Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

par Deuquet, Julie, Lausch, Ekkehart, Guex, Nicolas, Abrami, Laurence, Salvi, Suzanne, Lakkaraju, Asvin, Ramirez, Maria Celeste M, Martignetti, John A, Rokicki, Dariusz, Bonafe, Luisa, Superti-Furga, Andrea, van der Goot, Françoise G
Publié 2011

Loss of Matrix Metalloproteinase-2 Amplifies Murine Toxin-Induced Liver Fibrosis by Upregulating Collagen I Expression

par Radbill, Brian D., Gupta, Ritu, Ramirez, Maria Celeste M., DiFeo, Analisa, Martignetti, John A., Alvarez, Carlos E., Friedman, Scott L., Narla, Goutham, Vrabie, Raluca, Bowles, Robert, Saiman, Yedidya, Bansal, Meena B.
Publié 2010

Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP Transcripts

par Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Till, Jacob, Miranda-Lorenzo, Irene, Terzo, Esteban, Ramirez, Maria Celeste, Schramm, Vern, Cordovano, Grace, Watts, Giles, Mehta, Sarju, Kimonis, Virginia, Hoch, Benjamin, Philibert, Keith D., Raabe, Carsten A., Bishop, David F., Glucksman, Marc J., Martignetti, John A.
Publié 2012

Loss of MMP-2 disrupts skeletal and craniofacial development, and results in decreased bone mineralization, joint erosion, and defects in osteoblast and osteoclast growth

par Mosig, Rebecca A., Dowling, Oonagh, DiFeo, Analisa, Ramirez, Maria Celeste M., Parker, Ian C., Abe, Etsuko, Diouri, Janane, Aqeel, Aida Al, Wylie, James D., Oblander, Samantha A., Madri, Joseph, Bianco, Paolo, Apte, Suneel S., Zaidi, Mone, Doty, Stephen B., Majeska, Robert J., Schaffler, Mitchell B., Martignetti, John A.
Publié 2007

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

par Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon
Publié 2013