Search Results - Raphaela Goldbach-Mansky

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  1. 1

    Human Autoinflammatory Diseases Mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome Dysregulation Updates on Diagnosis, Treatment, and the Respective Roles of IL-1 and IL-18 by Sara Alehashemi, Raphaela Goldbach-Mansky

    Published in Frontiers in Immunology (2020-08-01)
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  2. 2

    Editorial: Insights in autoimmune and autoinflammatory disorders: 2021 by Raphaela Goldbach-Mansky, Betty Diamond

    Published in Frontiers in Immunology (2022-12-01)
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  3. 3

    Clemastine fumarate accelerates accumulation of disability in progressive multiple sclerosis by enhancing pyroptosis by Joanna Kocot, Peter Kosa, Shinji Ashida, Nicolette A. Pirjanian, Raphaela Goldbach-Mansky, Karin Peterson, Valentina Fossati, Steven M. Holland, Bibiana Bielekova

    Published in The Journal of Clinical Investigation (2025-05-01)
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  4. 4

    Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene by Rebecca Harper, Quan Yu, Yangtenyu Liu, Dan Yang, Jizhong Zou, Jeanette Beers, Adriana A. de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm, Guibin Chen

    Published in Stem Cell Research (2022-10-01)
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  5. 5

    Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib by Ali Jabbari, Zhenpeng Dai, Luzhou Xing, Jane E. Cerise, Yuval Ramot, Yackov Berkun, Gina A. Montealegre Sanchez, Raphaela Goldbach-Mansky, Angela M. Christiano, Raphael Clynes, Abraham Zlotogorski

    Published in EBioMedicine (2015-04-01)
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  6. 6

    Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene by Isabella Varea, Benjamin Joseph, Kevin Emmerich, Sahana Manohar-Sindhu, Jizhong Zou, Kip Friend, Xuming Tang, Dan Yang, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm

    Published in Stem Cell Research (2024-10-01)
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  7. 7

    Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation by Benjamin Joseph, Isabella Varea, Kevin Emmerich, Sahana Manohar-Sindhu, Jizhong Zou, Kip Friend, Caleb Sipwoli, Xuming Tang, Dan Yang, Adriana A de Jesus Rasheed, Raphaela Goldbach-Mansky, Manfred Boehm

    Published in Stem Cell Research (2024-10-01)
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  8. 8

    Development of nitroalkene-based inhibitors to target STING-dependent inflammation by Fei Chang, Camilla Gunderstofte, Nicole Colussi, Mareena Pitts, Sonia R. Salvatore, Anne L. Thielke, Lucia Turell, Beatriz Alvarez, Raphaela Goldbach-Mansky, Luis Villacorta, Christian K. Holm, Francisco J. Schopfer, Anne Louise Hansen

    Published in Redox Biology (2024-08-01)
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  9. 9

    Proceedings from the 2nd Next Gen Therapies for Systemic Juvenile Idiopathic Arthritis and Macrophage Activation Syndrome symposium held on October 3-4, 2019 by Scott W. Canna, Grant S. Schulert, Adriana de Jesus, Alex Pickering, Hermine Brunner, Massimo Gadina, Stewart Levine, Raphaela Goldbach-Mansky, Jonathan Boutelle, Rashmi Sinha, Fabrizio DeBenedetti, Alexei Grom, on behalf of the NextGen 2019 Participants

    Published in Pediatric Rheumatology Online Journal (2020-07-01)
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  10. 10

    IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies by Laura A. Adang, Russell D’Aiello, Asako Takanohashi, Sarah Woidill, Francesco Gavazzi, Edward M. Behrens, Kathleen E. Sullivan, Raphaela Goldbach-Mansky, Adriana A. de Jesus, AGS Clinical Trial Readiness Workgroup, Adeline Vanderver, Justine Shults

    Published in JCI Insight (2024-07-01)
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  11. 11

    Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation by María Soledad Caldirola, María Soledad Caldirola, Analía Gisela Seminario, Analía Gisela Seminario, Paula Carolina Luna, Renata Curciarello, Guillermo Horacio Docena, Nicolás Fernandez Escobar, Guillermo Drelichman, Marco Gattorno, Adriana A. de Jesus, Raphaela Goldbach-Mansky, María Isabel Gaillard, María Isabel Gaillard, Liliana Bezrodnik

    Published in Frontiers in Pediatrics (2023-03-01)
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  12. 12

    Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress by Alberto Iannuzzo, Selket Delafontaine, Rana El Masri, Rachida Tacine, Giusi Prencipe, Masahiko Nishitani-Isa, Rogier T. A. van Wijck, Farzana Bhuyan, Adriana A. de Jesus Rasheed, Simona Coppola, Paul L. A. van Daele, Antonella Insalaco, Raphaela Goldbach-Mansky, Takahiro Yasumi, Marco Tartaglia, Isabelle Meyts, Jérôme Delon

    Published in Nature Communications (2024-11-01)
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  13. 13

    Establishing 20S Proteasome Genetic, Translational and Post-Translational Status from Precious Biological and Patient Samples with Top-Down MS by Angelique Sanchez Dafun, Dušan Živković, Stephen Adonai Leon-Icaza, Sophie Möller, Carine Froment, Delphine Bonnet, Adriana Almeida de Jesus, Laurent Alric, Muriel Quaranta-Nicaise, Audrey Ferrand, Céline Cougoule, Etienne Meunier, Odile Burlet-Schiltz, Frédéric Ebstein, Raphaela Goldbach-Mansky, Elke Krüger, Marie-Pierre Bousquet, Julien Marcoux

    Published in Cells (2023-03-01)
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  14. 14

    Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience by Deepti Suri, Amit Rawat, Ankur Kumar Jindal, Pandiarajan Vignesh, Anju Gupta, Rakesh Kumar Pilania, Vibhu Joshi, Kanika Arora, Rajni Kumrah, Gummadi Anjani, Amita Aggarwal, Shubha Phadke, Fouzia N. Aboobacker, Biju George, Eunice Sindhuvi Edison, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Abdulwahab Pandrowala, Sagar Bhattad, Swati Kanakia, Marco Gottorno, Isabella Ceccherini, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Michael S. Hershfield, Surjit Singh

    Published in Frontiers in Immunology (2021-03-01)
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  15. 15

    Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype by Younglang Lee, Alex W. Wessel, Jiazhi Xu, Julia G. Reinke, Eries Lee, Somin M. Kim, Amy P. Hsu, Jevgenia Zilberman-Rudenko, Sha Cao, Clinton Enos, Stephen R. Brooks, Zuoming Deng, Bin Lin, Adriana A. de Jesus, Daniel N. Hupalo, Daniela G.P. Piotto, Maria T. Terreri, Victoria R. Dimitriades, Clifton L. Dalgard, Steven M. Holland, Raphaela Goldbach-Mansky, Richard M. Siegel, Eric P. Hanson

    Published in The Journal of Clinical Investigation (2022-03-01)
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  16. 16

    Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS) by Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, Daniela Gerent Petry Piotto, Anna Kozlova, Maria Teresa Terreri, Anna Shcherbina, Andre Rastegar, Marta Rodrigues, Renan Pereira, Sophia Park, Bin Lin, Kat Uss, Sophie Möller, Ana Flávia da Silva Pina, Flavio Sztajnbok, Sofia Torreggiani, Julie Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Andrew J. Oler, Colton McNinch, Marietta M. de Guzman, Adriana Fonseca, Nicole Micheloni, Melissa Mariti Fraga, Sandro Félix Perazzio, Raphaela Goldbach-Mansky, Adriana A. de Jesus, Elke Krüger

    Published in Frontiers in Immunology (2023-08-01)
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  17. 17

    Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome by Adriana A. de Jesus, Guibin Chen, Dan Yang, Tomas Brdicka, Natasha M. Ruth, David Bennin, Dita Cebecauerova, Hana Malcova, Helen Freeman, Neil Martin, Karel Svojgr, Murray H. Passo, Farzana Bhuyan, Sara Alehashemi, Andre T. Rastegar, Katsiaryna Uss, Lela Kardava, Bernadette Marrero, Iris Duric, Ebun Omoyinmi, Petra Peldova, Chyi-Chia Richard Lee, David E. Kleiner, Colleen M. Hadigan, Stephen M. Hewitt, Stefania Pittaluga, Carmelo Carmona-Rivera, Katherine R. Calvo, Nirali Shah, Miroslava Balascakova, Danielle L. Fink, Radana Kotalova, Zuzana Parackova, Lucie Peterkova, Daniela Kuzilkova, Vit Campr, Lucie Sramkova, Angelique Biancotto, Stephen R. Brooks, Cameron Manes, Eric Meffre, Rebecca L. Harper, Hyesun Kuehn, Mariana J. Kaplan, Paul Brogan, Sergio D. Rosenzweig, Melinda Merchant, Zuoming Deng, Anna Huttenlocher, Susan L. Moir, Douglas B. Kuhns, Manfred Boehm, Karolina Skvarova Kramarzova, Raphaela Goldbach-Mansky

    Published in Nature Communications (2023-03-01)
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