Patricia L. M. Dahia

This study identifies TMEM127 as a critical regulator of the MHC-I degradation complex by modulating WWP2 activity, offering a target for enhancing antigen presentation in cancer immunology.

This study uses patient-derived organoids to model pheochromocytomas and paragangliomas, revealing hypoxia-driven plasticity and therapeutic vulnerabilities, including responses to abemaciclib.

This study links EPAS1HIF2 genetic adaptations in high-altitude populations to similar mutations in hypoxia-driven tumors, showing shared mechanisms in hypoxia response and tumorigenesis.

This study shows that IRF8 mutations in DLBCL lymphomas impair antigen processing and presentation by reducing CD74 and HLA-DM, leading to immune evasion and increased tumor burden.

The paper functionally characterizes germline TMEM127 variants, identifying pathogenic mutations and revealing a fourth transmembrane domain and an endocytic motif.