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Genetic signatures of and expression, along with SNPs variants, unveil favorable prognosis in SCLC patients undergoing platinum-based chemotherapy.
Oncol Res
December 2024
Clinical Oncology Unit, Careggi University Hospital, Florence, 50134, Italy.
Background: Platinum chemotherapy (CT) remains the backbone of systemic therapy for patients with small-cell lung cancer (SCLC). The nucleotide excision repair (NER) pathway plays a central role in the repair of the DNA damage exerted by platinum agents. Alteration in this repair mechanism may affect patients' survival.
View Article and Find Full Text PDFEvaluation of Photoaging and Sun Protection Behavior in Children With Xeroderma Pigmentosum, Group C: A Prospective Analysis.
Pediatr Dermatol
December 2024
Department of Dermatology and Venereology and Ophthalmology, All India Institute of Medical Sciences, New Delhi, India.
Thirteen children with xeroderma pigmentosum variant C were evaluated using the Dermoscopic Photoaging Assessment Scale (DPAS), the Glogau scale, and the Sun Protection Behavior Scale (SPBS). Most patients exhibited signs of epidermal photoaging, with pigmentary and vascular changes and poor sun protection behavior (mean SPBS score: 18.92 ± 5.
View Article and Find Full Text PDFGeneration and characterization of CRISPR-Cas9-mediated XPC gene knockout in human skin cells.
Sci Rep
December 2024
Univ. Grenoble Alpes, CEA, Inserm, IRIG, UA13 BGE, Biomics, Grenoble, 38000, France.
Xeroderma pigmentosum group C (XPC) is a versatile protein crucial for sensing DNA damage in the global genome nucleotide excision repair (GG-NER) pathway. This pathway is vital for mammalian cells, acting as their essential approach for repairing DNA lesions stemming from interactions with environmental factors, such as exposure to ultraviolet (UV) radiation from the sun. Loss-of-function mutations in the XPC gene confer a photosensitive phenotype in XP-C patients, resulting in the accumulation of unrepaired UV-induced DNA damage.
View Article and Find Full Text PDFTranscription-coupled repair - mechanisms of action, regulation, and associated human disorders.
FEBS Lett
December 2024
Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Furo-cho, Chikusa-ku, Nagoya, 464-8601, Japan.
The transcription-coupled repair (TCR) pathway resolves transcription-blocking DNA lesions to maintain cellular function and prevent transcriptional arrest. Stalled RNA polymerase II (RNAPII) triggers repair mechanisms, including RNAPII ubiquitination, which recruit UVSSA and TFIIH. Defects in TCR-associated genes cause disorders like Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and recently defined AMeDS.
View Article and Find Full Text PDFA Case of Xeroderma Pigmentosum Variant Type With a Novel Mutation Diagnosed in Early Childhood.
Photodermatol Photoimmunol Photomed
January 2025
Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
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