ReviewThe Journal of investigative dermatology2012
Shining a light on xeroderma pigmentosum.
Review in The Journal of investigative dermatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 282 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
282 citing papers in PubMed, 1 synthesis or guideline pooled it, 526 citations in OpenAlex.
- Polymorphisms of nucleotide excision repair genes associated with colorectal cancer risk: Meta-analysis and trial sequential analysis.Frontiers in genetics · 2022Pooled it
- What Is Pediatric Melanoma? Clinical and Genomic Features and the Role of Next-Generation Sequencing in Tumor Classification.International journal of dermatology · 2026Review
- XPA lactylation is required for UV-induced DNA damage repair.Nucleic acids research · 2026Article
- Dynamics of mutators of arbitrary dominance in humans.bioRxiv : the preprint server for biology · 2026Article
- Acute Myeloid Leukemia in a Patient With Xeroderma Pigmentosum: A Case Report.Clinical case reports · 2026Article
- Molecular basis of UV lesion binding and repair inhibition by ETS-family transcription factors.Nucleic acids research · 2026Article
- Genome-wide mutation spectra of canonical and atypical UV photoproducts in S. cerevisiae.Nucleic acids research · 2026Article
- High cancer-associated mutational burden in normal blood of xeroderma pigmentosum group C, but not groups A, D, or F.Blood neoplasia · 2026Article
- Successful Interstitial HDR Brachytherapy for Nasal Skin SCC in Xeroderma Pigmentosum: An Eight-Year Follow-Up Case Report.Clinical case reports · 2026Article
- From Xeroderma Pigmentosum to malignant melanoma: case of an 8-year-old boy.Oxford medical case reports · 2026Article
- Evaluation of ERCC4 (XPF) gene rs6498486 polymorphism and its potential role in breast cancer risk among Bangladeshi women.BMC cancer · 2026Article
- Molecular basis of UV lesion binding and repair inhibition by ETS-family transcription factors.bioRxiv : the preprint server for biology · 2026Article
- Design of synthetic selenopeptides with antioxidant activity for the treatment of XP and non-melanoma skin cancer.Frontiers in systems biology · 2026Article
- Malignant Transformation and Management of Cutaneous Squamous Cell Carcinoma in a 7-Year-Old Child with Xeroderma Pigmentosum: A Case Report from Somaliland.International medical case reports journal · 2026Article
- Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.Human mutation · 2026Article
- XPA confers ability of endonucleases to act processively and to incise damaged nucleosomal DNA.Experimental biology and medicine (Maywood, N.J.) · 2026Review
- Differential effects of mercury compounds on mutagenicity, genotoxicity and repair of UV-DNA damage.Toxicology · 2025Article
- XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.The Journal of clinical investigation · 2025Article
- Uncovering the Role of DNA Repair Impairment in UVA-Induced Mutagenesis in Human Xeroderma Pigmentosum Variant Cells.Molecular carcinogenesis · 2025Article
- Xeroderma pigmentosum associated with recurrent squamous and basal cell carcinoma: a case report from Nepal.Annals of medicine and surgery (2012) · 2025Article
222 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun sensitivity and UV radiation-induced skin and mucous membrane cancers. Initially described in 1874 by Moriz Kaposi in Vienna, nearly 100 years later, James Cleaver in San Francisco reported defective DNA repair in XP cells. This eventually provided the basis for a mechanistic link between sun exposure, DNA damage, somatic mutations, and skin cancer. XP cells were found to have defects in seven of the proteins of the nucleotide excision repair pathway and in DNA polymerase η. XP cells are hypersensitive to killing by UV radiation, and XP cancers have characteristic "UV signature" mutations. Clinical studies at the National Institutes of Health found a nearly 10,000-fold increase in skin cancer in XP patients under the age of 20 years, demonstrating the substantial importance of DNA repair in cancer prevention in the general population. Approximately 25% of XP patients have progressive neurological degeneration with progressive loss of neurons, probably from DNA damage induced by oxidative metabolism, which kills nondividing cells in the nervous system. Interestingly, patients with another disorder, trichothiodystrophy, have defects in some of the same genes as XP, but they have primary developmental abnormalities without an increase in skin cancer.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.