Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease
about
Photosensitive human syndromesCell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiencyNucleotide excision repair in humansDNA repair diseases: What do they tell us about cancer and aging?The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesisA novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotypeERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease.Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria.Cellular sensitivity to UV-irradiation is mediated by RNA polymerase I transcription.Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchronyThe Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.A ubiquitylation site in Cockayne syndrome B required for repair of oxidative DNA damage, but not for transcription-coupled nucleotide excision repairPharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation.Regulation of Transcription Elongation by the XPG-TFIIH Complex Is Implicated in Cockayne Syndrome.Cockayne syndrome: Clinical features, model systems and pathways.Transcription-coupled repair: an update.MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.Nucleotide Excision Repair: From Neurodegeneration to Cancer.The Cellular Response to Transcription-Blocking DNA Damage.
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Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease
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2013 nî lūn-bûn
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2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2013 թվականի մայիսին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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Blinded by the UV light: how t ...... ne syndrome neurologic disease
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P J Brooks
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10.1016/J.DNAREP.2013.04.018
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2013-05-16T00:00:00Z