Evidence map›Paper›PMID 28168442›Full record

ReviewCellular and molecular life sciences : CMLS2017

Revertant mosaicism in genodermatoses.

Young H Lim, Jonathan M Fisher, Keith A Choate

Abstract readReview
In one paragraph

Review in Cellular and molecular life sciences : CMLS, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.6field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 27 citations in OpenAlex.

  1. Review
  2. Understanding Human Epidermal Stem Cells at Single-Cell Resolution.The Journal of investigative dermatology · 2022
    Review
  3. Review
  4. Review
  5. Investigational Treatments for Epidermolysis Bullosa.American journal of clinical dermatology · 2021
    Review
  6. Article
  7. 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 · 2020
    Article
  8. Ichthyosis: A Road Model for Skin Research.Acta dermato-venereologica · 2020
    Review
  9. Article
  10. Review
  11. Article
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Young H LimDepartment of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA.
Jonathan M FisherDepartment of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA.
Keith A ChoateDepartment of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA. keith.choate@yale.edu.
Yale University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
Mechanisms of Revertant Mosaicism in Ichthyosis with ConfettiR01AR062111 · NIAMS · YALE UNIVERSITY · PI CHOATE, KEITH A · 2011 to 2023
$4.3M
NCATS NIH HHS UL1 TR001863NIAMS NIH HHS R01 AR062111NIGMS NIH HHS T32 GM007205
6 · The paper itself

Abstract

Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the skin is broadly involved throughout the affected individual's lifetime, but rarely, appearance of normal skin clones has been described. In these cases of revertant mosaicism, cells undergo spontaneous correction to ameliorate the effects of genetic mutation. While targeted reversion of genetic mutation would have tremendous therapeutic value, the mechanisms of reversion in the skin are poorly understood. In this review, we provide an overview of genodermatoses that demonstrate widespread reversion and their corrective mechanisms, as well as the current research aimed to understand this "natural gene therapy".

Indexed as

MosaicismEpidermisHumansKeratinsMutationPhenotypeSkin DiseasesKeratinsConfettiDNA repairEpidermolysis bullosaGenodermatosesReversionRevertant mosaicism

Identifiers

PMID28168442
PMCPMC5506545
OpenAlexW2587118780

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.