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
41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Genetic susceptibility in early-onset melanoma: An observational Greek cohort study.
Chatziioannou E et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
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
38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1
Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding ERCC6 Gene in a Taiwanese Boy with Cockayne Syndrome.
Lin CM et al.
Life (basel, Switzerland), 2021
Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient.
Zhang Q et al.
The Journal of International Medical Research, 2020
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
[Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].
Zhou Z et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.
Newman JC et al.
Plos Genetics, 2008
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery DL et al.
American Journal of Human Genetics, 1998
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