Associated Papers
Senescence, regulators of alternative splicing and effects of trametinib treatment in progeroid syndromes.
Bramwell LR et al.
Geroscience, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.
Gauhar Z et al.
Cells, 2022
Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability.
Cho S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A.
Pines A et al.
Nature Communications, 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
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
Xie H et al.
Scientific Reports, 2017
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Nardo T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.
Kleppa L et al.
Neuroscience, 2007
A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1.
Jin J et al.
Molecular Cell, 2006
Cockayne syndrome type A: novel mutations in eight typical patients.
Bertola DR et al.
Journal of Human Genetics, 2006
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
Ridley AJ et al.
Journal of Human Genetics, 2005
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.
Cao H et al.
Journal of Human Genetics, 2004
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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