Associated Papers
Supplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses.
Chikhaoui A et al.
Aging, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Chikhaoui A et al.
Orphanet Journal of Rare Diseases, 2022
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Zayoud K et al.
Genes, 2021
Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome.
Mohammadi-Asl J et al.
Annals of Human Genetics, 2018
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
Wang X et al.
Scientific Reports, 2017
Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.
Gu Y et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
Saijo M
Mechanisms of Ageing and Development, 0
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