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GenomicsComparative transcriptomic analysis of WT and XP-C fibroblasts cultured in 3D-dermal equivalents
Comparative transcriptomic analysis of WT and XP-C fibroblasts cultured in 3D-dermal equivalents
PRJNA549922 | ENA
TranscriptomicsComparative transcriptomic analysis of WT and XP-C fibroblasts cultured in 3D-dermal equivalents
Xeroderma Pigmentosum (XP) is a rare autosomal genetic disease. XP patients present a default in the mechanism responsible for the repair of UV-induced DNA lesions. They are prone to develop skin cancers with high frequencies early in their life. To identify microenvironment factors that could contr...
ORGANISM(S): Homo sapiens 
2019-09-19 | GSE133084 | GEO
ProteomicsMS-based quantitative proteomic analysis of UVB irradiation in XPC-deficient keratinocytes
Xeroderma Pigmentosum C (XPC) is a DNA damage recognition protein central to the global genome nucleotide excision repair (GG-NER) pathway, where it acts as a primary sensor of UV-induced DNA lesions. Loss-of-function mutations in the XPC gene lead to a photosensitive phenotype, with marked accumula...
ORGANISM(S): Homo sapiens (Human) 
2026-02-23 | PXD069309 | Pride
Human Keratinocytes Xp-c disease Nanolc-ms/ms Uvb 
ProteomicsHuman prion disease iTRAQ - Proteomic Analyses for the Global S-Nitrosylated Proteins in the Brain Tissues of Different Human Prion Diseases
Human prion diseases are fatal neurodegenerative disorders characterized by neuronal damage in brain. Protein S-nitrosylation, the covalent adduction of a NO to cysteine, plays a role in human brain biology, and brain dysfunction is a prominent feature of pPrion disease, yet the direct brain targets...
ORGANISM(S): Homo sapiens (Human) 
2015-10-01 | PXD002813 | Pride
S-nitrosylation Proteomic analysis Isobaric tags for relative and absolute quantitation Human prion diseases 
ProteomicsHuman prion disease iTRAQ
Human prion diseases are fatal neurodegenerative disorders characterized by neuronal damage in brain. Protein S-nitrosylation, the covalent adduction of a NO to cysteine, plays a role in human brain biology, and brain dysfunction is a prominent feature of pPrion disease, yet the direct brain targets...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-29 | MSV000080756 | MassIVE
GenomicsMutator phenotype and specific mutational signature explain an increased risk of hematological malignancies in patients with Xeroderma Pigmentosum
In this study we report for the first time the unique collection of 6 leukemias and two sarcomas from XP-C. Comprehensive WGS-based mutational analysis provides genetic explanation for the increased incidence of leukemia in XP-C and describes an unique mutational process in internal tumors associate...
EGAS00001004511 | EGA
GenomicsStriatal genes regulated by super-enhancers and displaying low paused RNAPII are preferentially down-regulated in Huntington’s disease [ChIP-seq]
Huntington neurodegenerative disease (HD) is associated with extensive down-regulation of neuronal genes. We show preferential down-regulation of super-enhancer-regulated neuronal function genes in the striatum of HD mice. Striatal super-enhancers display extensive H3K27 acetylation within gene bodi...
ORGANISM(S): Mus musculus 
2015-04-01 | E-GEOD-59570 | biostudies-arrayexpress
TranscriptomicsGenome-wide analysis of human global and transcription-coupled excision repair of UV damage at single-nucleotide resolution
We developed a method for genome-wide mapping of DNA excision repair named XR-seq (eXcision Repair-seq). Human nucleotide excision repair generates two incisions surrounding the site of damage, creating a ~30-mer. In XR-seq, this fragment is isolated and subjected to high-throughput sequencing. We u...
ORGANISM(S): Homo sapiens 
2015-04-19 | E-GEOD-67941 | biostudies-arrayexpress
TranscriptomicsStriatal genes regulated by super-enhancers and displaying low paused RNAPII are preferentially down-regulated in Huntington’s disease [RNA-seq]
Huntington neurodegenerative disease (HD) is associated with extensive down-regulation of neuronal genes. We show preferential down-regulation of super-enhancer-regulated neuronal function genes in the striatum of HD mice. Striatal super-enhancers display extensive H3K27 acetylation within gene bodi...
ORGANISM(S): Mus musculus 
2015-04-01 | E-GEOD-59571 | biostudies-arrayexpress
UnknownFirst genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation.
Not available
S-EPMC10265042 | biostudies-literature
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