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
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: Table1.XLSX › Sheet1
TFIIH central activity in nucleotide excision repair to prevent disease.
Theil AF et al.
Dna Repair, 2023
Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.
Yu J et al.
Nature Communications, 2023
37179334 (PubMed )
Supplement: 41467_2023_38416_MOESM3_ESM.pdf
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
Rossen JL et al.
Genes, 2023
36980880 (PubMed )
Supplement: genes-14-00608-s001.zip › genes-2190704-supplementary.pdf
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Lanzafame M et al.
Human Mutation, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3C
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 2021
34966786 (PubMed )
Supplement: Table4.XLSX › ERCC2
Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.
Yan C et al.
Nature Structural & Molecular Biology, 2019
31110295 (PubMed )
Supplement: NIHMS1525853-supplement-3.pdf
Analysis of mutations in the XPD gene in a patient with brittle hair.
Shin S et al.
Annals of Clinical and Laboratory Science, 2013
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