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

Por 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
Publicado em 2011

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

Por 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.
Publicado em 2010

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

Por 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.
Publicado em 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

Por 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.
Publicado em 2007

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

Por 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
Publicado em 2013