Search Results - "Shum, Anthony K"

A defect in COPI-mediated transport of STING causes immune dysregulation in COPA syndrome by Deng, Zimu, Chong, Zhenlu, Law, Christopher S, Mukai, Kojiro, Ho, Frances O, Martinu, Tereza, Backes, Bradley J, Eckalbar, Walter L, Taguchi, Tomohiko, Shum, Anthony K

“…Pathogenic COPA variants cause a Mendelian syndrome of immune dysregulation with elevated type I interferon signaling. COPA is a subunit of coat protein…”
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Homeostatic regulation of STING by retrograde membrane traffic to the ER by Mukai, Kojiro, Ogawa, Emari, Uematsu, Rei, Kuchitsu, Yoshihiko, Kiku, Fumika, Uemura, Takefumi, Waguri, Satoshi, Suzuki, Takehiro, Dohmae, Naoshi, Arai, Hiroyuki, Shum, Anthony K., Taguchi, Tomohiko

“…Coat protein complex I (COP-I) mediates the retrograde transport from the Golgi apparatus to the endoplasmic reticulum (ER). Mutation of the COPA gene,…”
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Type I interferon pathway activation in COPA syndrome by Volpi, Stefano, Tsui, Jessica, Mariani, Marcello, Pastorino, Claudia, Caorsi, Roberta, Sacco, Oliviero, Ravelli, Angelo, Shum, Anthony K., Gattorno, Marco, Picco, Paolo

“…Mutations of the COPA gene cause an immune dysregulatory disease characterised by polyarticular arthritis and progressive interstitial lung disease with…”
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Protein microarray analysis reveals BAFF-binding autoantibodies in systemic lupus erythematosus by Price, Jordan V, Haddon, David J, Kemmer, Dodge, Delepine, Guillaume, Mandelbaum, Gil, Jarrell, Justin A, Gupta, Rohit, Balboni, Imelda, Chakravarty, Eliza F, Sokolove, Jeremy, Shum, Anthony K, Anderson, Mark S, Cheng, Mickie H, Robinson, William H, Browne, Sarah K, Holland, Steven M, Baechler, Emily C, Utz, Paul J

“…Autoantibodies against cytokines, chemokines, and growth factors inhibit normal immunity and are implicated in inflammatory autoimmune disease and diseases of…”
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Analysis of pulmonary features and treatment approaches in the COPA syndrome by Tsui, Jessica L, Estrada, Oscar A, Deng, Zimu, Wang, Kristin M, Law, Christopher S, Elicker, Brett M, Jones, Kirk D, Dell, Sharon D, Gudmundsson, Gunnar, Hansdottir, Sif, Helfgott, Simon M, Volpi, Stefano, Gattorno, Marco, Waterfield, Michael R, Chan, Alice Y, Chung, Sharon A, Ley, Brett, Shum, Anthony K

“…The COPA syndrome is a monogenic, autoimmune lung and joint disorder first identified in 2015. This study sought to define the main pulmonary features of the…”
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Transglutaminase 4 as a prostate autoantigen in male subfertility by Landegren, Nils, Sharon, Donald, Shum, Anthony K, Khan, Imran S, Fasano, Kayla J, Hallgren, Åsa, Kampf, Caroline, Freyhult, Eva, Ardesjö-Lundgren, Brita, Alimohammadi, Mohammad, Rathsman, Sandra, Ludvigsson, Jonas F, Lundh, Dan, Motrich, Ruben, Rivero, Virginia, Fong, Lawrence, Giwercman, Aleksander, Gustafsson, Jan, Perheentupa, Jaakko, Husebye, Eystein S, Anderson, Mark S, Snyder, Michael, Kämpe, Olle

“…Autoimmune polyendocrine syndrome type 1 (APS1), a monogenic disorder caused by AIRE gene mutations, features multiple autoimmune disease components…”
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Phage Immunoprecipitation‐Sequencing Reveals CDHR5 Autoantibodies in Select Patients With Interstitial Lung Disease by Upadhyay, Vaibhav, Yoon, Young me, Vazquez, Sara E., Velez, Tania E., Jones, Kirk D., Lee, Cathryn T., Law, Christopher S., Wolters, Paul J., Lee, Seoyeon, Yang, Monica M., Farrand, Erica, Noth, Imre, Strek, Mary E., Anderson, Mark S., DeRisi, Joseph L., Sperling, Anne I., Shum, Anthony K.

