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Implications of combined NOD2 and other gene mutations in autoinflammatory diseases
Nomani, Hafsa, Deng, Zuoming, Navetta-Modrov, Brianne, Yang, Jie, Yun, Mark, Aroniadis, Olga, Gorevic, Peter, Aksentijevich, Ivona, Yao, Qingping
Published in Frontiers in immunology (19.10.2023)
Published in Frontiers in immunology (19.10.2023)
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Journal Article
Somatic activating mutations in MAP2K1 cause melorheostosis
Kang, Heeseog, Jha, Smita, Deng, Zuoming, Fratzl-Zelman, Nadja, Cabral, Wayne A., Ivovic, Aleksandra, Meylan, Françoise, Hanson, Eric P., Lange, Eileen, Katz, James, Roschger, Paul, Klaushofer, Klaus, Cowen, Edward W., Siegel, Richard M., Marini, Joan C., Bhattacharyya, Timothy
Published in Nature communications (11.04.2018)
Published in Nature communications (11.04.2018)
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Journal Article
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype
Lee, Younglang, Wessel, Alex W., Xu, Jiazhi, Reinke, Julia G., Lee, Eries, Kim, Somin M., Hsu, Amy P., Zilberman-Rudenko, Jevgenia, Cao, Sha, Enos, Clinton, Brooks, Stephen R., Deng, Zuoming, Lin, Bin, de Jesus, Adriana A., Hupalo, Daniel N., Piotto, Daniela G.P., Terreri, Maria T., Dimitriades, Victoria R., Dalgard, Clifton L., Holland, Steven M., Goldbach-Mansky, Raphaela, Siegel, Richard M., Hanson, Eric P.
Published in The Journal of clinical investigation (15.03.2022)
Published in The Journal of clinical investigation (15.03.2022)
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Journal Article
Inactivating Mutation in IRF8 Promotes Osteoclast Transcriptional Programs and Increases Susceptibility to Tooth Root Resorption
Thumbigere‐Math, Vivek, Foster, Brian L, Bachu, Mahesh, Yoshii, Hiroaki, Brooks, Stephen R., Coulter, Alyssa, Chavez, Michael B, Togi, Sumihito, Neely, Anthony L, Deng, Zuoming, Mansky, Kim C, Ozato, Keiko, Somerman, Martha J
Published in Journal of bone and mineral research (01.06.2019)
Published in Journal of bone and mineral research (01.06.2019)
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Journal Article
Anakinra for refractory pustular psoriasis: A phase II, open-label, dose-escalation trial
Naik, Haley B., Pichard, Dominique C., Schwartz, Daniella M., O'Brien, Michelle, Masciocchi, Matthew, Thompson, Julie, Sen, H. Nida, Steinberg, Seth M., Mitchell, Sandra A., de Jesus, Adriana A., McCalmont, Timothy H., Dey, Amit, Rosenstein, Rachel K., Deng, Zuoming, Goldbach-Mansky, Raphaela, Mehta, Nehal N., Cowen, Edward W.
Published in Journal of the American Academy of Dermatology (01.12.2022)
Published in Journal of the American Academy of Dermatology (01.12.2022)
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Journal Article
Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study
Yun, Mark, Deng, Zuoming, Navetta-Modrov, Brianne, Xin, Baozhong, Yang, Jie, Nomani, Hafsa, Aroniadis, Olga, Gorevic, Peter D., Yao, Qingping
Published in Frontiers in immunology (2023)
Published in Frontiers in immunology (2023)
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Journal Article
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4
de Jesus, Adriana A., Brehm, Anja, VanTries, Rachel, Pillet, Pascal, Parentelli, Anne-Sophie, Montealegre Sanchez, Gina A., Deng, Zuoming, Paut, Isabelle Koné, Goldbach-Mansky, Raphaela, Krüger, Elke
Published in Journal of allergy and clinical immunology (01.05.2019)
Published in Journal of allergy and clinical immunology (01.05.2019)
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Journal Article
Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus
Lewandowski, Laura, Hiraki, Linda, Scott, Christiaan, Barrera-Vargas, Ana, Romo Tena, Jorge, Gómez-Martín, Diana, Ombrello, Michael J, Aksentijevich, Ivona, Deng, Zuoming, Musolf, Anthony M, Paul, Subrata, Lu, Shajia, Gadina, Massimo, Hupalo, Daniel, Dalgard, Clifton L, Hasni, Sarfaraz, Silverman, Earl D, Kaplan, Mariana J
Published in Lupus science & medicine (10.06.2025)
Published in Lupus science & medicine (10.06.2025)
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Journal Article
Risk of relapse of ANCA-associated vasculitis among patients homozygous for the proteinase 3 gene Val119Ile polymorphism
Casal Moura, Marta, Deng, Zuoming, Brooks, Stephen R, Tew, Wei, Fervenza, Fernando C, Kallenberg, Cees G M, Langford, Carol A, Merkel, Peter A, Monach, Paul A, Seo, Philip, Spiera, Robert F, St Clair, E William, Stone, John H, Prunotto, Marco, Grayson, Peter C, Specks, Ulrich
Published in Rheumatic & musculoskeletal diseases open (01.03.2023)
Published in Rheumatic & musculoskeletal diseases open (01.03.2023)
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Journal Article
Familial Mediterranean Fever at the Millennium Clinical Spectrum, Ancient Mutations, and a Survey of 100 American Referrals to the National Institutes of Health
Samuels, Jonathan, Aksentijevich, Ivona, Torosyan, Yelizaveta, Centola, Michael, Deng, Zuoming, Sood, Raman, Kastner, Daniel L.
