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• W3000236334 abstract "Human mutations in the transcription and nucleotide excision repair (NER) factor TFIIH are linked with three human syndromes: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS). In particular, different mutations in the XPB, XPD and p8 subunits of TFIIH may cause one or a combination of these syndromes, and some of these mutations are also related to cancer. The participation of TFIIH in NER and transcription makes it difficult to interpret the different manifestations observed in patients, particularly since some of these phenotypes may be related to problems during development. TFIIH is present in all eukaryotic cells, and its functions in transcription and DNA repair are conserved. Therefore, Drosophila has been a useful model organism for the interpretation of different phenotypes during development as well as the understanding of the dynamics of this complex. Interestingly, phenotypes similar to those observed in humans caused by mutations in the TFIIH subunits are present in mutant flies, allowing the study of TFIIH in different developmental processes. Furthermore, studies performed in Drosophila of mutations in different subunits of TFIIH that have not been linked to any human diseases, probably because they are more deleterious, have revealed its roles in differentiation and cell death. In this review, different achievements made through studies in the fly to understand the functions of TFIIH during development and its relationship with human diseases are analysed and discussed." @default.
• W3000236334 created "2020-01-23" @default.
• W3000236334 creator A5037003258 @default.
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• W3000236334 date "2020-01-17" @default.
• W3000236334 modified "2023-10-01" @default.
• W3000236334 title "Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases" @default.
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• W3000236334 doi "https://doi.org/10.3390/ijms21020630" @default.
• W3000236334 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7013941" @default.
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