Ikaros-Associated Diseases: From Mice to Humans and Back Again

por Boast, Brigette, Nunes-Santos, Cristiane de Jesus, Kuehn, Hye Sun, Rosenzweig, Sergio D.
Publicado 2021

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

por Kuehn, Hye Sun, Chang, Jingjie, Yamashita, Motoi, Niemela, Julie E., Zou, Chengcheng, Okuyama, Kazuki, Harada, Junji, Stoddard, Jennifer L., Nunes-Santos, Cristiane J., Boast, Brigette, Baxter, Ryan M., Hsieh, Elena W.Y., Garofalo, Mary, Fleisher, Thomas A., Morio, Tomohiro, Taniuchi, Ichiro, Dutmer, Cullen M., Rosenzweig, Sergio D.
Publicado 2021

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