ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing

Autor: Gatto, Sole, Gagliardi, Miriam, Franzese, Monica, Leppert, Sylwia, Papa, Mariarosaria, Cammisa, Marco, Grillo, Giacomo, Velasco, Guillame, Francastel, Claire, Toubiana, Shir, D’Esposito, Maurizio, Angelini, Claudia, Matarazzo, Maria R.

Publikováno v: Nucleic acids research (Online) 45 (2017): 5739–5756. doi:10.1093/nar/gkx163
info:cnr-pdr/source/autori:Gatto, Sole; Gagliardi, Miriam; Franzese, Monica; Leppert, Sylwia; Papa, Mariarosaria; Cammisa, Marco; Grillo, Giacomo; Velasco, Guillame; Francastel, Claire; Toubiana, Shir; D'Esposito, Maurizio; Angelini, Claudia; Matarazzo, Maria R/titolo:ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing./doi:10.1093%2Fnar%2Fgkx163/rivista:Nucleic acids research (Online)/anno:2017/pagina_da:5739/pagina_a:5756/intervallo_pagine:5739–5756/volume:45
Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 2017, 45 (10), pp.5739-5756. ⟨10.1093/nar/gkx163⟩

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

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https://publications.cnr.it/doc/372091