The DOI matches its Crossref record; 125 of the 125 references it cites were found in a registry or an index.
Nucleotide excision repair and cancer
Abstract
Nucleotide excision repair (NER) is the most versatile and best studied DNA repair system in humans. NER can repair a variety of bulky DNA damages including UV-light induced DNA photoproducts. NER consists of a multistep process in which the DNA lesion is recognized and demarcated by DNA unwinding. Then, an approximately 28 bp DNA damage containing oligonucleotide is excised followed by gap filling using the undamaged DNA strand as a template. The consequences of defective NER are demonstrated by three rare autosomal-recessive NER-defective syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). XP patients show severe sun sensitivity, freckling in sun exposed skin, and develop skin cancers already during childhood. CS patients exhibit sun sensitivity, severe neurologic abnormalities, and cachectic dwarfism. Clinical symptoms of TTD patients include sun sensitivity, freckling in sun exposed skin areas, and brittle sulfur-deficient hair. In contrast to XP patients, CS and TTD patients are not skin cancer prone. Studying these syndromes can increase the knowledge of skin cancer development including cutaneous melanoma as well as basal and squamous cell carcinoma in general that may lead to new preventional and therapeutic anticancer strategies in the normal population.
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“TTDA (general transcription factor IIH subunit 5) and TTDN1 (trichothiodystrophy non-photosensitive 1) genes may also harbor a mutation; however, they do not contribute to UV sensitivity [107,160,161,162].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [161]
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Metadata
- Authors
- Leibeling, D., Laspe, P., & Emmert, S.
- Affiliations
- University of Göttingen (DE)
- Corresponding author
- Emmert, Steffen
- ORCID
- Emmert, Steffen
- Venue
- Journal of Molecular Histology
- Published
- 2006-07-20
- Volume
- 37
- Issue
- 5-7
- Pages
- 225-238
- ISSN
- 1567-2379 (ISSN-L)
- 1567-2387
- OpenAlex
- W2140447069
- Cited by
- 164
- References
- 124
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 5 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 9 · 2019: 6 · 2018: 12 · 2017: 5 · 2016: 8 · 2015: 8 · 2014: 9 · 2013: 15 · 2012: 13
- FWCI
- 0.95
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Molecular Histology (publishedVersion)
- PubMed (publishedVersion)
- GRO (submittedVersion)
- Funders
- Deutsche Forschungsgemeinschaft
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Health Sciences › Medicine › Dermatology › Nonmelanoma Skin Cancer Studies
- Keywords
- nucleotide excision repair, DNA repair, xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, UV-induced DNA damage, DNA photoproducts, skin cancer, cutaneous melanoma, basal cell carcinoma, squamous cell carcinoma, sun sensitivity, DNA damage recognition, gap filling
- MeSH terms
- Cockayne Syndrome, DNA Repair, Hair Diseases, Humans, Neoplasms, Syndrome, Xeroderma Pigmentosum
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