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Xeroderma pigmentosum-Cockayne syndrome complex.
Natale V, Raquer H. Natale V, et al. Orphanet J Rare Dis. 2017 Apr 4;12(1):65. doi: 10.1186/s13023-017-0616-2. Orphanet J Rare Dis. 2017. PMID: 28376890 Free PMC article. Review.
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). ...There are four groups in XP-CS, and classification was available for 42 patients. Twenty-one were in the XP-G c
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730,
Xeroderma pigmentosum complementation group F: Report of a case and review of Japanese patients.
Tofuku Y, Nobeyama Y, Kamide R, Moriwaki S, Nakagawa H. Tofuku Y, et al. J Dermatol. 2015 Sep;42(9):897-9. doi: 10.1111/1346-8138.12942. Epub 2015 May 25. J Dermatol. 2015. PMID: 26010807 Review.
Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by extraordinary sensitivity to sunlight, resulting in cutaneous malignant tumors. Among XP, XP-F presents relatively uniquely in Japanese. To clarify the characteristics of t
Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by extraordinary sensitivity to sunlight,
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 …
XPC beyond nucleotide excision repair and skin cancers.
Zebian A, Shaito A, Mazurier F, Rezvani HR, Zibara K. Zebian A, et al. Mutat Res Rev Mutat Res. 2019 Oct-Dec;782:108286. doi: 10.1016/j.mrrev.2019.108286. Epub 2019 Jul 8. Mutat Res Rev Mutat Res. 2019. PMID: 31843141 Review.
Xeroderma pigmentosum group C (XPC) has been known as a DNA damage recognition factor of bulky adducts and as an initiator of global genome nucleotide excision repair (GG-NER). ...
Xeroderma pigmentosum group C (XPC) has been known as a DNA damage recognition factor of bulky adducts and as an initia
Control of structure-specific endonucleases to maintain genome stability.
Dehé PM, Gaillard PHL. Dehé PM, et al. Nat Rev Mol Cell Biol. 2017 May;18(5):315-330. doi: 10.1038/nrm.2016.177. Epub 2017 Mar 22. Nat Rev Mol Cell Biol. 2017. PMID: 28327556 Review.
In this Review, we discuss how SSEs are controlled as part of genome maintenance pathways in eukaryotes, with an emphasis on the elaborate mechanisms that regulate the members of the major SSE families - including the xeroderma pigmentosum group F-comp …
In this Review, we discuss how SSEs are controlled as part of genome maintenance pathways in eukaryotes, with an emphasis on the elaborate m …
Heterogeneity and overlaps in nucleotide excision repair disorders.
Ferri D, Orioli D, Botta E. Ferri D, et al. Clin Genet. 2020 Jan;97(1):12-24. doi: 10.1111/cge.13545. Epub 2019 Apr 22. Clin Genet. 2020. PMID: 30919937 Review.
Nucleotide excision repair (NER) is an essential DNA repair pathway devoted to the removal of bulky lesions such as photoproducts induced by the ultraviolet (UV) component of solar radiation. Deficiencies in NER typically result in a group of heterogeneous distinct disorde …
Nucleotide excision repair (NER) is an essential DNA repair pathway devoted to the removal of bulky lesions such as photoproducts induced by …
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
Molecular analysis directs the prognosis, management and treatment of patients with xeroderma pigmentosum.
Lehmann AR, Fassihi H. Lehmann AR, et al. DNA Repair (Amst). 2020 Sep;93:102907. doi: 10.1016/j.dnarep.2020.102907. DNA Repair (Amst). 2020. PMID: 33087273 Review.
Xeroderma pigmentosum (XP) is a well-studied disorder of (in most cases) nucleotide excision repair. ...Splicing mutations in XPA and XPD and a specific amino acid change in XPD are associated with mild phenotypes, and individuals assigned to the XP-F grou
Xeroderma pigmentosum (XP) is a well-studied disorder of (in most cases) nucleotide excision repair. ...Splicing mutations in
Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.
Gregg SQ, Robinson AR, Niedernhofer LJ. Gregg SQ, et al. DNA Repair (Amst). 2011 Jul 15;10(7):781-91. doi: 10.1016/j.dnarep.2011.04.026. Epub 2011 May 25. DNA Repair (Amst). 2011. PMID: 21612988 Free PMC article. Review.
ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some double-strand breaks. Mutations in ERCC1 or XPF cause xeroderma pigmentosum, XFE progeroid syndrome or cerebro-oculo-facio-sk …
ERCC1-XPF is a structure-specific endonuclease required for nucleotide excision repair, interstrand crosslink repair, and the repair of some …
33 results