Associated Papers
A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.
van den Heuvel A et al.
The Journal of Investigative Dermatology, 2025
Molecular architecture and functional dynamics of the pre-incision complex in nucleotide excision repair.
Yu J et al.
Nature Communications, 2024
Protein-protein interactions in the core nucleotide excision repair pathway.
D'Souza A et al.
Dna Repair, 2024
A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.
van den Heuvel D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
An Active Learning Framework Improves Tumor Variant Interpretation.
Blee AM et al.
Cancer Research, 2022
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.
Zádori D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.
Slavin TP et al.
Familial Cancer, 2018
XPA: A key scaffold for human nucleotide excision repair.
Sugitani N et al.
Dna Repair, 2016
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O et al.
Archives of Dermatological Research, 2012
XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms.
Takahashi Y et al.
The Journal of Investigative Dermatology, 2010
XP-A cells complemented with Arg228Gln and Val234Leu polymorphic XPA alleles repair BPDE-induced DNA damage better than cells complemented with the wild type allele.
Porter PC et al.
Dna Repair, 2005
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
Mutational analysis of a function of xeroderma pigmentosum group A (XPA) protein in strand-specific DNA repair.
Kobayashi T et al.
Nucleic Acids Research, 1998
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
States JC et al.
Human Mutation, 1998
Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.
Feltes BC
Mutation Research. Reviews in Mutation Research, 0