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 em 2014

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Por Brehm, Anja, Liu, Yin, Sheikh, Afzal, Marrero, Bernadette, Omoyinmi, Ebun, Zhou, Qing, Montealegre, Gina, Biancotto, Angelique, Reinhardt, Adam, Almeida de Jesus, Adriana, Pelletier, Martin, Tsai, Wanxia L., Remmers, Elaine F., Kardava, Lela, Hill, Suvimol, Kim, Hanna, Lachmann, Helen J., Megarbane, Andre, Chae, Jae Jin, Brady, Jilian, Castillo, Rhina D., Brown, Diane, Casano, Angel Vera, Gao, Ling, Chapelle, Dawn, Huang, Yan, Stone, Deborah, Chen, Yongqing, Sotzny, Franziska, Lee, Chyi-Chia Richard, Kastner, Daniel L., Torrelo, Antonio, Zlotogorski, Abraham, Moir, Susan, Gadina, Massimo, McCoy, Phil, Wesley, Robert, Rother, Kristina, Hildebrand, Peter W., Brogan, Paul, Krüger, Elke, Aksentijevich, Ivona, Goldbach-Mansky, Raphaela
Publicado no J Clin Invest (2015)

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Por Brehm, Anja, Liu, Yin, Sheikh, Afzal, Marrero, Bernadette, Omoyinmi, Ebun, Zhou, Qing, Montealegre, Gina, Biancotto, Angelique, Reinhardt, Adam, de Jesus, Adriana Almeida, Pelletier, Martin, Tsai, Wanxia L., Remmers, Elaine F., Kardava, Lela, Hill, Suvimol, Kim, Hanna, Lachmann, Helen J., Megarbane, Andre, Chae, Jae Jin, Brady, Jilian, Castillo, Rhina D., Brown, Diane, Casano, Angel Vera, Gao, Ling, Chapelle, Dawn, Huang, Yan, Stone, Deborah, Chen, Yongqing, Sotzny, Franziska, Lee, Chyi-Chia Richard, Kastner, Daniel L., Torrelo, Antonio, Zlotogorski, Abraham, Moir, Susan, Gadina, Massimo, McCoy, Phil, Wesley, Robert, Rother, Kristina I., Hildebrand, Peter W., Brogan, Paul, Krüger, Elke, Aksentijevich, Ivona, Goldbach-Mansky, Raphaela
Publicado no J Clin Invest (2016)