Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.
Yamaguchi T et al.
Japanese Journal of Clinical Oncology, 2025
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
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
Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.
Sagun JP et al.
Plos 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
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA et al.
Nature Communications, 2023
Clinical Reasoning: A 60-Year-Old Man With Ataxia, Chorea, and Mild Cognitive Impairment.
Sugiyama A et al.
Neurology, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Seo GH et al.
Clinical Genetics, 2020
Progressive length-dependent polyneuropathy in xeroderma pigmentosum group A.
Tsuji Y et al.
Muscle & Nerve, 2020
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
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Novel therapeutic approaches to xeroderma pigmentosum.
Weon JL et al.
The British Journal of Dermatology, 2019
Autopsy findings and clinical features of a mild-type xeroderma pigmentosum complementation group A siblings: 40 years of follow-up.
Masaki T et al.
Jaad Case Reports, 2019
Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.
Kindil Z et al.
Bmc Research Notes, 2017
Quantitative analysis of brain atrophy in patients with xeroderma pigmentosum group A carrying the founder mutation in Japan.
Ueda T et al.
Journal of the Neurological Sciences, 2017
Xeroderma pigmentosum clinical practice guidelines.
Moriwaki S et al.
The Journal of Dermatology, 2017
An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.
Takahashi Y et al.
The British Journal of Dermatology, 2017
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
Zhou EY et al.
The Journal of Dermatology, 2017
Hearing Dysfunction in Xpa-Deficient Mice.
Shinomiya H et al.
Frontiers in Aging Neuroscience, 2017
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
Sethi M et al.
The Journal of Investigative Dermatology, 2016
Human DNA repair disorders in dermatology: A historical perspective, current concepts and new insight.
Moriwaki S
Journal of Dermatological Science, 2016
A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.
Lehmann J et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
Sun Z et al.
The British Journal of Dermatology, 2015
Ancient origin of a Japanese xeroderma pigmentosum founder mutation.
Imoto K et al.
Journal of Dermatological Science, 2013
Hereditary Disorders with Defective Repair of UV-Induced DNA Damage.
Moriwaki S
Japanese Clinical Medicine, 2013
Prenatal diagnosis of xeroderma pigmentosum group A in Japan.
Moriwaki S et al.
The Journal of Dermatology, 2012
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
Neuroimaging features of xeroderma pigmentosum group A.
Ueda T et al.
Brain and Behavior, 2012
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005