GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

The general transcription factor IIE (TFIIE) is essential for transcription initiation by RNA polymerase II (RNA pol II) via direct interaction with the basal transcription/DNA repair factor IIH (TFIIH). TFIIH harbors mutations in two rare genetic disorders, the cancer-prone xeroderma pigmentosum (X...

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Publicat a:Am J Hum Genet
Autors principals: Kuschal, Christiane, Botta, Elena, Orioli, Donata, Digiovanna, John J., Seneca, Sara, Keymolen, Kathelijn, Tamura, Deborah, Heller, Elizabeth, Khan, Sikandar G., Caligiuri, Giuseppina, Lanzafame, Manuela, Nardo, Tiziana, Ricotti, Roberta, Peverali, Fiorenzo A., Stephens, Robert, Zhao, Yongmei, Lehmann, Alan R., Baranello, Laura, Levens, David, Kraemer, Kenneth H., Stefanini, Miria
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833217/
https://ncbi.nlm.nih.gov/pubmed/26996949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.02.008
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