Associated Papers
Suppressor tRNAs as personalized therapy for nonsense mutation-associated pathologies.
Ignatova Z et al.
Pharmacology & Therapeutics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
An unusual presentation of Huntington's disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature.
De Cleene N et al.
Clinical Parkinsonism & Related Disorders, 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
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
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H et al.
Brain : a Journal of Neurology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Cordts I et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
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
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
HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis.
Riemslagh FW et al.
Acta Neuropathologica Communications, 2019
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation.
Salomão RPA et al.
Practical Neurology, 2018
Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers.
Elliott K et al.
Plos Genetics, 2018
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018
Genetics and genomic medicine in Tunisia.
Elloumi-Zghal H et al.
Molecular Genetics & Genomic Medicine, 2018
Transcriptional consequences of XPA disruption in human cell lines.
Manandhar M et al.
Dna Repair, 2017
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
Zhang J et al.
Photodermatology, Photoimmunology & Photomedicine, 2017
XPA: A key scaffold for human nucleotide excision repair.
Sugitani N et al.
Dna Repair, 2016
Modeling xeroderma pigmentosum associated neurological pathologies with patients-derived iPSCs.
Fu L et al.
Protein & Cell, 2016
Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.
Santiago KM et al.
International Journal of Molecular Sciences, 2015
Therapeutics based on stop codon readthrough.
Keeling KM et al.
Annual Review of Genomics and Human Genetics, 2014
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
The NER proteins XPC and CSB, but not ERCC1, regulate the sensitivity to the novel DNA binder S23906: implications for recognition and repair of antitumor alkylators.
Rocca CJ et al.
Biochemical Pharmacology, 2010