Zobrazeno 1 - 10
of 1 193
pro vyhledávání: '"XPC"'
Publikováno v:
Biochemistry and Biophysics Reports, Vol 40, Iss , Pp 101875- (2024)
Gene therapy for xeroderma pigmentosum (XP), a rare, recessive DNA repair disease, has been considered since defects in XP genes result in severe and debilitating symptoms. Mutations in the XPC DNA repair gene result in a more that 1000-fold increase
Externí odkaz:
https://doaj.org/article/7b20e0a3927748f0913f8e992dd25b43
Akademický článek
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Autor:
Franciele Antonieta Bianchi Leidenz, Flavia Vasques Bittencourt, Williana Garcia Braga, Ellio Magno de Sá Araujo, Carolina Cavalieri Gomes, Vanessa de Fatima Bernardes, Eitan Friedman, Luiz De Marco
Publikováno v:
Dermatology Practical & Conceptual, Vol 14, Iss 1 (2024)
Introduction: Xeroderma pigmentosum (XP), a rare inherited condition, hallmarked by extreme sensitivity to sun exposure resulting in multiple skin cancers and non-malignant skin alterations is attributed to homozygous inactivating pathogenic variants
Externí odkaz:
https://doaj.org/article/1d7834cca6f541a2b3f0518df49e6eb1
Autor:
Adriana-Stela Crișan, Florin Tripon, Alina Bogliș, George-Andrei Crauciuc, Adrian P. Trifa, Erzsébet Lázár, Ioan Macarie, Manuela Rozalia Gabor, Claudia Bănescu
Publikováno v:
Medicina, Vol 60, Iss 3, p 506 (2024)
Background and Objectives: Several polymorphisms have been described in various DNA repair genes. Nucleotide excision DNA repair (NER) detects defects of DNA molecules and corrects them to restore genome integrity. We hypothesized that the XPC, XPD,
Externí odkaz:
https://doaj.org/article/179c135c7be743f595319b23f1e1e413
Autor:
Meriame Abbassi, Hanane Sayel, Nadia Senhaji, Said Trhanint, Hanane Bay Bay, Laila Bouguenouch, Fatima Zahra Mernisi
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-10 (2022)
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity with increased risk of skin tumors. XP is caused by mutations i
Externí odkaz:
https://doaj.org/article/5c5e91126bd44e1fba166f7c3cd899e8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Jingli Wang, Chengcheng Guan, Jing Sui, Yucui Zang, Yuwen Wu, Ru Zhang, Xiaoying Qi, Shunfu Piao
Publikováno v:
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background Xeroderma pigmentosum complementation group C (XPC) is a DNA damage recognition protein that plays an important role in nucleotide excision repair and can reduce oxidative stress, which may be involved in the development of preecl
Externí odkaz:
https://doaj.org/article/f2cd2305238a488cb513c2f492c6d022
Autor:
Siqin Chen, Xingyue Yin, Yuefeng He, Qinghua He, Xiaomei Li, Maosheng Yan, Suli Huang, Jiachun Lu, Binyao Yang
Publikováno v:
Frontiers in Public Health, Vol 10 (2022)
Genetic polymorphisms may contribute to individual susceptibility to DNA damage induced by environmental exposure. In this study, we evaluate the effects of co-exposure to PAHs, smoking and XPC polymorphisms, alone or combined, on damage in exons. A
Externí odkaz:
https://doaj.org/article/077bc9f363d04e7891a0ec2b02860f0c
Autor:
Maria Samara, Maria Papathanassiou, Lampros Mitrakas, George Koukoulis, Panagiotis J. Vlachostergios, Vassilios Tzortzis
Publikováno v:
Current Oncology, Vol 28, Iss 3, Pp 1879-1885 (2021)
Single nucleotide polymorphisms (SNPs) in DNA repair genes may predispose to urothelial carcinoma of the bladder (UCB). This study focused on three specific SNPs in a population with high exposure to environmental carcinogens including tobacco and al
Externí odkaz:
https://doaj.org/article/8c4619a312d349759a89d536446de529
Publikováno v:
Fishes, Vol 8, Iss 4, p 191 (2023)
Xeroderma pigmentosum complementation group C (XPC) protein recognizes bulky DNA adducts to initiate global genomic nucleotide excision repair (GG-NER). Humans carrying germline mutations in the XPC gene display strong susceptibility to skin and cert
Externí odkaz:
https://doaj.org/article/96d01b9836864deead61980c4c898379