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Showing 1 to 5 of 5 for “"Cockayne Syndrome"”.

  1. Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response

    … impedes transcription, requiring repair via Cockayne Syndrome B (CSB). Mice deficient in formaldehyde clearance (Adh5-/-) and CSB (Csbm/m) develop cachexia, neurodegeneration and succumb to kidney failure, akin to human Cockayne Syndrome (CS). Furthermore, using scRNA-seq we reveal that …

    cambridge Repository record for Aldehyde-driven transcriptional stress triggers an anorexic DNA damage response (opens in a new tab)

  2. Retinal function in deaf-blind syndromes

    … combined visual and hearing impairment. Alström syndrome is a rare autosomal recessive disease with variability in clinical phenotypes, and with visual impairment that progress to blindness in the teens. In Alström syndrome we have confirmed variability in the retinal function with different age …

    lund Repository record for Retinal function in deaf-blind syndromes (opens in a new tab)

  3. Poly (Adp) Ribose Polymerase Inhibitors For The Treatment of Malignant Peripheral Nerve Sheath Tumor

    … We also observed decreased expression of Cockayne syndrome B (CSB), a pivotal member of the transcription coupled repair (TCR) pathway. Subsequent overexpression of CSB decreased the sensitivity of a subset of MPNST cell lines to AZD2281 treatment. Our results suggest that PARP is a …

    uthsc Repository record for Poly (Adp) Ribose Polymerase Inhibitors For The Treatment of Malignant Peripheral Nerve Sheath Tumor (opens in a new tab)

  4. A STUDY OF THE INTERPLAY BETWEEN SACCHAROMYCES CEREVISIAE TRANSCRIPTION AND DNA REPAIR.

    … of Rad26p, in yeast (associated with CSB-Cockayne syndrome B, in humans), a transcription coupled DNA repair factor, having an additional role in transcription. The results reveal that Rad26p plays a novel role in the regulation of elongation by modulating histone H2A-H2B dimer occupancy. …

    siu-theses Repository record for A STUDY OF THE INTERPLAY BETWEEN SACCHAROMYCES CEREVISIAE TRANSCRIPTION AND DNA REPAIR. (opens in a new tab)