• Quantitative frequencies of clinical abnormalities in xeroderma pigmentosum were
estimated by abstracting published descriptions of 830 patients in 297 articles obtained from …

Mounting evidence suggests that DNA damage plays a central role in aging. Multiple tiers of
defense have evolved to reduce the accumulation of DNA damage, including reducing …

For the initiation of transcription, RNA polymerase II (Pol II) assembles with general
transcription factors on promoter DNA to form the pre-initiation complex (PIC). Here we …

Background The frequency of cancer, neurologic degeneration and mortality in xeroderma
pigmentosum (XP) patients with defective DNA repair was determined in a four decade …

Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased
susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface …

Interstrand DNA crosslinks (ICLs) are the link between Watson-Crick strands of DNAs with
the covalent bond and prevent separation of DNA strands. Since the ICL lesion affects both …

Mutations in XPB, an essential subunit of the transcription/repair factor TFIIH, lead to
nucleotide excision repair (NER) defects and xeroderma pigmentosum (XP). The role of XPB …

The interpretation of genomic variants has become one of the paramount challenges in the
post-genome sequencing era. In this review we summarize nearly 20 years of research on …

Epidermodysplasia verruciformis (EV) is characterized by persistent cutaneous lesions
caused by a specific group of related human papillomavirus genotypes (EV-HPVs) in …

Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem
degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651) …