“…Objective Interstitial lung diseases (ILDs) are a heterogeneous group of disorders that can develop in patients with connective tissue diseases. Establishing…”
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Effector Mechanisms of the Autoimmune Syndrome in the Murine Model of Autoimmune Polyglandular Syndrome Type 1 by DeVoss, Jason J, Shum, Anthony K, Johannes, Kellsey P. A, Lu, Wen, Krawisz, Anna K, Wang, Peter, Yang, Ting, LeClair, Norbert P, Austin, Cecilia, Strauss, Erich C, Anderson, Mark S

“…Mutations in the Aire gene result in a clinical phenomenon known as Autoimmune Polyglandular Syndrome (APS) Type I, which classically manifests as a triad of…”
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Identification of an autoantigen demonstrates a link between interstitial lung disease and a defect in central tolerance by Shum, Anthony K, DeVoss, Jason, Tan, Catherine L, Hou, Yafei, Johannes, Kellsey, O'Gorman, Clodagh S, Jones, Kirk D, Sochett, Etienne B, Fong, Lawrence, Anderson, Mark S

“…Interstitial lung disease (ILD) is a common manifestation of systemic autoimmunity characterized by progressive inflammation or scarring of the lungs. Patients…”
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COPA Syndrome from Diagnosis to Treatment: A Clinician's Guide by Simchoni, Noa, Vogel, Tiphanie P, Shum, Anthony K

“…COPA syndrome is a recently described autosomal dominant inborn error of immunity characterized by high titer autoantibodies and interstitial lung disease,…”
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Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease by Lalaoui, Najoua, Boyden, Steven E., Oda, Hirotsugu, Wood, Geryl M., Stone, Deborah L., Chau, Diep, Liu, Lin, Stoffels, Monique, Kratina, Tobias, Lawlor, Kate E., Zaal, Kristien J. M., Hoffmann, Patrycja M., Etemadi, Nima, Shield-Artin, Kristy, Biben, Christine, Tsai, Wanxia Li, Blake, Mary D., Kuehn, Hye Sun, Yang, Dan, Anderton, Holly, Silke, Natasha, Wachsmuth, Laurens, Zheng, Lixin, Moura, Natalia Sampaio, Beck, David B., Gutierrez-Cruz, Gustavo, Ombrello, Amanda K., Pinto-Patarroyo, Gineth P., Kueh, Andrew J., Herold, Marco J., Hall, Cathrine, Wang, Hongying, Chae, Jae Jin, Dmitrieva, Natalia I., McKenzie, Mark, Light, Amanda, Barham, Beverly K., Jones, Anne, Romeo, Tina M., Zhou, Qing, Aksentijevich, Ivona, Mullikin, James C., Gross, Andrew J., Shum, Anthony K., Hawkins, Edwin D., Masters, Seth L., Lenardo, Michael J., Boehm, Manfred, Rosenzweig, Sergio D., Pasparakis, Manolis, Voss, Anne K., Gadina, Massimo, Kastner, Daniel L., Silke, John

“…RIPK1 is a key regulator of innate immune signalling pathways. To ensure an optimal inflammatory response, RIPK1 is regulated post-translationally by…”
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A Defect in Thymic Tolerance Causes T Cell-Mediated Autoimmunity in a Murine Model of COPA Syndrome by Deng, Zimu, Law, Christopher S, Ho, Frances O, Wang, Kristin M, Jones, Kirk D, Shin, Jeoung-Sook, Shum, Anthony K

“…COPA syndrome is a recently described Mendelian autoimmune disorder caused by missense mutations in the ( ) gene. Patients with COPA syndrome develop arthritis…”
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T cell types that take your breath away by Shum, Anthony K

