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Xeroderma pigmentosum complementation group E and UV-damaged DNA-binding protein.
Tang J, Chu G. Tang J, et al. DNA Repair (Amst). 2002 Aug 6;1(8):601-16. doi: 10.1016/s1568-7864(02)00052-6. DNA Repair (Amst). 2002. PMID: 12509284 Free PMC article. Review.
Mutations in the DDB2 gene inactivate UV-DDB in individuals from complementation group E of xeroderma pigmentosum (XP-E), an autosomal recessive disease characterized by sun sensitivity, severe risk for skin cancer and defective nucleotide excis …
Mutations in the DDB2 gene inactivate UV-DDB in individuals from complementation group E of xeroderma pigmentosum …
Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation.
Puumalainen MR, Rüthemann P, Min JH, Naegeli H. Puumalainen MR, et al. Cell Mol Life Sci. 2016 Feb;73(3):547-66. doi: 10.1007/s00018-015-2075-z. Epub 2015 Oct 31. Cell Mol Life Sci. 2016. PMID: 26521083 Free PMC article. Review.
The cellular defense system known as global-genome nucleotide excision repair (GG-NER) safeguards genome stability by eliminating a plethora of structurally unrelated DNA adducts inflicted by chemical carcinogens, ultraviolet (UV) radiation or endogenous metabolic by-products. …
The cellular defense system known as global-genome nucleotide excision repair (GG-NER) safeguards genome stability by eliminating a plethora …
Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.
Yang R, Kong Q, Duan Y, Li W, Sang H. Yang R, et al. BMC Med Genet. 2020 Mar 30;21(1):67. doi: 10.1186/s12881-020-00997-0. BMC Med Genet. 2020. PMID: 32228487 Free PMC article. Review.
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients are generally not diagnosed until …
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of …
Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome.
Itoh T. Itoh T. J Dermatol Sci. 2006 Feb;41(2):87-96. doi: 10.1016/j.jdermsci.2005.10.010. Epub 2005 Dec 1. J Dermatol Sci. 2006. PMID: 16325378 Review.
Xeroderma pigmentosum is a rare photosensitive syndrome that comprises eight different genetic diseases (A to G; variant (V)). Although genotype-phenotype correlations have been evaluated in most XP groups, the relationship between the E subgroup of xerode …
Xeroderma pigmentosum is a rare photosensitive syndrome that comprises eight different genetic diseases (A to G; variant (V)). …
Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation.
Musich PR, Li Z, Zou Y. Musich PR, et al. Adv Exp Med Biol. 2017;996:41-54. doi: 10.1007/978-3-319-56017-5_4. Adv Exp Med Biol. 2017. PMID: 29124689 Free PMC article. Review.
The sensitivity of Xeroderma pigmentosa (XP) patients to sunlight has spurred the discovery and genetic and biochemical analysis of the eight XP gene products (XPA-XPG plus XPV) responsible for this disorder. ...
The sensitivity of Xeroderma pigmentosa (XP) patients to sunlight has spurred the discovery and genetic and biochemical analysis of t …
DNA Damage-Induced Neurodegeneration in Accelerated Ageing and Alzheimer's Disease.
Wang H, Lautrup S, Caponio D, Zhang J, Fang EF. Wang H, et al. Int J Mol Sci. 2021 Jun 23;22(13):6748. doi: 10.3390/ijms22136748. Int J Mol Sci. 2021. PMID: 34201700 Free PMC article. Review.
Mutations on genes encoding key DNA repair proteins can lead to diseases with accelerated ageing phenotypes. Some of these diseases are xeroderma pigmentosum group A (XPA, caused by mutation of XPA), Cockayne syndrome group A and group B (CSA, C …
Mutations on genes encoding key DNA repair proteins can lead to diseases with accelerated ageing phenotypes. Some of these diseases are x …
Expanding molecular roles of UV-DDB: Shining light on genome stability and cancer.
Beecher M, Kumar N, Jang S, Rapić-Otrin V, Van Houten B. Beecher M, et al. DNA Repair (Amst). 2020 Oct;94:102860. doi: 10.1016/j.dnarep.2020.102860. Epub 2020 Apr 27. DNA Repair (Amst). 2020. PMID: 32739133 Free PMC article. Review.
UV-damaged DNA binding protein (UV-DDB) is a heterodimeric complex, composed of DDB1 and DDB2, and is involved in global genome nucleotide excision repair. Mutations in DDB2 are associated with xeroderma pigmentosum complementation group E. UV-DDB form …
UV-damaged DNA binding protein (UV-DDB) is a heterodimeric complex, composed of DDB1 and DDB2, and is involved in global genome nucleotide e …
Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy.
Magnaldo T, Sarasin A. Magnaldo T, et al. Cells Tissues Organs. 2004;177(3):189-98. doi: 10.1159/000079993. Cells Tissues Organs. 2004. PMID: 15388993 Review.
Xeroderma pigmentosum (XP) is a rare, recessively inherited genodermatosis prone to ultraviolet (UV)-induced skin neoplasms from keratinocyte origin, i.e. basal and squamous cell carcinoma. ...Encouraging results of retrovirus-based genetic correction of XP k …
Xeroderma pigmentosum (XP) is a rare, recessively inherited genodermatosis prone to ultraviolet (UV)-induced skin neoplasms fr …
Association between XPF polymorphisms and cancer risk: a meta-analysis.
Shi TY, He J, Qiu LX, Zhu ML, Wang MY, Zhou XY, Han J, Yu H, Zang RY, Wei Q. Shi TY, et al. PLoS One. 2012;7(7):e38606. doi: 10.1371/journal.pone.0038606. Epub 2012 Jul 2. PLoS One. 2012. PMID: 22768293 Free PMC article. Review.
BACKGROUND: Xeroderma pigmentosum complementation group F (XPF or ERCC4) plays a key role in DNA repair that protects against genetic instability and carcinogenesis. ...METHODOLOGY/PRINCIPAL FINDINGS: In this meta-analysis of 47,639 cancer cases and 51,915 co …
BACKGROUND: Xeroderma pigmentosum complementation group F (XPF or ERCC4) plays a key role in DNA repair that protects a …
Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F.
Kondo S, Mamada A, Miyamoto C, Keong CH, Satoh Y, Fujiwara Y. Kondo S, et al. Photodermatol. 1989 Apr;6(2):89-95. Photodermatol. 1989. PMID: 2664729 Review.
Sib patients with xeroderma pigmentosum (XP), XP90TO (42 years old, male) and XP92TO (40 years old, female, were assigned to group F by the complementation analysis in hybridized heterodikaryons. ...In addition, we have collected clinical information from Jap …
Sib patients with xeroderma pigmentosum (XP), XP90TO (42 years old, male) and XP92TO (40 years old, female, were assigned to …
27 results