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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
2006
Highly Cited
2006
The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites.
Xeroderma pigmentosum (XP) is a heritable human disorder characterized by defects in nucleotide excision repair (NER) and the… 
Highly Cited
2005
Highly Cited
2005
Centrin 2 Stimulates Nucleotide Excision Repair by Interacting with Xeroderma Pigmentosum Group C Protein
ABSTRACT Xeroderma pigmentosum group C (XPC) protein plays a key role in DNA damage recognition in global genome nucleotide… 
Highly Cited
2003
Highly Cited
2003
The Ubiquitin Ligase Activity in the DDB2 and CSA Complexes Is Differentially Regulated by the COP9 Signalosome in Response to DNA Damage
Highly Cited
1997
Highly Cited
1997
In vitro repair of oxidative DNA damage by human nucleotide excision repair system: possible explanation for neurodegeneration in xeroderma pigmentosum patients.
Xeroderma pigmentosum (XP) patients fail to remove pyrimidine dimers caused by sunlight and, as a consequence, develop multiple… 
Highly Cited
1997
Highly Cited
1997
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
The xeroderma pigmentosum group D (XPD) protein has a dual function, both in nucleotide excision repair of DNA damage and in… 
Highly Cited
1993
Highly Cited
1993
Differential induction of transcriptionally active p53 following UV or lonizing radiation: Defects in chromosome instability syndromes?
Highly Cited
1988
Highly Cited
1988
Xeroderma pigmentosum group E cells lack a nuclear factor that binds to damaged DNA.
The disease xeroderma pigmentosum is characterized by deficient repair of damaged DNA. Fusions of cells from different patients… 
Review
1984
Review
1984
DNA repair protects against cutaneous and internal neoplasia: evidence from xeroderma pigmentosum.
Xeroderma pigmentosum (XP), is a rare, autosomal recessive disease with sun sensitivity and multiple neoplasms in association… 
Highly Cited
1976
Highly Cited
1976
Frequency of ultraviolet light-induced mutations is higher in xeroderma pigmentosum variant cells than in normal human cells
PATIENTS with the inherited disease, xeroderma pigmentosum (XP), are subject to multiple carcinomas of the skin on areas exposed… 
Highly Cited
1969
Highly Cited
1969
Evidence that xeroderma pigmentosum cells do not perform the first step in the repair of ultraviolet damage to their DNA.
Xeroderma pigmentosum (XP) is a recessively transmitted disorder of man characterized by increased sensitivity to ultraviolet… 
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