High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep39652
Abstract: Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified.… read more here.
Keywords: mutations affecting; retinitis pigmentosa; splicing process; autosomal dominant ... See more keywords
Mutations Affecting Splicing and Epigenetics Promote Leukemogenesis.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer discovery"
DOI: 10.1158/2159-8290.cd-rw2019-156
Abstract: IDH2 mutations, causing DNA hypermethylation, cooperate with splicing-factor mutations in leukemia. read more here.
Keywords: affecting splicing; splicing epigenetics; promote leukemogenesis; epigenetics promote ... See more keywords