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Quoted phrase not found in phrase index: "UV-sensitive syndrome 1"
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The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.
Muzammal M, Ali MZ, Ahmad S, Huma S; Rizwan; Ahmad S, Abbasi AA, Khan S, Khan MA. Muzammal M, et al. J Pak Med Assoc. 2021 Oct;71(10):2391-2396. doi: 10.47391/JPMA.03-476. J Pak Med Assoc. 2021. PMID: 34974577 Free article. Review.
Its precise prevalence is still unknown, but, according to an estimate, its prevalence ratio is 1:100,000 worldwide. Until now, only three genes have been reported to be involved in the syndrome; the Excision Repair Cross-Complementing, Group 6, the Excision Repair Cross-C …
Its precise prevalence is still unknown, but, according to an estimate, its prevalence ratio is 1:100,000 worldwide. Until now, only …
Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.
Brambullo T, Colonna MR, Vindigni V, Piaserico S, Masciopinto G, Galeano M, Costa AL, Bassetto F. Brambullo T, et al. Biomed Res Int. 2022 Jul 18;2022:8549532. doi: 10.1155/2022/8549532. eCollection 2022. Biomed Res Int. 2022. PMID: 35898688 Free PMC article. Review.
This systematic review focused on the correlation between the clinical, pathological, and genetic aspects of XP and skin cancer. ...Search terms were "Xeroderma pigmentosum", "XP", "XPC", "Nucleotide excision repair", "NER", "POLH", "Dry pigmented skin", and "UV
This systematic review focused on the correlation between the clinical, pathological, and genetic aspects of XP and skin cancer. ...S …
Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition.
Yew YW, Giordano CN, Spivak G, Lim HW. Yew YW, et al. J Am Acad Dermatol. 2016 Nov;75(5):873-882. doi: 10.1016/j.jaad.2016.03.044. J Am Acad Dermatol. 2016. PMID: 27745642 Review.
Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-facial-skeletal syndrome, ultraviolet-sensitive syndrome, and trichothiodystrophy will be discussed. ...
Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-f …
Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.
Hosseini M, Ezzedine K, Taieb A, Rezvani HR. Hosseini M, et al. J Invest Dermatol. 2015 Feb;135(2):341-351. doi: 10.1038/jid.2014.365. Epub 2014 Oct 9. J Invest Dermatol. 2015. PMID: 25296907 Free article. Review.
The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-oculo-facio-skeletal (COFS) syndrome, UV-sensitive syndrome (UVSS), trichothiodystrophy (TTD), or combined syndromes inc …
The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-o …