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XAB2 is a multi-functional protein participating processes including transcription, splicing, DNA repair and mRNA export. Here we report POLR2A as a major target gene down-regulated after XAB2 depletion. XAB2 depletion led to severe splicing defects of POLR2A with significant intron retention. Such ...
ORGANISM(S): Homo sapiens (Human) 
2019-11-13 | PXD012552 | Pride
Role of POLR2A in kidney response to DNA damage
  ABSTRACT POLR2A encodes RPB1, the largest subunit of the RNA polymerase II (pol II) complex, which is responsible for transcription of all ~21,000 protein-encoding genes. Here we describe the first fifteen patients harboring de novo heterozygous variants in POLR2A. The majority presents with profo...
ORGANISM(S): Homo sapiens (Human) 
2019-09-02 | PXD011355 | Pride
The role of POLR2A/RPB1 in kidney proximal tubule responses to DNA damage-induced acute kidney injury is unknown. We undertook treatment of HK2 cells with the DNA damaging agent aristolochic acid, with or without knockdown of POLR2A to determine the role of RPB1 in kidney cells.
ORGANISM(S): Homo sapiens 
2025-05-08 | GSE282647 | GEO
RNA polymerase II mediates the transcription of all protein-coding genes in eukaryotic cells, a process that is fundamental to life. Genomic mutations in this enzyme have not been previously linked to any pathology in humans, a testament to its indispensable role in cell biology. Based on a combinat...
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