Overview

xeroderma pigmentosum


'xeroderma pigmentosum' can also refer to...

xeroderma pigmentosum

xeroderma pigmentosum

xeroderma pigmentosum

xeroderma pigmentosum

Neurodegeneration in xeroderma pigmentosum

Neurological symptoms and natural course of xeroderma pigmentosum

Xeroderma pigmentosum genes: functions inside and outside DNA repair

DNA damage responses protect xeroderma pigmentosum variant from UVC-induced clastogenesis

A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism

Somatic hypermutation of Ig genes in patients with xeroderma pigmentosum (XP-D)

Characterization of Molecular Defects in Xeroderma Pigmentosum Group F in Relation to Its Clinically Mild Symptoms

Characterization of SV40-transformed xeroderma pigmentosum cell lines for their usability in HPRT mutation studies

Association Between INK4a-ARF and p53 Mutations in Skin Carcinomas of Xeroderma Pigmentosum Patients

Enhanced spontaneous and aflatoxin-induced liver tumorigenesis in xeroderma pigmentosum group A gene-deficient mice

Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts. Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes

Enhanced S phase delay and inhibition of replication of an undamaged shuttle vector in UVC-irradiated xeroderma pigmentosum variant

Xeroderma pigmentosum group A gene action as a protection factor against 4-nitroquinoline 1-oxide-induced tongue carcinogenesis

Stable transformation of xeroderma pigmentosum group A cells with an XPA minigene restores normal DNA repair and mutagenesis of UV-treated plasmids

Complete restoration of normal DNA repair characteristics in group F xeroderma pigmentosum cells by over-expression of transfected XPF cDNA.

 

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Quick Reference

A group of hereditary diseases inherited as autosomal recessives in which the skin is extremely sensitive to sunlight or ultraviolet light, and death is usually due to skin cancer. Normal skin cells can repair UV damage to DNA by cut-and-patch repair (q.v.). Skin cells from patients with xeroderma pigmentosum contain mutations in genes functioning in this process. For example, the XPA gene at 9q encodes a DNA-binding protein that recognizes damaged regions. Helicases encoded by XPB (2q) and XPD (19q) unwind the double helix and expose these damaged segments. Endonucleases encoded by XPG (13q) then cut out the defective segments. See Chronology, 1968, Cleaver. http://www.xps.org.

Subjects: Genetics and Genomics — Medicine and Health.


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