Implications of combined NOD2 and other gene mutations in autoinflammatory diseases

por Nomani, Hafsa, Deng, Zuoming, Navetta-Modrov, Brianne, Yang, Jie, Yun, Mark, Aroniadis, Olga, Gorevic, Peter, Aksentijevich, Ivona, Yao, Qingping
Publicado 2023

Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study

por Luo, Yiming, Ferrada, Marcela A., Sikora, Keith A., Rankin, Cameron, Alessi, Hugh, Kastner, Daniel L., Deng, Zuoming, Zhang, Mengqi, Merkel, Peter A., Kraus, Virginia B., Allen, Andrew S., Grayson, Peter C.
Publicado 2023

Somatic activating mutations in MAP2K1 cause melorheostosis

por 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
Publicado 2018

A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype

por De Jesus, Adriana Almeida, Montealegre, Gina, Liu, Yin, Marrero, Bernadette, Kuehn, Hyesun, Calvo, Katherine, Rosenzweig, Sergio, Fleisher, Thomas, Lee, Richard Chyi-Chia, Brundidge, April, Chapelle, Dawn, Huang, Yan, Brooks, Stephen, Moir, Susan, Meffre, Eric, Merchant, Melinda, Deng, Zuoming, Goldbach-Mansky, Raphaela
Publicado 2014

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway

por 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.
Publicado 2020

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

por 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
Publicado 2023

Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer

por 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.
Publicado 2009

Complete Genomic Characterization of a Pathogenic A.II Strain of Francisella tularensis Subspecies tularensis

por Beckstrom-Sternberg, Stephen M., Auerbach, Raymond K., Godbole, Shubhada, Pearson, John V., Beckstrom-Sternberg, James S., Deng, Zuoming, Munk, Christine, Kubota, Kristy, Zhou, Yan, Bruce, David, Noronha, Jyothi, Scheuermann, Richard H., Wang, Aihui, Wei, Xianying, Wang, Jianjun, Hao, Jicheng, Wagner, David M., Brettin, Thomas S., Brown, Nancy, Gilna, Paul, Keim, Paul S.
Publicado 2007

A comprehensive resequence analysis of the KLK15–KLK3–KLK2 locus on chromosome 19q13.33

por 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
Publicado 2009

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

por Canna, Scott W., de Jesus, Adriana Almeida, Gouni, Sushanth, Brooks, Stephen R., Marrero, Bernadette, Liu, Yin, DiMattia, Michael A., Zaal, Kristien J.M., Montealegre Sanchez, Gina A., 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
Publicado 2014

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

por 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.
Publicado 2022

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

por de Jesus, Adriana A., Chen, Guibin, Yang, Dan, Brdicka, Tomas, Ruth, Natasha M., Bennin, David, Cebecauerova, Dita, Malcova, Hana, Freeman, Helen, Martin, Neil, Svojgr, Karel, Passo, Murray H., Bhuyan, Farzana, Alehashemi, Sara, Rastegar, Andre T., Uss, Katsiaryna, Kardava, Lela, Marrero, Bernadette, Duric, Iris, Omoyinmi, Ebun, Peldova, Petra, Lee, Chyi-Chia Richard, Kleiner, David E., Hadigan, Colleen M., Hewitt, Stephen M., Pittaluga, Stefania, Carmona-Rivera, Carmelo, Calvo, Katherine R., Shah, Nirali, Balascakova, Miroslava, Fink, Danielle L., Kotalova, Radana, Parackova, Zuzana, Peterkova, Lucie, Kuzilkova, Daniela, Campr, Vit, Sramkova, Lucie, Biancotto, Angelique, Brooks, Stephen R., Manes, Cameron, Meffre, Eric, Harper, Rebecca L., Kuehn, Hyesun, Kaplan, Mariana J., Brogan, Paul, Rosenzweig, Sergio D., Merchant, Melinda, Deng, Zuoming, Huttenlocher, Anna, Moir, Susan L., Kuhns, Douglas B., Boehm, Manfred, Skvarova Kramarzova, Karolina, Goldbach-Mansky, Raphaela
Publicado 2023