Xeroderma Pigmentosum
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Recent papers in Xeroderma Pigmentosum
Xeroderma pigmentosum(XP) is a rare autosomal recessive disease, in which the ability of the DNA repair is impaired, symptom presentation is majorly observed over the skin exposed to sunlight and can range from minor hyperpigmentation to... more
Objectives: This review aimed to group studies related to xeroderma pigmentosum, presenting their means of diagnosis and current therapeutic strategies. Methods: A search was carried out in the PubMed and Virtual Health Library (BVSALUD)... more
Beyond the disorders recognized as mitochondrial diseases, abnormalities in function and/or ultrastructure of mitochondria have been reported in several unrelated pathologies. These encompass ageing, malformations, and a number of genetic... more
DNA damage has been long recognized as causal factor for cancer development. When erroneous DNA repair leads to mutations or chromosomal aberrations affecting onco-genes and tumor suppressor genes, cells undergo malignant transformation... more
Basal cell carcinoma (BCC) is the commonest cancer in humans. Predisposing factors reflect common genetic variations and environmental influences in most cases. However, an underlying Mendelian disorder should be suspected in a specific... more
Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have... more
Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by cutaneous and ocular alterations. Eight genes, Xeroderma Pigmentosum group A (XPA) to Xeroderma Pigmentosum group G (XPG) and Xeroderma Pigmentosum group V... more
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage. A few patients have been described previously with the clinical... more
Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive diseases with mutations in the nucleotide excision repair (NER) pathway, which repairs DNA damage from UV exposure. CS is mutated in the transcription-coupled... more
Benzo[a]pyrene (BaP) is a ubiquitously distributed environmental pollutant known to cause DNA damage, which may be repaired through nucleotide excision repair (NER). However, little is known about dynamic changes in levels of DNA damage... more