English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Tools annual

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Presents the access of premium content as premium feature

Premium Content

Global: Zendy Plus annual

Global: Zendy Free Plan

Significance Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD), which may arise from mutations in the same genes, are distinct clinical entities with opposite skin cancer predisposition. Whereas XP is characterized by cutaneous photosensitivity and cancer proneness frequently associated with neurodegeneration, TTD shows hair anomalies, physical and mental retardation, and, in 50% of cases, cutaneous photosensitivity but no skin cancer despite the accumulation of unrepaired ultraviolet-induced DNA lesions. This study identifies a TTD-specific transcription deregulation ofPTGIS (prostaglandin I2 synthase) that results in reduced levels of prostaglandin I2 . Reduced PTGIS is found in all TTD but not in XP patients, thus representing a biomarker for this disorder.

Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

Reduced levels of prostaglandin I ₂ synthase: a distinctive feature of the cancer-free trichothiodystrophy