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Diagnostic and severity scores for Cockayne syndrome.
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V. Spitz MA, et al. Orphanet J Rare Dis. 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. Orphanet J Rare Dis. 2021. PMID: 33536051 Free PMC article.
BACKGROUND: Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. ...Based on similar approaches in other neurodegenerative disorders, we propose to validate diagnostic and severity scores for Coc …
BACKGROUND: Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. …
Aldehyde-Associated Mutagenesis─Current State of Knowledge.
Vijayraghavan S, Saini N. Vijayraghavan S, et al. Chem Res Toxicol. 2023 Jul 17;36(7):983-1001. doi: 10.1021/acs.chemrestox.3c00045. Epub 2023 Jun 26. Chem Res Toxicol. 2023. PMID: 37363863 Free PMC article. Review.
The toxic effects of exposure to several aldehydes have been observed in numerous studies. At the molecular level, aldehydes damage DNA, cross-link DNA and proteins, lead to lipid peroxidation, and are associated with increased disease risk including cancer. People genetic …
The toxic effects of exposure to several aldehydes have been observed in numerous studies. At the molecular level, aldehydes damage D …
Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis.
Kubota M, Ohta S, Ando A, Koyama A, Terashima H, Kashii H, Hoshino H, Sugita K, Hayashi M. Kubota M, et al. Pediatr Int. 2015 Jun;57(3):339-47. doi: 10.1111/ped.12635. Pediatr Int. 2015. PMID: 25851792 Review.
In the first nationwide survey of Cockayne syndrome (CS) in Japan, the incidence of CS was estimated to be 2.77 per million births (95%CI: 2.19-3.11) and the prevalence was approximately 1 in 2,500,000. ...In the 41 CS type 1 patients, seven findings (i.e. failure t …
In the first nationwide survey of Cockayne syndrome (CS) in Japan, the incidence of CS was estimated to be 2.77 per million bi …
Current and emerging roles of Cockayne syndrome group B (CSB) protein.
Tiwari V, Baptiste BA, Okur MN, Bohr VA. Tiwari V, et al. Nucleic Acids Res. 2021 Mar 18;49(5):2418-2434. doi: 10.1093/nar/gkab085. Nucleic Acids Res. 2021. PMID: 33590097 Free PMC article. Review.
Cockayne syndrome (CS) is a segmental premature aging syndrome caused primarily by defects in the CSA or CSB genes. ...Defects in the CSB gene were initially thought to primarily impair transcription-coupled nucleotide excision repair (TC-NER), predicting a r …
Cockayne syndrome (CS) is a segmental premature aging syndrome caused primarily by defects in the CSA or CSB genes. ...Defects …
Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome.
Crochemore C, Chica C, Garagnani P, Lattanzi G, Horvath S, Sarasin A, Franceschi C, Bacalini MG, Ricchetti M. Crochemore C, et al. Aging Cell. 2023 Oct;22(10):e13959. doi: 10.1111/acel.13959. Epub 2023 Sep 8. Aging Cell. 2023. PMID: 37688320 Free PMC article.
Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS) are rare genetic disorders caused by mutation of the DNA repair and multifunctional CSA or CSB protein, but only CS patients display a progeroid and neurodegenerative phenotype, providing a unique conceptual an …
Cockayne syndrome (CS) and UV-sensitive syndrome (UVSS) are rare genetic disorders caused by mutation of the DNA repair and mu …
Conceptual developments in the causes of Cockayne syndrome.
Cleaver JE, Bezrookove V, Revet I, Huang EJ. Cleaver JE, et al. Mech Ageing Dev. 2013 May-Jun;134(5-6):284-90. doi: 10.1016/j.mad.2013.02.005. Epub 2013 Feb 18. Mech Ageing Dev. 2013. PMID: 23428417 Review.
Conceivably each of these mechanisms participates during a different stage in life of a Cockayne syndrome patient. Endogenous reactive oxygen is considered as an ultimate cause of DNA damage that contributes to Cockayne syndrome pathology. Here we demo …
Conceivably each of these mechanisms participates during a different stage in life of a Cockayne syndrome patient. Endogenous …
Peripheral neuropathies associated with DNA repair disorders.
Maguina M, Kang PB, Tsai AC, Pacak CA. Maguina M, et al. Muscle Nerve. 2023 Feb;67(2):101-110. doi: 10.1002/mus.27721. Epub 2022 Oct 3. Muscle Nerve. 2023. PMID: 36190439 Free PMC article. Review.
Chronic motor, sensory, and sensorimotor polyneuropathies have all been observed in affected individuals, with specific physiologies associated with different categories of DNA repair disorders. Cockayne syndrome has classically been linked to demyelinating p …
Chronic motor, sensory, and sensorimotor polyneuropathies have all been observed in affected individuals, with specific physiologies …
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.
Some of these diseases are xeroderma pigmentosum group A (XPA, caused by mutation of XPA), Cockayne syndrome group A and group B (CSA, CSB, and are caused by mutations of CSA and CSB, respectively), ataxia-telangiectasia (A-T, caused by mutation of ATM), and Werner …
Some of these diseases are xeroderma pigmentosum group A (XPA, caused by mutation of XPA), Cockayne syndrome group A and group …
Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation.
Okur MN, Lee JH, Osmani W, Kimura R, Demarest TG, Croteau DL, Bohr VA. Okur MN, et al. Nucleic Acids Res. 2020 Mar 18;48(5):2473-2485. doi: 10.1093/nar/gkz1242. Nucleic Acids Res. 2020. PMID: 31970402 Free PMC article.
Cockayne Syndrome (CS) is a rare neurodegenerative disease characterized by short stature, accelerated aging and short lifespan. ...Many clinical and molecular features of CS remain poorly understood, and it was observed that CSA and CSB regulate transcriptio …
Cockayne Syndrome (CS) is a rare neurodegenerative disease characterized by short stature, accelerated aging and short lifespa …
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN, Brosh RM Jr. Suhasini AN, et al. Mutat Res. 2013 Apr-Jun;752(2):138-152. doi: 10.1016/j.mrrev.2012.12.004. Epub 2012 Dec 28. Mutat Res. 2013. PMID: 23276657 Free PMC article. Review.
XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome, suggesting that DNA repair and transcription defects are responsible for clinical heterogeneity. Complex phenotypes are also observed for RECQL4 helicas …
XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome, suggesting that DNA …
196 results