Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2020.04.011
Abstract: Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles (RVs)… read more here.
Keywords: expansion; gipc1; repeat; ggc repeat ... See more keywords
PO-142 RNAi-mediated therapeutic knockdown of the neuropilin axis and GIPC1 in pancreatic carcinoma
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DOI: 10.1136/esmoopen-2018-eacr25.183
Abstract: Introduction Pancreatic ductal adenocarcinoma (PDAC) is associated with a 5 year survival rate of less than 4%, indicating the often poor success rate of chemotherapy and the need for novel treatment strategies based on targeted therapies.… read more here.
Keywords: knockdown; gipc1; neuropilin axis; inhibition ... See more keywords