Published in Medicine (Baltimore) (01.07.1998)
Published in Medicine (Baltimore) (01.07.1998)
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Journal Article
comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33
Parikh, Hemang, Deng, Zuoming, Yeager, Meredith, Boland, Joseph, Matthews, Casey, Jia, Jinping, Collins, Irene, White, Ariel, Burdett, Laura, Hutchinson, Amy, Qi, Liqun, Bacior, Jennifer A, Lonsberry, Victor, Rodesch, Matthew J, Jeddeloh, Jeffrey A, Albert, Thomas J, Halvensleben, Heather A, Harkins, Timothy T, Ahn, Jiyoung, Berndt, Sonja I, Chatterjee, Nilanjan, Hoover, Robert, Thomas, Gilles, Hunter, David J, Hayes, Richard B, Chanock, Stephen J, Amundadottir, Laufey
Published in Human genetics (01.01.2010)
Published in Human genetics (01.01.2010)
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Journal Article
Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer
Yeager, Meredith, Deng, Zuoming, Boland, Joseph, Matthews, Casey, Bacior, Jennifer, Lonsberry, Victor, Hutchinson, Amy, Burdett, Laura A., Qi, Liqun, Jacobs, Kevin B., Gonzalez-Bosquet, Jesus, Berndt, Sonja I., Hayes, Richard B., Hoover, Robert N., Thomas, Gilles, Hunter, David J., Dean, Michael, Chanock, Stephen J.
Published in Human genetics (01.12.2009)
Published in Human genetics (01.12.2009)
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Journal Article
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
Beck, David B, Ferrada, Marcela A, Sikora, Keith A, Ombrello, Amanda K, Collins, Jason C, Pei, Wuhong, Balanda, Nicholas, Ross, Daron L, Ospina Cardona, Daniela, Wu, Zhijie, Patel, Bhavisha, Manthiram, Kalpana, Groarke, Emma M, Gutierrez-Rodrigues, Fernanda, Hoffmann, Patrycja, Rosenzweig, Sofia, Nakabo, Shuichiro, Dillon, Laura W, Hourigan, Christopher S, Tsai, Wanxia L, Gupta, Sarthak, Carmona-Rivera, Carmelo, Asmar, Anthony J, Xu, Lisha, Oda, Hirotsugu, Goodspeed, Wendy, Barron, Karyl S, Nehrebecky, Michele, Jones, Anne, Laird, Ryan S, Deuitch, Natalie, Rowczenio, Dorota, Rominger, Emily, Wells, Kristina V, Lee, Chyi-Chia R, Wang, Weixin, Trick, Megan, Mullikin, James, Wigerblad, Gustaf, Brooks, Stephen, Dell’Orso, Stefania, Deng, Zuoming, Chae, Jae J, Dulau-Florea, Alina, Malicdan, May C.V, Novacic, Danica, Colbert, Robert A, Kaplan, Mariana J, Gadina, Massimo, Savic, Sinisa, Lachmann, Helen J, Abu-Asab, Mones, Solomon, Benjamin D, Retterer, Kyle, Gahl, William A, Burgess, Shawn M, Aksentijevich, Ivona, Young, Neal S, Calvo, Katherine R, Werner, Achim, Kastner, Daniel L, Grayson, Peter C
Published in The New England journal of medicine (31.12.2020)
Published in The New England journal of medicine (31.12.2020)
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Journal Article
A novel mutation in IRAK2 results in immune dysregulation in systemic juvenile idiopathic arthritis (sJIA)
Boyd, Brooke, Platukus, Alana, Schmitz, Elizabeth, Nakano, Hiroto, Dell'Orso, Stefania, Naz, Faiza, Deng, Zuoming, Cruz, Anthony, Ombrello, Michael
Published in The Journal of immunology (1950) (01.05.2024)
Published in The Journal of immunology (1950) (01.05.2024)
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Journal Article
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS
