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
Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.
Dri J et al.
Archivos Argentinos De Pediatria, 2025
Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.
Toriyama K et al.
The Journal of Pathology, 2025
40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-057-ip
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
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
Sorrentino U et al.
Clinical Genetics, 2023
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_TableS1.xlsx › Sheet_1
TTDA: big impact of a small protein.
Theil AF et al.
Experimental Cell Research, 2014
Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene.
Moriwaki S et al.
The Journal of Dermatology, 2014
In vivo interactions of TTDA mutant proteins within TFIIH.
Nonnekens J et al.
Journal of Cell Science, 2013
Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.
Theil AF et al.
Plos Genetics, 2013
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