ReviewJournal of medical genetics2003
In vivo reversion to normal of inherited mutations in humans.
Review in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
75 citing papers in PubMed, 182 citations in OpenAlex.
- Challenging interpretation of low-level PTCH1 mosaicism in patients with clinically diagnosed Gorlin syndrome: a case series and review of the literature.Hereditary cancer in clinical practice · 2026Article
- Building the brain mosaic: an expanded view.Trends in genetics : TIG · 2024Review
- Tissue mosaicism following stem cell aging: blood as an exemplar.Nature aging · 2024Review
- Germline loss-of-functionmedRxiv : the preprint server for health sciences · 2023Article
- Germline loss-of-functionFrontiers in endocrinology · 2023Article
- Systematic errors in annotations of truncations, loss-of-function and synonymous variants.Frontiers in genetics · 2023Article
- Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.Biomedicines · 2022Review
- Individual Genetic Heterogeneity.Genes · 2022Review
- Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing.PLoS genetics · 2022Article
- Mutation or not, what directly establishes a neoplastic state, namely cellular immortality and autonomy, still remains unknown and should be prioritized in our research.Journal of Cancer · 2022Review
- Somatic Reversion of a NovelGenes · 2021Article
- Mechanisms of somatic transformation in inherited bone marrow failure syndromes.Hematology. American Society of Hematology. Education Program · 2021Review
- Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.Breast cancer (Tokyo, Japan) · 2021Article
- Mosaicism in Human Health and Disease.Annual review of genetics · 2020Review
- Deep phylogeny of cancer drivers and compensatory mutations.Communications biology · 2020Article
- 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
- Evidence for immortality and autonomy in animal cancer models is often not provided, which causes confusion on key issues of cancer biology.Journal of Cancer · 2020Review
- Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.Molecular cytogenetics · 2020Article
- Molecular Trajectory ofFrontiers in oncology · 2020Review
- Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?Molecular genetics & genomic medicine · 2019Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There are increasing reports of multiple different types of somatic mosaicism detected in patients with inherited and non-inherited disorders. The characteristics of several of the major types of mosaicism will be outlined, and contrasted with somatic mosaicism, which is the focus of this article. This review examines examples of somatic mosaicism due to differences in DNA sequence arising from in vivo site specific reversion to normal of inherited mutations in humans. While several known mechanisms of reversion are evident in a number of these examples, they are not in some others. The possible significance of the role of selection, particularly in view of recent results of gene therapy, is discussed.
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Registered trials
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.