An ACVR1 activating mutation causes neuropathic pain and sensory neuron hyperexcitability in humans.
Sign Up to like & getrecommendations! Published in 2022 at "Pain"
DOI: 10.1097/j.pain.0000000000002656
Abstract: ABSTRACT Altered bone morphogenetic protein (BMP) signaling is associated with many musculoskeletal diseases. However, it remains unknown whether BMP dysfunction has direct contribution to debilitating pain reported in many of these disorders. Here we identified… read more here.
Keywords: pain; activating mutation; neuropathic pain; hyperexcitability ... See more keywords
Cerebellar Metastasis From Ovarian Carcinoma Harboring PIK3CA-Activating Mutation: A "Clear" Explanation for an Unexpected "Vertigo".
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Gynecological Pathology"
DOI: 10.1097/pgp.0000000000000550
Abstract: Brain metastasis is a rare and generally late manifestation of an advanced-stage, high-grade serous ovarian carcinoma. Nowadays, the improved control of intra-abdominal disease by surgery and platinum-based chemotherapy results in a longer survival, allowing distant… read more here.
Keywords: activating mutation; metastasis; cerebellar metastasis; ovarian carcinoma ... See more keywords
Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.20700
Abstract: Cardiac sarcoma is a rare malignant tumor with undefined genetic mutations and no targeted therapy. Here in one rare case of undifferentiated cardiac intimal sarcoma (IS), a next-generation sequencing based assay, MSK-IMPACT (Memorial Sloan Kettering… read more here.
Keywords: mutation pdgfrb; activating mutation; intimal sarcoma; case ... See more keywords