brydges, Karolina Kucharova, Niraj C. Patel, Margaret Harr, Hakon Hakonarson, Elaine Zackai, Ian G. Cowell, Caroline A. Austin, Boris Hügle, Corinna Gebauer, Jianguo Zhang, Xun Xu, Jian Wang, Ben A. Croker, Kelly A. Frazer, Christopher D. Putnam, Hal M. Hoffman
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Topoisomerases are required to release topological stress on DNA during replication and transcription. Here, Broderick et al. report genetic variants in TOP2B that cause a syndromic B cell immunodeficiency associated with reduced TOP2B function, defe
Externí odkaz:
https://doaj.org/article/f68d775e267842bf9a3e97c19180cf33
Autor:
Florian Hoss, James L. Mueller, Francisca Rojas Ringeling, Juan F. Rodriguez-Alcazar, Rebecca Brinkschulte, Gerald Seifert, Rainer Stahl, Lori Broderick, Chris D. Putnam, Richard D. Kolodner, Stefan Canzar, Matthias Geyer, Hal M. Hoffman, Eicke Latz
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Leucine-rich repeat (LRR) domains are commonly present in immune regulatory proteins. Here the authors show that LRR exonic modularity and alternative splicing of an LRR-containing protein, NLRP3, modulate the ratio of functional/afunctional NLRP3 is
Externí odkaz:
https://doaj.org/article/e8556fbf0c984427a366f6b71e4114ec
Autor:
Hratch Baghdassarian, Sarah A. Blackstone, Owen S. Clay, Rachael Philips, Brynja Matthiasardottir, Michele Nehrebecky, Vivian K. Hua, Rachael McVicar, Yang Liu, Suzanne M. Tucker, Davide Randazzo, Natalie Deuitch, Sofia Rosenzweig, Adam Mark, Roman Sasik, Kathleen M. Fisch, Pallavi Pimpale Chavan, Elif Eren, Norman R. Watts, Chi A. Ma, Massimo Gadina, Daniella M. Schwartz, Anwesha Sanyal, Giffin Werner, David R. Murdock, Nobuyuki Horita, Shimul Chowdhury, David Dimmock, Kristen Jepsen, Elaine F. Remmers, Raphaela Goldbach-Mansky, William A. Gahl, John J. O’Shea, Joshua D. Milner, Nathan E. Lewis, Johanna Chang, Daniel L. Kastner, Kathryn Torok, Hirotsugu Oda, Christopher D. Putnam, Lori Broderick
Publikováno v:
New England Journal of Medicine.
Autor:
Benedikt Kaufmann, Marta de Los Reyes Jiménez, Laela M. Booshehri, Janset Onyuru, Aleksandra Leszczynska, Anna Uri, Sven Michel, Richard Klar, Frank Jaschinski, Ariel E. Feldstein, Lori Broderick, Hal M. Hoffman
Publikováno v:
The Journal of Immunology.
Antisense oligonucleotides (ASOs) are a novel therapeutic strategy that targets a specific gene and suppresses its expression. The cryopyrin-associated periodic syndromes (CAPS) are a spectrum of autoinflammatory diseases characterized by systemic an
Publikováno v:
BMC Pediatrics, Vol 17, Iss 1, Pp 1-4 (2017)
Abstract Background Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is the second most common heritable autoinflammatory disease, typically presenting in pre-school aged children with fever episodes lasting 1–3 weeks. Systemic s
Externí odkaz:
https://doaj.org/article/9faea6764bf546d98a9aabeb3b0bbd17
Autor:
Hal Hoffman, Lori Broderick
Publikováno v:
Nature Reviews Rheumatology. 18:448-463
Autor:
Micol Romano, Z. Serap Arici, David Piskin, Sara Alehashemi, Daniel Aletaha, Karyl Barron, Susanne Benseler, Roberta A. Berard, Lori Broderick, Fatma Dedeoglu, Michelle Diebold, Karen Durrant, Polly Ferguson, Dirk Foell, Jonathan S. Hausmann, Olcay Y. Jones, Daniel Kastner, Helen J. Lachmann, Ronald M. Laxer, Dorelia Rivera, Nicolino Ruperto, Anna Simon, Marinka Twilt, Joost Frenkel, Hal M. Hoffman, Adriana A. de Jesus, Jasmin B. Kuemmerle‐Deschner, Seza Ozen, Marco Gattorno, Raphaela Goldbach‐Mansky, Erkan Demirkaya
Publikováno v:
Arthritis & Rheumatology, 74, 7, pp. 1102-1121
Arthritis Rheumatol
Annals of the Rheumatic Diseases, 81, 7, pp. 907-921
Arthritis & Rheumatology, 74, 1102-1121
Annals of the Rheumatic Diseases, 81, 907-921
Arthritis Rheumatol
Annals of the Rheumatic Diseases, 81, 7, pp. 907-921
Arthritis & Rheumatology, 74, 1102-1121
Annals of the Rheumatic Diseases, 81, 907-921
BackgroundThe interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and
Autor:
Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R.J. Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygunes, Vincent Barlogis, Ulrich Baumann, John Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy J. Bunin, Maria Soledad Caldirola, Martin Castelle, Fatih Celmeli, Louis-Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Cokugras, Niall Conlon, Fionnuala Cox, Etienne Crickx, Buket Dalgic, Virgil ASH Dalm, Silvia Danielian, Nerea Dominguez-Pinilla, Tal Dujovny, Mikael Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil Jones, Maria Kanariou, Elif Karakoc-Aydiner, Theoni Karamantziani, Charikleia Kelaidi, Mary Keogan, Ayşenur Pac Kisaarslan, Ayca Kiykim, Kosmas Kotsonis, Natalia Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea A. Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhina, Aladjidi Nathalie, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matias Oleastro, Alper Ozcan, Marlene Pasquet, José Roberto Pegler, Capucine Picard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frederic Rieux-Laucat, Yulia Rodina, Pierre Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sari, Gregory Sawicki, Uwe Schauer, Selma C. Scheffler Mendoza, Oksana Schvetz, Reinhold Ernst Schmidt, Klaus Schwarz, Anna Sediva, Kyle Sinclair, Mary Slatter, John Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Unal, Luciano Urdinez, Felisa Vazquez-Gomez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamin Wright, Ebru Yilmaz, Radana Zachova, Yu Zhang
Publikováno v:
Journal of Allergy and Clinical Immunology, 151(4), 1081-1095. Mosby Inc.
Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. Objective: This pi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe7ac03982685dd66aed0013774cc7d
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
Publikováno v:
The Journal of Allergy and Clinical Immunology: In Practice.
Autor:
Benedikt, Kaufmann, Lin, Kui, Agustina, Reca, Aleksandra, Leszczynska, Andrea D, Kim, Laela M, Booshehri, Alexander, Wree, Helmut, Friess, Daniel, Hartmann, Lori, Broderick, Hal M, Hoffman, Ariel E, Feldstein
Publikováno v:
Cellular and molecular gastroenterology and hepatology, vol 14, iss 4
Background & aimsNonalcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disease worldwide. The NLRP3 inflammasome, a platform for caspase-1 activation and release of interleukin 1β, is increasingly recognized in the induction