A knockin mouse model for human ATP4a(R703C) mutation identified in familial gastric neuroendocrine tumors recapitulates the premalignant condition of the human disease and suggest...

Por Calvete, Oriol, Varro, Andrea, Pritchard, D. Mark, Barroso, Alicia, Oteo, Marta, Morcillo, Miguel Ángel, Vargiu, Pierfrancesco, Dodd, Steven, Garcia, Miriam, Reyes, José, Ortega, Sagrario, Benitez, Javier
Publicado no Dis Model Mech (2016)

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes

Por Gayarre, Javier, Martín-Gimeno, Paloma, Osorio, Ana, Paumard, Beatriz, Barroso, Alicia, Fernández, Victoria, de la Hoya, Miguel, Rojo, Alejandro, Caldés, Trinidad, Palacios, José, Urioste, Miguel, Benítez, Javier, García, María J
Publicado no Br J Cancer (2017)

Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effec...

Por Vaclová, Tereza, Woods, Nicholas T., Megías, Diego, Gomez-Lopez, Sergio, Setién, Fernando, García Bueno, José María, Macías, José Antonio, Barroso, Alicia, Urioste, Miguel, Esteller, Manel, Monteiro, Alvaro N.A., Benítez, Javier, Osorio, Ana
Publicado no Hum Mol Genet (2016)