Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Mechanisms of transcription-coupled repair and DNA damage surveillance in health and disease.
van Sluis M et al.
Nature Reviews. Molecular Cell Biology, 2025
Transcription-coupled repair: tangled up in convoluted repair.
Llerena Schiffmacher DA et al.
The Febs Journal, 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.
Hozhabrpour A et al.
Dna Repair, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
A Homozygous Nonsense Variant in UVSSA Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran.
Ahmadi Shadmehri A et al.
Advanced Biomedical Research, 2023
Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants.
Duong NT et al.
Aging, 2022
Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.
Zhang D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
FACT subunit Spt16 controls UVSSA recruitment to lesion-stalled RNA Pol II and stimulates TC-NER.
Wienholz F et al.
Nucleic Acids Research, 2019
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
UVSSA and USP7, a new couple in transcription-coupled DNA repair.
Schwertman P et al.
Chromosoma, 2013
KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR).
Fei J et al.
The Journal of Biological Chemistry, 2012
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
From laboratory tests to functional characterisation of Cockayne syndrome.
Lanzafame M et al.
Mechanisms of Ageing and Development, 0
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
Saijo M
Mechanisms of Ageing and Development, 0
Multiple interaction partners for Cockayne syndrome proteins: implications for genome and transcriptome maintenance.
Aamann MD et al.
Mechanisms of Ageing and Development, 0