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
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 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
Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A.
Widyastuti HP et al.
Stem Cell Research, 2024
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
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?
Bahap Y et al.
Molecular Syndromology, 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
First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP-C founder mutation.
Khalat N et al.
Molecular Genetics & Genomic Medicine, 2023
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.
Yurchenko AA et al.
Nature Communications, 2023
A disease-associated XPA allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.
van den Heuvel D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Nair NU et al.
Cell Reports. Medicine, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
Kohaar I et al.
Nature Communications, 2022
Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.
Taieb A et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A.
García-Carmona JA et al.
Frontiers in Genetics, 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Genetics and genomic medicine in Tunisia.
Elloumi-Zghal H et al.
Molecular Genetics & Genomic Medicine, 2018
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
Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates.
Sugitani N et al.
The Journal of Biological Chemistry, 2017
Xeroderma pigmentosum clinical practice guidelines.
Moriwaki S et al.
The Journal of Dermatology, 2017
XPA: A key scaffold for human nucleotide excision repair.
Sugitani N et al.
Dna Repair, 2016
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
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
Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
Bensenouci S et al.
Biomed Research International, 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
Consanguinity and genetic diseases in North Africa and immigrants to Europe.
Anwar WA et al.
European Journal of Public Health, 2014
Clinical utility gene card for: Xeroderma pigmentosum.
Schubert S et al.
European Journal of Human Genetics : Ejhg, 2014
Hereditary Disorders with Defective Repair of UV-Induced DNA Damage.
Moriwaki S
Japanese Clinical Medicine, 2013
The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.
Messaoud O et al.
Public Health Genomics, 2013
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
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
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
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
Soufir N et al.
The Journal of Investigative Dermatology, 2010
Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.
Messaoud O et al.
International Journal of Dermatology, 2010
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.
Messaoud O et al.
The British Journal of Dermatology, 2010
Neurological symptoms and natural course of xeroderma pigmentosum.
Anttinen A et al.
Brain : a Journal of Neurology, 2008
[A whole family affected by xeroderma pigmentosum: clinical and genetic particularities].
Zghal M et al.
Annales De Dermatologie Et De Venereologie, 2003