ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing
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DOI: 10.1093/nar/gkx163
Abstract: Abstract Hypomorphic mutations in DNA-methyltransferase DNMT3B cause majority of the rare disorder Immunodeficiency, Centromere instability and Facial anomalies syndrome cases (ICF1). By unspecified mechanisms, mutant-DNMT3B interferes with lymphoid-specific pathways resulting in immune response defects. Interestingly,… read more here.
Keywords: transcription; dnmt3b; dnmt3b dysfunction; alternative splicing ... See more keywords