Publications by authors named "Seth L Masters"

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Monogenic disorders of the TNF signalling pathway.
Najoua Lalaoui, Seth L Masters

Nat Rev Rheumatol· January 2026

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Clinical Images: Periumbilical wound dehiscence and pathergy in a neonate with OTULIN-related autoinflammatory syndrome.
Hiu Laam Christy Sit, Paul E Gray, Sophia Davidson, Carolyn Russell, Seth L Masters

ACR Open Rheumatol· December 2025

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NEDD4L-mediated Gasdermin D and E ubiquitination regulates cell death and tissue injury.
Sonia S Shah, Jantina A Manning, Yoon Lim, Diva Sinha, Ambika Mosale Venkatesh Murthy, Seth L Masters

Cell Death Differ· November 2025

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NLRP3 inflammasome-driven hemophagocytic lymphohistiocytosis occurs independent of IL-1β and IL-18 and is targetable by BET inhibitors.
Farzaneh Shojaee, Esmaeel Azadian, Min Xian Wong, Xiuquan Ma, James Rickard, Seth L Masters

Sci Adv· July 2025

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Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency.
András N Spaan, Bertrand Boisson, Seth L Masters

J Exp Med· May 2025

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Comment on: Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis: reply.
Thomas Reygaerts, Paul E Gray, Seth L Masters

Rheumatology (Oxford)· April 2025

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Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.
Shouya Feng, Matthew C Wierzbowski, Katja Hrovat-Schaale, Andreas Dumortier, Yaoyuan Zhang, Seth L Masters

Nat Immunol· March 2025

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Divergent roles of RIPK3 and MLKL in high-fat diet-induced obesity and MAFLD in mice.
Hazel Tye, Stephanie A Conos, Tirta M Djajawi, Timothy A Gottschalk, Nasteho Abdoulkader, Seth L Masters

Life Sci Alliance· January 2025

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Author Correction: Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.
Mahmoud Al-Azab, Elina Idiiatullina, Ziyang Liu, Meng Lin, Katja Hrovat-Schaale, Seth L Masters

Nat Immunol· October 2024

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Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy.
Elina Idiiatullina, Mahmoud Al-Azab, Meng Lin, Katja Hrovat-Schaale, Ziyang Liu, Seth L Masters

Nat Commun· August 2024

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Dominant negative OTULIN-related autoinflammatory syndrome.
Sophia Davidson, Yuri Shibata, Sophie Collard, Hongyu Zheng, Klara Kong, Seth L Masters

J Exp Med· June 2024

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Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.
Mahmoud Al-Azab, Elina Idiiatullina, Ziyang Liu, Meng Lin, Katja Hrovat-Schaale, Seth L Masters

Nat Immunol· June 2024

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Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.
Yaoyuan Zhang, Rhiannon Morris, Grant J Brown, Ayla May D Lorenzo, Xiangpeng Meng, Seth L Masters

J Exp Med· April 2024

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Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.
Thomas Reygaerts, Pawat Laohamonthonkul, Katja Hrovat-Schaale, Fiona Moghaddas, Paul J Baker, Seth L Masters

Rheumatology (Oxford)· March 2024

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G-CSF drives autoinflammation in APLAID.
Elisabeth Mulazzani, Klara Kong, Juan I Aróstegui, Ashley P Ng, Nishika Ranathunga, Seth L Masters

Nat Immunol· May 2023

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Ten things to know about NLRP10.
Seth L Masters

Nat Immunol· April 2023

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Caspase-8-driven apoptotic and pyroptotic crosstalk causes cell death and IL-1β release in X-linked inhibitor of apoptosis (XIAP) deficiency.
Sebastian A Hughes, Meng Lin, Ashley Weir, Bing Huang, Liya Xiong, Seth L Masters

EMBO J· March 2023

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Inflammasome sensor NLRP1 disease variant M1184V promotes autoproteolysis and DPP9 complex formation by stabilizing the FIIND domain.
Jonas Moecking, Pawat Laohamonthonkul, Kubilay Meşe, Gregor Hagelueken, Annemarie Steiner, Seth L Masters

J Biol Chem· December 2022

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Organellar homeostasis and innate immune sensing.
Cassandra R Harapas, Elina Idiiatullina, Mahmoud Al-Azab, Katja Hrovat-Schaale, Thomas Reygaerts, Seth L Masters

Nat Rev Immunol· September 2022

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DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
Cassandra R Harapas, Kim S Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Seth L Masters

Sci Immunol· September 2022

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ZAKα-driven ribotoxic stress response activates the human NLRP1 inflammasome.
Kim S Robinson, Gee Ann Toh, Pritisha Rozario, Rae Chua, Stefan Bauernfried, Seth L Masters

Science· July 2022

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Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS.
Chen Eitan, Aviad Siany, Elad Barkan, Tsviya Olender, Kristel R van Eijk, Seth L Masters

Nat Neurosci· April 2022

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Deficiency in coatomer complex I causes aberrant activation of STING signalling.
Annemarie Steiner, Katja Hrovat-Schaale, Ignazia Prigione, Chien-Hsiung Yu, Pawat Laohamonthonkul, Seth L Masters

Nat Commun· April 2022

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Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus.
Annemarie Steiner, Thomas Reygaerts, Alessandra Pontillo, Isabella Ceccherini, Jonas Moecking, Seth L Masters

J Clin Immunol· February 2022

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Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24.
Sophia Davidson, Chien-Hsiung Yu, Annemarie Steiner, Frédéric Ebstein, Paul J Baker, Seth L Masters

Sci Immunol· February 2022

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