ArticleScience (New York, N.Y.)2010
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.
Article in Science (New York, N.Y.), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
80 citing papers in PubMed, 196 citations in OpenAlex.
- Nuclear condensates formed by truncated mutant NEK1s impede ribosomal RNA biogenesis and drive motor dysfunction.Nature communications · 2026Article
- The Role of RCM and LC-OCT in Genodermatoses Associated with Skin Cancer: A Narrative Review.Acta dermato-venereologica · 2026Review
- Megabase-scale loss of heterozygosity provoked by CRISPR-Cas9 DNA double-strand breaks.Molecular cell · 2025Article
- Epithelial competition determines gene therapy potential to suppress Fanconi Anemia oral cancer risk.PLoS computational biology · 2025Article
- The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.Acta dermato-venereologica · 2025Article
- Epithelial competition determines gene therapy potential to suppress Fanconi Anemia oral cancer risk.bioRxiv : the preprint server for biology · 2025Article
- Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.Blood advances · 2024Article
- How Efforts to Understand Somatic Mosaicism Will Impact Dermatology.The Journal of investigative dermatology · 2024Article
- Nuclear roles for non-lamin intermediate filament proteins.Current opinion in cell biology · 2024Review
- Most large structural variants in cancer genomes can be detected without long reads.Nature genetics · 2023Article
- Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.Pediatric investigation · 2023Article
- Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation inJAAD case reports · 2023Article
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- New developments in the molecular treatment of ichthyosis: review of the literature.Orphanet journal of rare diseases · 2022Review
- Simultaneous brain cell type and lineage determined by scRNA-seq reveals stereotyped cortical development.Cell systems · 2022Article
- Clinical significance and mechanisms associated with segmental UPD.Molecular cytogenetics · 2021Article
- Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism.American journal of human genetics · 2021Article
- A six-attribute classification of genetic mosaicism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Stem Cell DNA Damage and Genome Mutation in the Context of Aging and Cancer Initiation.Cold Spring Harbor perspectives in biology · 2020Review
- POLQ suppresses interhomolog recombination and loss of heterozygosity at targeted DNA breaks.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
20 more citing papers are in PubMed but not listed here.
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13 authors at 4 institutions in 1 country.
Funding
Abstract
Somatic loss of wild-type alleles can produce disease traits such as neoplasia. Conversely, somatic loss of disease-causing mutations can revert phenotypes; however, these events are infrequently observed. Here we show that ichthyosis with confetti, a severe, sporadic skin disease in humans, is associated with thousands of revertant clones of normal skin that arise from loss of heterozygosity on chromosome 17q via mitotic recombination. This allowed us to map and identify disease-causing mutations in the gene encoding keratin 10 (KRT10); all result in frameshifts into the same alternative reading frame, producing an arginine-rich C-terminal peptide that redirects keratin 10 from the cytokeratin filament network to the nucleolus. The high frequency of somatic reversion in ichthyosis with confetti suggests that revertant stem cell clones are under strong positive selection and/or that the rate of mitotic recombination is elevated in individuals with this disorder.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.