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
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
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H et al.
Brain : a Journal of Neurology, 2023
First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation.
Khalat N et al.
Molecular Genetics & Genomic Medicine, 2023
The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.
Sarasin A
Cancers, 2023
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA et al.
Nature Communications, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Genetic and chemotherapeutic influences on germline hypermutation.
Kaplanis J et al.
Nature, 2022
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.
Nikolaev S et al.
Orphanet Journal of Rare Diseases, 2022
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
PPRC1, but not PGC-1α, levels directly correlate with expression of mitochondrial proteins in human dermal fibroblasts.
Mori MP et al.
Genetics and Molecular Biology, 2020
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C.
Hadj-Rabia S et al.
The British Journal of Dermatology, 2013
Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.
Ben Rekaya M et al.
Biomed Research International, 2013
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
Soufir N et al.
The Journal of Investigative Dermatology, 2010
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