Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
The role of Transcription Factor IIH complex in nucleotide excision repair.
Hoag A et al.
Environmental and Molecular Mutagenesis, 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
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
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
Lanzafame M et al.
Human Mutation, 2022
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
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Structural basis of TFIIH activation for nucleotide excision repair.
Kokic G et al.
Nature Communications, 2019
Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.
Yan C et al.
Nature Structural & Molecular Biology, 2019
Identification of Damaging nsSNVs in HumanERCC2 Gene.
Fang S et al.
Chemical Biology & Drug Design, 2016
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
Cleaver JE et al.
Nature Reviews. Genetics, 2009
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
Andressoo JO et al.
Cancer Cell, 2006
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.
Dubaele S et al.
Molecular Cell, 2003
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.
Botta E et al.
Human Molecular Genetics, 2002
Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
Itin PH et al.
Journal of the American Academy of Dermatology, 2001
A temperature-sensitive disorder in basal transcription and DNA repair in humans.
Vermeulen W et al.
Nature Genetics, 2001
Identification of ICR170-induced XPD mutations in UV-sensitive CHO cells.
Tebbs RS et al.
Environmental and Molecular Mutagenesis, 2001
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
Botta E et al.
American Journal of Human Genetics, 1998
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Taylor EM et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997