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

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

por Nunes-Santos, Cristiane J., Kuehn, HyeSun, Boast, Brigette, Hwang, SuJin, Kuhns, Douglas B., Stoddard, Jennifer, Niemela, Julie E., Fink, Danielle L., Pittaluga, Stefania, Abu-Asab, Mones, Davies, John S., Barr, Valarie A., Kawai, Tomoki, Delmonte, Ottavia M., Bosticardo, Marita, Garofalo, Mary, Carneiro-Sampaio, Magda, Somech, Raz, Gharagozlou, Mohammad, Parvaneh, Nima, Samelson, Lawrence E., Fleisher, Thomas A., Puel, Anne, Notarangelo, Luigi D., Boisson, Bertrand, Casanova, Jean-Laurent, Derfalvi, Beata, Rosenzweig, Sergio D.
Publicado 2023

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