Associated Papers
Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.
Yamaguchi T et al.
Japanese Journal of Clinical Oncology, 2025
A Case of Xeroderma Pigmentosum Variant Type With a Novel Mutation Diagnosed in Early Childhood.
Okuwa M et al.
Photodermatology, Photoimmunology & Photomedicine, 2025
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
Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.
Senju C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Variant subtype of xeroderma pigmentosum with multiple basal cell carcinomas diagnosed in a Chinese woman.
Zhang N et al.
Photodermatology, Photoimmunology & Photomedicine, 2021
Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature.
Bang E et al.
Photodermatology, Photoimmunology & Photomedicine, 2020
Angiosarcoma arising on the scalp in a Korean patient with xeroderma pigmentosum variant type.
Hong WJ et al.
Photodermatology, Photoimmunology & Photomedicine, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Three school-age cases of xeroderma pigmentosum variant type.
Ono R et al.
Photodermatology, Photoimmunology & Photomedicine, 2013
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.
Liu X et al.
International Journal of Medical Sciences, 2013
Xeroderma pigmentosum variant: complementary molecular approaches to detect a 13 base pair deletion in the DNA polymerase eta gene.
Hentosh P et al.
Experimental and Molecular Pathology, 2011
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.
Masaki T et al.
Journal of Dermatological Science, 2008
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
Inui H et al.
The Journal of Investigative Dermatology, 2008
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.
Tanioka M et al.
The Journal of Investigative Dermatology, 2007
Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.
Feltes BC et al.
Mutation Research. Reviews in Mutation Research, 0