Associated Papers
CRISPR/Cas9-mediated editing of XPA in induced pluripotent stem cells: A model for investigating Xeroderma Pigmentosum and NER dysfunction.
Papadopoulou M et al.
Stem Cell Research, 2025
Molecular architecture and functional dynamics of the pre-incision complex in nucleotide excision repair.
Yu J et al.
Nature Communications, 2024
39353945 (PubMed )
Supplement: 41467_2024_52860_MOESM1_ESM.pdf
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
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
31478152 (PubMed )
Supplement: 10072_2019_4044_MOESM1_ESM.pdf
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
XPA: A key scaffold for human nucleotide excision repair.
Sugitani N et al.
Dna Repair, 2016
Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum.
Sehgal M et al.
Gene, 2014
Exploration of structural stability in deleterious nsSNPs of the XPA gene: A molecular dynamics approach.
Nagasundaram N et al.
Journal of Carcinogenesis, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Molecular basis of inherited diseases: a structural perspective.
Steward RE et al.
Trends in Genetics : Tig, 2003
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE et al.
Human Mutation, 1999
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
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