Xeroderma pigmentosum: a useful model to study the relation between genomic mutations and cell transformation.
Summary of "Xeroderma pigmentosum: a useful model to study the relation between genomic mutations and cell transformation."
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Inserm U1035, Bordeaux, F-33000, France; Université Bordeaux Segalen, Bordeaux, F-33000, France.
This article was published in the following journal.
Name: Medecine sciences : M/S
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21609663
- DOI: http://dx.doi.org/10.1051/medsci/2011275007
Medical and Biotech [MESH] Definitions
Xeroderma Pigmentosum Group D Protein
A DNA helicase that is a component of TRANSCRIPTION FACTOR TFIIH. It plays an essential role in NUCLEOTIDE EXCISION REPAIR, and mutations in this protein are associated with XERODERMA PIGMENTOSUM.
Xeroderma Pigmentosum Group A Protein
A ZINC FINGER MOTIF protein that recognizes and interacts with damaged DNA. It is a DNA-binding protein that plays an essential role in NUCLEOTIDE EXCISION REPAIR. Mutations in this protein are associated with the most severe form of XERODERMA PIGMENTOSUM.
A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.
Transcription Factor Tfiih
A general transcription factor that is involved in basal GENETIC TRANSCRIPTION and NUCLEOTIDE EXCISION REPAIR. It consists of nine subunits including ATP-DEPENDENT DNA HELICASES; CYCLIN H; and XERODERMA PIGMENTOSUM GROUP D PROTEIN.
Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.
The nucleotide excision repair pathway catalyzes the removal of bulky adduct damage from DNA and requires the activity of more than 30 individual proteins and complexes. A diverse array of damage can...
DNA repair capacity (DRC) can be altered based on sequence variations in DNA repair genes, which may result in cancer susceptibility. The current study was to evaluate the association between genetic...
Despite aggressive sun protection, most individuals with xeroderma pigmentosum (XP) develop cutaneous neoplasia, including actinic keratoses. We describe the case of a 16-year-old girl with XP typ...
The interaction of xeroderma pigmentosum group A protein (XPA) and replication protein A (RPA) with damaged DNA in nucleotide excision repair (NER) was studied using model dsDNA and bubble-DNA structu...
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of DNA repair characterised by photosensitivity, progressive pigmentary change, and an increased incidence of ultraviolet (UV)-induced...
RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer and may lead to both earlier detection and prevention of tumo...
RATIONALE: Screening individuals who have a xeroderma pigmentosum gene alteration may help doctors identify persons at risk of developing cancer and identify other cancer genes. PURPOSE:...
RATIONALE: Patients with xeroderma pigmentosum are more likely to develop skin lesions in sun-affected areas. These skin lesions, such as actinic keratoses, can develop into skin cancer. T...
Study aim: To determine the effect of an intensified daily photoprotection over 24 months with an SPF30 sunscreen and an after sun-lotion both containing liposomal DNA repair enzymes in a...
RATIONALE: Chemoprevention therapy is the use of certain drugs to try to prevent the development or recurrence of cancer. Isotretinoin may be effective in preventing the development or rec...