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Xeroderma Pigmentosum

Known as: pigmentosum xeroderma, Melanosis Lenticularis Progressiva, Kaposis Disease 
An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling… 
National Institutes of Health

Related topics

Related topics

34 relations
Basal cell carcinomaBlood supply aspectsCutaneous MelanomaDDB2 gene

Narrower (11)

De Sanctis-Cacchione syndromeXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP CXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP EXFE Progeroid Syndrome

Broader (3)

Ectodermal DysplasiaHereditary DiseasesSkin Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
UV-damaged DNA-binding Proteins Are Targets of CUL-4A-mediated Ubiquitination and Degradation*
Cul-4A, which encodes a member of the cullin family subunit of ubiquitin-protein ligases, is expressed at abnormally high levels… 
Highly Cited
1998
Highly Cited
1998
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.
The xeroderma pigmentosum (XP) group D (XPD) gene encodes a DNA helicase that is a subunit of the transcription factor IIH… 
Review
1994
Review
1994
Can we predict solar ultraviolet radiation as the causal event in human tumours by analysing the mutation spectra of the p53 gene?
Highly Cited
1992
Highly Cited
1992
SSL2, a suppressor of a stem-loop mutation in the HIS4 leader encodes the yeast homolog of human ERCC-3
Highly Cited
1989
Highly Cited
1989
Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum.
For isolation of the gene responsible for xeroderma pigmentosum (XP) complementation group A, plasmid pSV2gpt and genomic DNA… 
Highly Cited
1988
Highly Cited
1988
Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain.
We have documented mortality and cancer incidence in the families of 67 patients with ataxia-telangiectasia and 48 patients with… 
Highly Cited
1981
Highly Cited
1981
Removal of O6-methylguanine from DNA of normal and xeroderma pigmentosum-derived lymphoblastoid lines
The ability to excise (repair) UV-induced pyrimidine dimers in Escherichia coli is not related to its ability to remove N-methyl… 
Highly Cited
1977
Highly Cited
1977
The inhibition of repair in UV irradiated human cells.
Highly Cited
1977
Highly Cited
1977
Repair of DNA damaged by alkylating carcinogens is defective in xeroderma pigmentosum-derived fibroblasts
THE human hereditary skin disease xeroderma pigmentosum (XP) is characterised by extreme sensitivity to sunlight and a high… 
Highly Cited
1973
Highly Cited
1973
Use of UV endonuclease from Micrococcus luteus to monitor the progress of DNA repair in UV-irradiated human cells.
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