Sort   by:  
 Page size 
ProteomicsResidual CSB activity explains UVSS caused by CSB mutations
Transcription-Coupled Nucleotide Excision Repair (TC-NER) preserves transcriptional integrity by repairing transcription-blocking lesions (TBLs), which are highly cytotoxic if left unresolved. TC-NER is initiated when RNA Polymerase II (Pol II) stalls at a lesion and is recognized by CSB, followed b...
ORGANISM(S): Homo sapiens (Human) 
2026-06-18 | PXD074100 | Pride
Transcription-coupled nucleotide excision repair (tc-ner) Uvss Csb 
Methylation profilingDNA methylation of fibroblasts from Cockayne syndrome and UV-sensitivity syndrome patients [EPIC]
Cockayne syndrome (CS) is a rare genetic disorder caused by mutation of the DNA repair and chromatin remodelling proteins CSA or CSB. Increasing evidences indicate that the progeroid phenotype of CS cannot be solely ascribed to impaired DNA repair, and UV-sensitivity syndrome (UVSS) patients that ar...
ORGANISM(S): Homo sapiens 
2023-12-24 | GSE163840 | GEO
Methylation profilingDNA methylation of fibroblasts from Cockayne syndrome and UV-sensitivity syndrome patients [450k]
Cockayne syndrome (CS) is a rare genetic disorder caused by mutation of the DNA repair and chromatin remodelling proteins CSA or CSB. Increasing evidences indicate that the progeroid phenotype of CS cannot be solely ascribed to impaired DNA repair, and UV-sensitivity syndrome (UVSS) patients that ar...
ORGANISM(S): Homo sapiens 
2023-12-24 | GSE163839 | GEO
UnknownComplete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.
Not available
S-EPMC524447 | biostudies-literature
UnknownUVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells.
Not available
S-EPMC3506910 | biostudies-literature
UnknownEpigenomic signature of accelerated ageing in progeroid Cockayne syndrome.
Not available
S-EPMC10577576 | biostudies-literature
TranscriptomicsGeneration of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state
Cockayne syndrome (CS) is a severe disorder with no effective treatment. The Cockayne syndrome group B (CSB) gene is one gene responsible for CS and also causes UV sensitive syndrome (UVSS), a disorder that causes mild symptoms. How the CSB gene determines a patient’s fate is unknown, but one intrig...
ORGANISM(S): Homo sapiens 
2018-04-09 | GSE111989 | GEO
UnknownA C. elegans homolog for the UV-hypersensitivity syndrome disease gene UVSSA.
Not available
S-EPMC4886821 | biostudies-literature
GenomicsGeneration of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state
PRJNA438889 | ENA
UnknownA Homozygous Nonsense Variant in UVSSA Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran.
Not available
S-EPMC10772785 | biostudies-literature
Sort   by:  
 Page size