“…A new T helper cell signature in asthma patients highlights the potential impact of a personalized approach to asthma care (Choy et al., this issue)…”
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis by Watkin, Levi B, Jessen, Birthe, Wiszniewski, Wojciech, Vece, Timothy J, Jan, Max, Sha, Youbao, Thamsen, Maike, Santos-Cortez, Regie L P, Lee, Kwanghyuk, Gambin, Tomasz, Forbes, Lisa R, Law, Christopher S, Stray-Pedersen, Asbjørg, Cheng, Mickie H, Mace, Emily M, Anderson, Mark S, Liu, Dongfang, Tang, Ling Fung, Nicholas, Sarah K, Nahmod, Karen, Makedonas, George, Canter, Debra L, Kwok, Pui-Yan, Hicks, John, Jones, Kirk D, Penney, Samantha, Jhangiani, Shalini N, Rosenblum, Michael D, Dell, Sharon D, Waterfield, Michael R, Papa, Feroz R, Muzny, Donna M, Zaitlen, Noah, Leal, Suzanne M, Gonzaga-Jauregui, Claudia, Boerwinkle, Eric, Eissa, N Tony, Gibbs, Richard A, Lupski, James R, Orange, Jordan S, Shum, Anthony K

“…Anthony Shum, Jordan Orange, James Lupski and colleagues show that mutations in the coatamer subunit gene COPA cause an autoimmune syndrome characterized by…”
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Rare variants, autoimmune disease, and arthritis by Chung, Sharon A, Shum, Anthony K

“…PURPOSE OF REVIEWWe review select studies of newly discovered rare variants in autoimmune diseases with a focus on newly described monogenic disorders,…”
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A 36-year-old man with AIDS and relapsing, nonproductive cough by Davis, J Lucian, Shum, Anthony K, Huang, Laurence

“…A rapidly progressive, fatal recrudescence of pulmonary Kaposi sarcoma developed in an HIV-infected man who was receiving corticosteroids for treatment of an…”
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Prevalence and clinical significance of circulating autoantibodies in idiopathic pulmonary fibrosis by Lee, Joyce S, Kim, Eunice J, Lynch, Kara L, Elicker, Brett, Ryerson, Christopher J, Katsumoto, Tamiko R, Shum, Anthony K, Wolters, Paul J, Cerri, Stefania, Richeldi, Luca, Jones, Kirk D, King, Talmadge E, Collard, Harold R

“…Summary Background The clinical significance of circulating autoantibodies in idiopathic pulmonary fibrosis is unclear. The objective of this study was to…”
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Survival in interstitial pneumonia with features of autoimmune disease: A comparison of proposed criteria by Assayag, Deborah, Kim, Eunice J, Elicker, Brett M, Jones, Kirk D, Golden, Jeffrey A, King, Talmadge E, Koth, Laura L, Shum, Anthony K, Wolters, Paul J, Collard, Harold R, Lee, Joyce S

“…Abstract Background Some patients with chronic fibrosing interstitial pneumonia (IP) have clinical, serological, and morphological features suggestive of, but…”
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BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease by Shum, Anthony K, Alimohammadi, Mohammad, Tan, Catherine L, Cheng, Mickie H, Metzger, Todd C, Law, Christopher S, Lwin, Wint, Perheentupa, Jaakko, Bour-Jordan, Helene, Carel, Jean Claude, Husebye, Eystein S, De Luca, Filippo, Janson, Christer, Sargur, Ravishankar, Dubois, Noémie, Kajosaari, Merja, Wolters, Paul J, Chapman, Harold A, Kämpe, Olle, Anderson, Mark S

“…Interstitial lung disease (ILD) is a complex and heterogeneous disorder that is often associated with autoimmune syndromes. Despite the connection between ILD…”
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Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy by Su, Maureen A, Davini, Dan, Cheng, Philip, Giang, Karen, Fan, Una, DeVoss, Jason J, Johannes, Kellsey P A, Taylor, Lorelei, Shum, Anthony K, Valenzise, Mariella, Meloni, Antonella, Bour-Jordan, Helene, Anderson, Mark S

“…Chronic inflammatory demyelinating polyneuropathy is a debilitating autoimmune disease characterized by peripheral nerve demyelination and dysfunction. How the…”
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