Výsledky vyhledávání - "Zuoming Deng"

Akademický článek

Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study

Autor: Mark Yun, Zuoming Deng, Brianne Navetta-Modrov, Baozhong Xin, Jie Yang, Hafsa Nomani, Olga Aroniadis, Peter D. Gorevic, Qingping Yao

Publikováno v: Frontiers in Immunology, Vol 14 (2024)

ObjectivesCryopyrin-associated periodic syndrome or NLRP3-associated autoinflammatory disease (NLRP3-AID) and NLRP12-AID are both Mendelian disorders with autosomal dominant inheritance. Both diseases are rare, primarily reported in the pediatric pop

Externí odkaz: https://doaj.org/article/3b37f0562fa14d03a02ac1612bfb9dbc

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Akademický článek

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

Autor: 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

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

Neutrophilic inflammation is a hallmark of many monogenic autoinflammatory diseases. Here the authors report a case series of three unrelated boys with perinatal-onset of neutrophilic cutaneous small vessel vasculitis and systemic inflammation, and i

Externí odkaz: https://doaj.org/article/ae467ac9fc384475ae6d8259f8ad7971

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Akademický článek

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases

Autor: Hafsa Nomani, Zuoming Deng, Brianne Navetta-Modrov, Jie Yang, Mark Yun, Olga Aroniadis, Peter Gorevic, Ivona Aksentijevich, Qingping Yao

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

NOD-like receptors (NLRs) are intracellular sensors associated with systemic autoinflammatory diseases (SAIDs). We investigated the largest monocentric cohort of patients with adult-onset SAIDs for coinheritance of low frequency and rare mutations in

Externí odkaz: https://doaj.org/article/da0e8f59ea254d9a8de9ea6476c7b0fa

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Akademický článek

Risk of relapse of ANCA-associated vasculitis among patients homozygous for the proteinase 3 gene Val119Ile polymorphism

Autor: John H Stone, Peter C Grayson, Ulrich Specks, E William St Clair, Peter A Merkel, Philip Seo, Carol A Langford, Paul A Monach, Cees G M Kallenberg, Robert F Spiera, Fernando C Fervenza, Zuoming Deng, Wei Tew, Marta Casal Moura, Stephen R Brooks, Marco Prunotto

Publikováno v: RMD Open, Vol 9, Iss 1 (2023)

Background The frequency of proteinase 3 gene (PRTN3) polymorphisms in patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is not fully characterised. We hypothesise that the presence of a PRTN3 gene polymorphism (sin

Externí odkaz: https://doaj.org/article/6bc5f2edf8284a2885c3e9a25bbce574

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Akademický článek

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

Publikováno v: The Journal of Clinical Investigation, Vol 132, Iss 6 (2022)

Host defense and inflammation are regulated by the NF-κB essential modulator (NEMO), a scaffolding protein with a broad immune cell and tissue expression profile. Hypomorphic mutations in inhibitor of NF-κB kinase regulatory subunit gamma (IKBKG) e

Externí odkaz: https://doaj.org/article/d9641e906dc34284b7685c0423b10cf5

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Akademický článek

Somatic activating mutations in MAP2K1 cause melorheostosis

Autor: Heeseog Kang, Smita Jha, Zuoming Deng, Nadja Fratzl-Zelman, Wayne A. Cabral, Aleksandra Ivovic, Françoise Meylan, Eric P. Hanson, Eileen Lange, James Katz, Paul Roschger, Klaus Klaushofer, Edward W. Cowen, Richard M. Siegel, Joan C. Marini, Timothy Bhattacharyya

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)

Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associate

Externí odkaz: https://doaj.org/article/09b0dd3aa7ac4ad59c6710da313a7a43

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