ArticleHuman mutation2018
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- Integrating bulk and single-cell transcriptomics to elucidate the role and potential mechanisms of autophagy in aging tissue.Cellular oncology (Dordrecht, Netherlands) · 2024Article
- Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.GeroScience · 2024Article
- XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes.Science advances · 2023Article
- Case report: Variants in theFrontiers in genetics · 2023Article
- XPF activates break-induced telomere synthesis.Nature communications · 2022Article
- Skin Conditions and Movement Disorders: Hiding in Plain Sight.Movement disorders clinical practice · 2022Review
- Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.Molecular genetics & genomic medicine · 2021Article
- Article
- The multifaceted roles of DNA repair and replication proteins in aging and obesity.DNA repair · 2021Review
- ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.The Journal of experimental medicine · 2021Article
- Case Report: Identification of Novel Variants inFrontiers in genetics · 2021Article
- Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A.Frontiers in genetics · 2021Article
- Genome-Wide Screen of the Hippocampus in Aged Rats Identifies Mitochondria, Metabolism and Aging Processes Implicated in Sevoflurane Anesthesia.Frontiers in aging neuroscience · 2020Article
- Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders.Genes · 2019Article
- Function and Interactions of ERCC1-XPF in DNA Damage Response.Molecules (Basel, Switzerland) · 2018Review
- CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.Molecular genetics & genomic medicine · 2018Article
- Dysregulation of DAF-16/FOXO3A-mediated stress responses accelerates oxidative DNA damage induced aging.Redox biology · 2018Article
- Comparison of Tumor- and Bone Marrow-Derived Mesenchymal Stromal/Stem Cells from Patients with High-Grade Osteosarcoma.International journal of molecular sciences · 2018Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
Abstract
Pathogenic variants in genes, which encode DNA repair and damage response proteins, result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with ERCC1 and is required for the 5' incision during nucleotide excision repair. ERCC4 is also FANCQ, illustrating a critical role in interstrand crosslink repair. Pathogenic variants in this gene cause xeroderma pigmentosum, XFE progeroid syndrome, Cockayne syndrome (CS), and Fanconi anemia. We performed massive parallel sequencing for 42 unsolved cases submitted to the International Registry of Werner Syndrome. Two cases, each carrying two novel heterozygous ERCC4 variants, were identified. The first case was a compound heterozygote for: c.2395C > T (p.Arg799Trp) and c.388+1164_792+795del (p.Gly130Aspfs*18). Further molecular and cellular studies indicated that the ERCC4 variants in this patient are responsible for a phenotype consistent with a variant of CS. The second case was heterozygous for two variants in cis: c.[1488A > T; c.2579C > A] (p.[Gln496His; Ala860Asp]). While the second case also had several phenotypic features of accelerated aging, we were unable to provide biological evidence supporting the pathogenic roles of the associated ERCC4 variants. Precise genetic causes and disease mechanism of the second case remains to be determined.
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Registered trials
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