"Xeroderma Pigmentosum" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D014983
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| MeSH Number(s) |
C04.834.867 C16.131.831.936 C16.320.850.970 C17.800.600.925 C17.800.621.936 C17.800.804.936 C17.800.827.970 C18.452.284.975
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Xeroderma Pigmentosum".
Below are MeSH descriptors whose meaning is more specific than "Xeroderma Pigmentosum".
This graph shows the total number of publications written about "Xeroderma Pigmentosum" by people in this website by year, and whether "Xeroderma Pigmentosum" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 0 | 1 | 1 |
| 2001 | 0 | 1 | 1 |
| 2007 | 1 | 0 | 1 |
| 2013 | 0 | 1 | 1 |
| 2014 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
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Below are the most recent publications written about "Xeroderma Pigmentosum" by people in Profiles.
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Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations. Proc Natl Acad Sci U S A. 2020 06 23; 117(25):14127-14138.
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Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol. 2017 Dec; 56(12):1406-1413.
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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res. 2017 Jun 01; 23(11):e23-e31.
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Xeroderma pigmentosa: three new cases with an in depth review of the genetic and clinical characteristics of the disease. Fetal Pediatr Pathol. 2015 Apr; 34(2):120-7.
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The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). Acta Neuropathol Commun. 2013 May 08; 1:4.
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Polymorphisms of nucleotide excision repair genes predict melanoma survival. J Invest Dermatol. 2013 Jul; 133(7):1813-21.
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Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. Proc Natl Acad Sci U S A. 2013 Jan 15; 110(3):E212-20.
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The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome. Cell Cycle. 2011 Jun 15; 10(12):1998-2007.
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XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase. DNA Repair (Amst). 2011 Jul 15; 10(7):697-713.
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NER factors are recruited to active promoters and facilitate chromatin modification for transcription in the absence of exogenous genotoxic attack. Mol Cell. 2010 Apr 09; 38(1):54-66.