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
Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.
Ul Haq S et al.
Hgg Advances, 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.
Liu MH et al.
Biorxiv : the Preprint Server for Biology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas.
Yu G et al.
Cancers, 2021
Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.
Yan C et al.
Nature Communications, 2021
Structural basis of human transcription-DNA repair coupling.
Kokic G et al.
Nature, 2021
Current and emerging roles of Cockayne syndrome group B (CSB) protein.
Tiwari V et al.
Nucleic Acids Research, 2021
Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.
Tlemsani C et al.
Science Translational Medicine, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Poly(ADP-ribose) polymerase 1 (PARP1) promotes oxidative stress-induced association of Cockayne syndrome group B protein with chromatin.
Boetefuer EL et al.
The Journal of Biological Chemistry, 2018
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.
Chebly A et al.
Bmc Medical Genetics, 2018
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.
Kou Y et al.
Medicine, 2018
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Calmels N et al.
Journal of Medical Genetics, 2018
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
Shehata L et al.
American Journal of Medical Genetics. Part A, 2014
The sequence-specific transcription factor c-Jun targets Cockayne syndrome protein B to regulate transcription and chromatin structure.
Lake RJ et al.
Plos Genetics, 2014
Mammalian transcription-coupled excision repair.
Vermeulen W et al.
Cold Spring Harbor Perspectives in Biology, 2013
ATP-dependent chromatin remodeling by Cockayne syndrome protein B and NAP1-like histone chaperones is required for efficient transcription-coupled DNA repair.
Cho I et al.
Plos Genetics, 2013
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
Cleaver JE et al.
Nature Reviews. Genetics, 2009
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.
Newman JC et al.
Plos Genetics, 2008
Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress.
Tuo J et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2003
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery DL et al.
American Journal of Human Genetics, 1998
Structure, function and regulation of CSB: a multi-talented gymnast.
Lake RJ et al.
Mechanisms of Ageing and Development, 0
Cockayne syndrome: the expanding clinical and mutational spectrum.
Laugel V
Mechanisms of Ageing and Development, 0
Cockayne syndrome pathogenesis: lessons from mouse models.
Jaarsma D et al.
Mechanisms of Ageing and Development, 0