Zobrazeno 1 - 10
of 1 211
pro vyhledávání: '"Xpc"'
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
Akademický článek
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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
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
Publikováno v:
Genes, Vol 14, Iss 7, p 1349 (2023)
Cigarette smoking (CS) is a major cause of various serious diseases due to tobacco chemicals. There is evidence suggesting that CS has been linked with the DNA damage repair system, as it can affect genomic stability, inducing genetic changes in the
Externí odkaz:
https://doaj.org/article/885587347fd8425980013795ab7577c0
Autor:
Samuel Laberge, Daniel Akoum, Piotr Wlodarczyk, Jean-Daniel Massé, Dominique Fournier, Abdelhabib Semlali
Publikováno v:
Genes, Vol 14, Iss 6, p 1202 (2023)
Periodontitis is a chronic inflammatory disease that affects the supporting structures of teeth. In the literature, the association between the pathogenicity of bacteria and environmental factors in this regard have been extensively examined. In the
Externí odkaz:
https://doaj.org/article/be8c8c771408421e8d86ce141c571c09
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
Autor:
Ji-In Seo, Chikako Nishigori, Jung Jin Ahn, Jae Young Ryu, Junglok Lee, Mu-Hyoung Lee, Su Kang Kim, Ki-Heon Jeong
Publikováno v:
Medicina, Vol 59, Iss 4, p 699 (2023)
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the XPC gene (rs121965088: c.1735C > T, p.Arg579Ter). While
Externí odkaz:
https://doaj.org/article/be7ceb9190ff4f1d87b36dadea47d935