Xeroderma Pigmentosum: Variable Expressions among Three Siblings
Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development.
M Srinivasa Raju +3 more
doaj
Global-genome Nucleotide Excision Repair Controlled by Ubiquitin/Sumo Modifiers [PDF]
Global-genome nucleotide excision repair (GG-NER) prevents genome instability by excising a wide range of structurally unrelated DNA base adducts and crosslinks induced by chemical carcinogens, ultraviolet (UV) radiation or intracellular metabolic by ...
Chiara Balbo Pogliano +2 more
core +2 more sources
Impaired Translesion Synthesis in Xeroderma Pigmentosum Variant Extracts [PDF]
Xeroderma pigmentosum variant (XPV) cells are characterized by a cellular defect in the ability to synthesize intact daughter DNA strands on damaged templates.
Cordonnier, Agnes M +2 more
core +3 more sources
Transferring an optimized TAP-toolbox for the isolation of protein complexes to a portfolio of rice tissues [PDF]
Proteins are the cell's functional entities. Rather than operating independently, they interact with other proteins. Capturing in vivo protein complexes is therefore crucial to gain understanding of the function of a protein in a cellular context ...
Cannoot, Bernard +12 more
core +1 more source
Unscheduled DNA synthesis in xeroderma pigmentosum cells after microinjection of yeast photoreactivating enzyme. [PDF]
Photoreactivating enzyme (PRE) from yeast causes a light-dependent reduction of UV-induced unscheduled DNA synthesis (UDS) when injected into the cytoplasm of repair-proficieint human fibroblasts (Zwetsloot et al., 1985).
Bootsma, D. (Dirk) +4 more
core +1 more source
Complementation of the xeroderma pigmentosum DNA repair synthesis defect withEscherichia coliUvrABC proteins in a cell-free system [PDF]
Johan Hansson +3 more
openalex +1 more source
Supplementary Figure 5 from Melanocyte-Stimulating Hormone Directly Enhances UV-Induced DNA Repair in Keratinocytes by a Xeroderma Pigmentosum Group A–Dependent Mechanism [PDF]
Liang Dong +9 more
openalex +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Genomic and proteomic profiling of responses to toxic metals in human lung cells. [PDF]
Examining global effects of toxic metals on gene expression can be useful for elucidating patterns of biological response, discovering underlying mechanisms of toxicity, and identifying candidate metal-specific genetic markers of exposure and response ...
Andrew, Angeline S +7 more
core +2 more sources

