ArticleThe Journal of clinical investigation1999
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.
Article in The Journal of clinical investigation, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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.
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Who cites it
22 citing papers in PubMed, 74 citations in OpenAlex.
- Stairways to Advanced Therapies for Epidermolysis Bullosa.Cold Spring Harbor perspectives in biology · 2023Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- Revertant Mosaicism in Epidermolysis Bullosa.Biomedicines · 2022Review
- A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.PloS one · 2018Article
- Revertant mosaicism in genodermatoses.Cellular and molecular life sciences : CMLS · 2017Review
- Laser capture microdissection: Big data from small samples.Histology and histopathology · 2015Review
- Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.The Journal of investigative dermatology · 2014Article
- Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.PLoS genetics · 2014Article
- Revertant mosaicism in skin: natural gene therapy.Trends in molecular medicine · 2011Review
- Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10.Science (New York, N.Y.) · 2010Article
- The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006.Journal of clinical immunology · 2007Article
- Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.The Journal of clinical investigation · 2007Article
- Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.American journal of human genetics · 2005Article
- Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.Human genetics · 2004Article
- In vivo reversion to normal of inherited mutations in humans.Journal of medical genetics · 2003Review
- Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.The Journal of clinical investigation · 2003Article
- Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Genetic mosaic analysis based on Cre recombinase and navigated laser capture microdissection.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Laser capture microdissection in pathology.Journal of clinical pathology · 2000Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blistering disease typified by null mutations in COL17A1. In 1 large kindred, affected individuals were homozygous for a 2-bp deletion in COL17A1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA decay, and abrogation of type XVII collagen synthesis. Interestingly, 1 of these patients, although phenotypically identical to her affected siblings, showed focal expression of type XVII collagen in epidermal basement membrane in a pattern suggestive of revertant mosaicism. When studies of randomly obtained epidermal, oromucosal, and peripheral blood cells failed to identify the genetic basis of this apparent mosaicism, microscopic subpopulations of potentially revertant epidermal cells (i.e., those overlying basement membrane containing type XVII collagen) were selectively isolated using laser capture microdissection. Analysis of DNA and RNA from these cells revealed a second mutation, 4080insGG, on 1 allele of COL17A1. This 2-bp insertion corrected the reading frame just proximal to the premature termination codon, countered nonsense-mediated mRNA decay, and allowed protein production by patient keratinocytes in vivo and in vitro. These studies elucidate the molecular basis of a novel form of revertant mosaicism in humans.
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