Evidence map›Paper›PMID 38099888›Full record

ReviewThe Journal of investigative dermatology2024

Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.

Edel A O'Toole, David P Kelsell, Michael J Caterina, Marianne de Brito, David Hansen, Robyn P Hickerson, Alain Hovnanian, Roger Kaspar, E Birgitte Lane, Amy S Paller and 6 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in The Journal of investigative dermatology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. [Genetic diseases with skin fragility in children].Dermatologie (Heidelberg, Germany) · 2024
    Review
  3. 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

16 authors.

Edel A O'TooleCentre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom.
David P KelsellCentre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Michael J CaterinaDepartment of Neurosurgery, Neurosurgery Pain Research Institute, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; Department of Biological Chemistry, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Marianne de BritoCentre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
David HansenDepartment of Dermatology, School of Medicine, University of Utah, Salt Lake City, Utah, USA.
Robyn P HickersonDivision of Biological Chemistry and Drug Discovery, University of Dundee, Dundee, United Kingdom.
Alain HovnanianINSERM UMR 1163, Laboratory of genetic skin diseases, Institut Imagine, Université Paris Cité, Paris, France; Department of Genomic Medicine of Rare Diseases, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Roger KasparAyni Therapeutics, Santa Cruz, California, USA.
E Birgitte LaneA∗STAR Skin Research Laboratories, Skin Research Institute of Singapore, Singapore, Singapore.
Amy S PallerDepartment of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Janice SchwartzPachyonychia Congenita Project, Salt Lake City, Utah, USA.
Braham ShrootPalvella Therapeutics, Wayne, Pennsylvania, USA.
Joyce TengPediatric Dermatology, Stanford University School of Medicine, Stanford, California, USA.
Matthias TiteuxINSERM UMR 1163, Laboratory of genetic skin diseases, Institut Imagine, Université Paris Cité, Paris, France.
Pierre A CoulombeDepartment of Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Eli SprecherDivision of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, School of Medicine, Tel-Aviv University, Tel Aviv, Israel. Electronic address: elisp@tlvmc.gov.il.

Funding

Role of keratin intermediate filaments in skin epithelial differentiation.R01AR079418 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COULOMBE, PIERRE · 2021 to 2025
$2.1M
Creating transgenic mouse models that genetically and phenotypically recapitulate pachyonychia congenitaR21AR083484 · NIAMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COULOMBE, PIERRE · 2024 to 2025
$358k
NIAMS NIH HHS R01 AR079418NIAMS NIH HHS R21 AR083484
6 · The paper itself

Abstract

Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.

Indexed as

Keratoderma, PalmoplantarPachyonychia CongenitaAdministration, CutaneousApoptosisCell DifferentiationHumansMutationDrug repurposingGenodermatosisKeratodermaNailsPachyonychia congenita

Identifiers

PMID38099888
PMCPMC13647444

What OpenQuestion holds

Textmetadata
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.