Evidence map›Paper›PMID 31753123›Full record

ArticleThe Journal of investigative dermatology2019

Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis.

Lihi Atzmony, Keith A Choate

Open access · greenAbstract readComment
In one paragraph

Article in The Journal of investigative dermatology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 2 pooled it
1.8field-weighted citation impact, top 14% 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, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  5. Porokeratoses-A Rare Group of Dermatoses.Medicina (Kaunas, Lithuania) · 2024
    Review
  6. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 2 countries.

Lihi AtzmonyDepartment of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Keith A ChoateDepartment of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address: Keith.choate@yale.edu.
Tel Aviv University · ILYale University · US

Funding

Genetics and Pathobiology of Cutaneous Mosaic DisordersR01AR071491 · NIAMS · YALE UNIVERSITY · PI KEITH A CHOATE · 2018 to 2026
$4.2M
NIAMS NIH HHS R01 AR071491
6 · The paper itself

Abstract

Familial and sporadic porokeratosis are associated with germline heterozygous mutations in mevalonate pathway genes. Kubo et al. show that each skin lesion of disseminated superficial actinic porokeratosis originates from a postnatal keratinocyte clone with a different second-hit genetic event in the wild-type allele of the corresponding gene. They also confirm that linear porokeratosis derives from a single prenatal clone of keratinocytes with a second-hit genetic event.

Indexed as

PorokeratosisHeterozygoteHumansKeratinocytesMevalonic AcidRecombination, GeneticMevalonic Acid

Identifiers

PMID31753123
PMCPMC7962864
OpenAlexW2988785396

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.