Ontology highlight
ABSTRACT:
SUBMITTER: Lu J
PROVIDER: S-EPMC4966300 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Lu JingWei J Plank Terra-Dawn TD Su Fang F Shi XiuJuan X Liu Chen C Ji Yuan Y Li ShuaiJun S Huynh Andrew A Shi Chao C Zhu Bo B Yang Guang G Wu YanMing Y Wilkinson Miles F MF Lu YanJun Y
The Journal of clinical investigation 20160627 8
Inflammatory myofibroblastic tumors (IMTs) are characterized by myofibroblast proliferation and an inflammatory cell infiltrate. Little is known about the molecular pathways that precipitate IMT formation. Here, we report the identification of somatic mutations in UPF1, a gene that encodes an essential component of the nonsense-mediated RNA decay (NMD) pathway, in 13 of 15 pulmonary IMT samples. The majority of mutations occurred in a specific region of UPF1 and triggered UPF1 alternative splici ...[more]