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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

In eukaryotes, the elongation phase of transcription by RNA polymerase II (RNAP II) is regulated by the transcription elongation factor b (P-TEFb), composed of Cyclin-T1 and cyclin-dependent kinase 9. The release of RNAP II is mediated by phosphorylation through P-TEFb that in turn is under control...

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Detalles Bibliográficos
Autores principales: Schneeberger, Pauline E., Bierhals, Tatjana, Neu, Axel, Hempel, Maja, Kutsche, Kerstin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715695/
https://www.ncbi.nlm.nih.gov/pubmed/31467394
http://dx.doi.org/10.1038/s41598-019-49032-0