Ferrada, Marcela A., Sikora, Keith A., Luo, Yiming, Wells, Kristina V., Patel, Bhavisha, Groarke, Emma M., Ospina Cardona, Daniela, Rominger, Emily, Hoffmann, Patrycja, Le, Mimi T., Deng, Zuoming, Quinn, Kaitlin A., Rose, Emily, Tsai, Wanxia L., Wigerblad, Gustaf, Goodspeed, Wendy, Jones, Anne, Wilson, Lorena, Schnappauf, Oskar, Laird, Ryan S., Kim, Jeff, Allen, Clint, Sirajuddin, Arlene, Chen, Marcus, Gadina, Massimo, Calvo, Katherine R., Kaplan, Mariana J., Colbert, Robert A., Aksentijevich, Ivona, Young, Neal S., Savic, Sinisa, Kastner, Daniel L., Ombrello, Amanda K., Beck, David B., Grayson, Peter C.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.10.2021)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.10.2021)
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Journal Article
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Canna, Scott W, de Jesus, Adriana A, Gouni, Sushanth, Brooks, Stephen R, Marrero, Bernadette, Liu, Yin, DiMattia, Michael A, Zaal, Kristien J M, Sanchez, Gina A Montealegre, Kim, Hanna, Chapelle, Dawn, Plass, Nicole, Huang, Yan, Villarino, Alejandro V, Biancotto, Angelique, Fleisher, Thomas A, Duncan, Joseph A, O'Shea, John J, Benseler, Susanne, Grom, Alexei, Deng, Zuoming, Laxer, Ronald M, Goldbach-Mansky, Raphaela
Published in Nature genetics (01.10.2014)
Published in Nature genetics (01.10.2014)
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Journal Article
Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study
Luo, Yiming, Ferrada, Marcela A, Sikora, Keith A, Rankin, Cameron, Alessi, Hugh D, Kastner, Daniel L, Deng, Zuoming, Zhang, Mengqi, Merkel, Peter A, Kraus, Virginia B, Allen, Andrew S, Grayson, Peter C
Published in Annals of the rheumatic diseases (01.02.2024)
Published in Annals of the rheumatic diseases (01.02.2024)
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Journal Article
Somatic SMAD3 -activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway
Kang, Heeseog, Jha, Smita, Ivovic, Aleksandra, Fratzl-Zelman, Nadja, Deng, Zuoming, Mitra, Apratim, Cabral, Wayne A., Hanson, Eric P., Lange, Eileen, Cowen, Edward W., Katz, James, Roschger, Paul, Klaushofer, Klaus, Dale, Ryan K., Siegel, Richard M., Bhattacharyya, Timothy, Marini, Joan C.
Published in The Journal of experimental medicine (04.05.2020)
Published in The Journal of experimental medicine (04.05.2020)
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Journal Article
Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus
Vazzana, Kathleen M., Musolf, Anthony M., Bailey-Wilson, Joan E., Hiraki, Linda T., Silverman, Earl D., Scott, Christiaan, Dalgard, Clifton L., Hasni, Sarfaraz, Deng, Zuoming, Kaplan, Mariana J., Lewandowski, Laura B.
Published in Genes and immunity (01.08.2023)
Published in Genes and immunity (01.08.2023)
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Journal Article
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations
Jha, Smita, Fratzl‐Zelman, Nadja, Roschger, Paul, Papadakis, Georgios Z, Cowen, Edward W, Kang, Heeseog, Lehky, Tanya J, Alter, Katharine, Deng, Zuoming, Ivovic, Aleksandra, Flynn, Lauren, Reynolds, James C, Dasgupta, Abhijit, Miettinen, Markku, Lange, Eileen, Katz, James, Klaushofer, Klaus, Marini, Joan C, Siegel, Richard M, Bhattacharyya, Timothy
Published in Journal of bone and mineral research (01.01.2019)
Published in Journal of bone and mineral research (01.01.2019)
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Journal Article