Associated Papers
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
Successful treatment of non-melanoma skin cancer in three patients with Xeroderma Pigmentosum by modified ALA-PDT.
Zheng J et al.
Photodiagnosis and Photodynamic Therapy, 2023
In vivo application of base and prime editing to treat inherited retinal diseases.
Jo DH et al.
Progress in Retinal and Eye Research, 2023
Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.
Seo JI et al.
Medicina (kaunas, Lithuania), 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.
Rabie E et al.
Genes, 2021
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.
Aoude LG et al.
Scientific Reports, 2020
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Suppression of Nonsense Mutations by New Emerging Technologies.
Morais P et al.
International Journal of Molecular Sciences, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1.
Bidon B et al.
Nature Communications, 2018
A case of xeroderma pigmentosum complementation group C with diverse clinical features.
Masaki T et al.
The British Journal of Dermatology, 2018
Japanese case of xeroderma pigmentosum complementation group C with a novel mutation.
Tamesada Y et al.
The Journal of Dermatology, 2018
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
Doubaj Y et al.
Journal of Medical Case Reports, 2017
Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
Schäfer A et al.
Experimental Dermatology, 2013
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
Rivera-Begeman A et al.
Dna Repair, 2007
Validation of XP-C pathogenic variations in archival material from a live XP patient.
McDaniel LD et al.
Dna Repair, 2007
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Khan SG et al.
Carcinogenesis, 2006
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
Gozukara EM et al.
The Journal of Investigative Dermatology, 2001