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Quoted phrase not found in phrase index: "Cockayne syndrome type 2"
Page 1
Reactive Species in Progeroid Syndromes and Aging-Related Processes.
Crochemore C, Cimmaruta C, Fernández-Molina C, Ricchetti M. Crochemore C, et al. Antioxid Redox Signal. 2022 Jul;37(1-3):208-228. doi: 10.1089/ars.2020.8242. Epub 2022 Jan 4. Antioxid Redox Signal. 2022. PMID: 34428933 Review.
We discuss how notions arising from the study of the underlying mechanisms of a progeroid disease, Cockayne syndrome, represent a paradigm shift that may shed a new light in understanding the role of reactive species in age-related degenerative processes. ...
We discuss how notions arising from the study of the underlying mechanisms of a progeroid disease, Cockayne syndrome, represen …
Molecular regulation of UV-induced DNA repair.
Shah P, He YY. Shah P, et al. Photochem Photobiol. 2015 Mar-Apr;91(2):254-64. doi: 10.1111/php.12406. Epub 2015 Jan 14. Photochem Photobiol. 2015. PMID: 25534312 Free PMC article. Review.
Genetic loss of nucleotide excision repair leads to severe disorders, namely, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS), which are associated with predisposition to skin carcinogenesis at a young age as well as developmental an …
Genetic loss of nucleotide excision repair leads to severe disorders, namely, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and C …
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, c …
The role of CSA and CSB protein in the oxidative stress response.
D'Errico M, Pascucci B, Iorio E, Van Houten B, Dogliotti E. D'Errico M, et al. Mech Ageing Dev. 2013 May-Jun;134(5-6):261-9. doi: 10.1016/j.mad.2013.03.006. Epub 2013 Apr 3. Mech Ageing Dev. 2013. PMID: 23562424 Review.
Cockayne syndrome (CS) is a rare hereditary disorder in which infants suffer severe developmental and neurological alterations and early death. Two genes encoding RNA polymerase II cofactors, CSA and CSB, are mutated in this syndrome. CSA and CSB proteins are …
Cockayne syndrome (CS) is a rare hereditary disorder in which infants suffer severe developmental and neurological alterations …
Renal disease in Cockayne syndrome.
Stern-Delfils A, Spitz MA, Durand M, Obringer C, Calmels N, Olagne J, Pillay K, Fieggen K, Laugel V, Zaloszyc A. Stern-Delfils A, et al. Eur J Med Genet. 2020 Jan;63(1):103612. doi: 10.1016/j.ejmg.2019.01.002. Epub 2019 Jan 7. Eur J Med Genet. 2020. PMID: 30630117
BACKGROUND: Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental delay, microcephaly, severe growth failure and sensorial impairment. ...No correlation with the genetic background or clinical types of C …
BACKGROUND: Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental dela …
Progeroid syndromes and UV-induced oxidative DNA damage.
Kamenisch Y, Berneburg M. Kamenisch Y, et al. J Investig Dermatol Symp Proc. 2009 Aug;14(1):8-14. doi: 10.1038/jidsymp.2009.6. J Investig Dermatol Symp Proc. 2009. PMID: 19675546 Free article. Review.
Progeroid syndromes are a group of diseases characterized by signs of premature aging. These syndromes comprise diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford syndrome, Fanconi anemia, and ataxia-telangi …
Progeroid syndromes are a group of diseases characterized by signs of premature aging. These syndromes comprise diseases such as Werner s …
Sources and consequences of oxidative damage from mitochondria and neurotransmitter signaling.
Brennan-Minnella AM, Arron ST, Chou KM, Cunningham E, Cleaver JE. Brennan-Minnella AM, et al. Environ Mol Mutagen. 2016 Jun;57(5):322-30. doi: 10.1002/em.21995. Epub 2016 Jan 14. Environ Mol Mutagen. 2016. PMID: 27311994 Review.
The damage recognition mechanisms of nucleotide excision repair, epitomized by xeroderma pigmentosum (XP), and Cockayne syndrome (CS), lie at these extremes. Patients with mutations in the DDB2 and XPC damage recognition steps of global genome repair exhibit almost …
The damage recognition mechanisms of nucleotide excision repair, epitomized by xeroderma pigmentosum (XP), and Cockayne syndrome …
Molecular mechanisms of skin aging: state of the art.
Makrantonaki E, Zouboulis CC. Makrantonaki E, et al. Ann N Y Acad Sci. 2007 Nov;1119:40-50. doi: 10.1196/annals.1404.027. Ann N Y Acad Sci. 2007. PMID: 18056953 Review.
Recent data obtained by expression-profiling studies and studies of progeroid syndromes (e.g., Hutchinson-Gilford progeria, Werner syndrome, Rothmund-Thomson syndrome, Cockayne syndrome, ataxia teleangiectasia, and Down syndrome) illustrate that …
Recent data obtained by expression-profiling studies and studies of progeroid syndromes (e.g., Hutchinson-Gilford progeria, Werner syndro …
Coupling between nucleotide excision repair and gene expression.
Cambindo Botto AE, Muñoz JC, Muñoz MJ. Cambindo Botto AE, et al. RNA Biol. 2018;15(7):845-848. doi: 10.1080/15476286.2018.1464354. Epub 2018 May 17. RNA Biol. 2018. PMID: 29683386 Free PMC article. Review.
Since NER-dependent repair is compromised in Xeroderma Pigmentosum (XP) patients, and having in mind that these patients present a high degree of clinical heterogeneity, we speculate that some of the clinical features of XP patients can be explained by misregulation …
Since NER-dependent repair is compromised in Xeroderma Pigmentosum (XP) patients, and having in mind that these patients present a high degr …
Role of DNA damage in cardiovascular disease.
Ishida T, Ishida M, Tashiro S, Yoshizumi M, Kihara Y. Ishida T, et al. Circ J. 2014;78(1):42-50. doi: 10.1253/circj.cj-13-1194. Epub 2013 Dec 12. Circ J. 2014. PMID: 24334614 Free article. Review.
Patients with some progeroid syndromes, such as Werner syndrome, exhibit atherosclerotic cardiovascular disease (CVD) at a young age as a manifestation of premature aging. ...
Patients with some progeroid syndromes, such as Werner syndrome, exhibit atherosclerotic cardiovascular disease (CVD) at a young age …
108 results