BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

RNA polymerase III (Pol III) synthesizes tRNAs and other small noncoding RNAs to regulate protein synthesis. Dysregulation of Pol III transcription has been linked to cancer, and germline mutations in genes encoding Pol III subunits or tRNA processing factors cause neurogenetic disorders in humans,...

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Bibliografski detalji
Izdano u:Genome Res
Glavni autori: Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmüller, Janine, Reymond, Alexandre, Nürnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2015
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4315290/
https://ncbi.nlm.nih.gov/pubmed/25561519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.176925.114
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