Evidence map›Paper›PMID 30471252›Full record

ReviewThe Journal of investigative dermatology2019

Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte Lipid Envelope.

Debra Crumrine, Denis Khnykin, Peter Krieg, Mao-Qiang Man, Anna Celli, Theodora M Mauro, Joan S Wakefield, Gopinathan Menon, Elizabeth Mauldin, Jeffrey H Miner and 10 more

Open access · greenAbstract readReview
In one paragraph

Review 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 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

23 citing papers in PubMed, 49 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Cetacean epidermal specialization: A review.Anatomia, histologia, embryologia · 2022
    Review
  7. Article
  8. Article
  9. Review
  10. MC5R Contributes to Sensitivity to UVB Waves and Barrier Function in Mouse Epidermis.JID innovations : skin science from molecules to population health · 2021
    Article
  11. Article
  12. Article
  13. Roles of Lipids in the Permeability Barriers of Skin and Oral Mucosa.International journal of molecular sciences · 2021
    Review
  14. Article
  15. Article
  16. Ichthyosis: A Road Model for Skin Research.Acta dermato-venereologica · 2020
    Review
  17. Article
  18. Article
  19. Effects of omega-Journal of lipid research · 2020
    Article
  20. 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

20 authors at 12 institutions in 5 countries.

Debra CrumrineDermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA.
Denis KhnykinDepartment of Pathology, Oslo University Hospital, Oslo, Norway; Centre for Immune Regulation, University of Oslo, Oslo, Norway.
Peter KriegMolecular Diagnostics of Oncogenic Infections, German Cancer Research Center, Heidelberg, Germany.
Mao-Qiang ManDermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA.
Anna CelliDermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA.
Theodora M MauroDermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA.
Joan S WakefieldDermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA.
Gopinathan MenonCalifornia Academy of Sciences, San Francisco, California, USA.
Elizabeth MauldinDepartment of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Jeffrey H MinerDepartment of Medicine, Division of Nephrology, Washington University, St. Louis, Missouri, USA.
Meei-Hua LinDepartment of Medicine, Division of Nephrology, Washington University, St. Louis, Missouri, USA.
Alan R BrashDepartment of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Eli SprecherDepartment of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Franz P W RadnerInstitute of Molecular Biosciences, University of Graz, Graz, Austria.
Keith ChoateDepartments of Dermatology and Genetics, Yale University, New Haven, Connecticut, USA.
Dennis RoopDepartment of Dermatology, University of Colorado, Denver, Colorado, USA.
Yoshikazu UchidaDermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA.
Robert GruberDepartment of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.
Matthias SchmuthDepartment of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.
Peter M EliasDermatology Service, Veterans Affairs Medical Center, San Francisco, California, USA; Department of Dermatology, University of California-San Francisco, San Francisco, California, USA. Electronic address: peter.elias@ucsf.edu.
San Francisco VA Medical Center · USInnsbruck Medical University · ATWashington University in St. Louis · USCalifornia Academy of Sciences · USGerman Cancer Research Center · DEOslo University Hospital · NOTel Aviv Sourasky Medical Center · ILUniversity of Colorado Denver · USUniversity of Graz · ATUniversity of Pennsylvania · USVanderbilt University · USYale University · US

Funding

Translational InformaticsP30CA082103 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Jennifer Leigh Clarke · 1999 to 2026
$209.7M
Referral Ctr-Animal models of human genetic diseaseP40OD010939 · OD · UNIVERSITY OF PENNSYLVANIA · PI CASAL, MARGRET L · 2012 to 2023
$7.9M
Genetics and Pathobiology of Disorders of KeratinizationR01AR068392 · NIAMS · YALE UNIVERSITY · PI KEITH A CHOATE · 2015 to 2026
$5.7M
Pathogenesis and Therapy of Ichthyosis in Disorders of Lipid MetabolismR01AR061106 · NIAMS · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI MAURO, THEODORA M · 2012 to 2022
$3.3M
Linking Lipoxygenases with Essential Fatty Acids and Epidermal Barrier FormationR01AR051968 · NIAMS · VANDERBILT UNIVERSITY · PI BRASH, ALAN R. · 2005 to 2016
$3.0M
Role of FATP4 in Skin DevelopmentR01AR049269 · NIAMS · WASHINGTON UNIVERSITY · PI MINER, JEFFREY H · 2003 to 2012
$2.4M
Austrian Science Fund FWF P 32225NCI NIH HHS P30 CA082103NIAMS NIH HHS R01 AR049269NIAMS NIH HHS R01 AR051968NIAMS NIH HHS R01 AR061106NIAMS NIH HHS R01 AR068392NIH HHS P40 OD010939
6 · The paper itself

Abstract

The corneocyte lipid envelope (CLE), a monolayer of ω-hydroxyceramides whose function(s) remain(s) uncertain, is absent in patients with autosomal recessive congenital ichthyoses with mutations in enzymes that regulate epidermal lipid synthesis. Secreted lipids fail to transform into lamellar membranes in certain autosomal recessive congenital ichthyosis epidermis, suggesting the CLE provides a scaffold for the extracellular lamellae. However, because cornified envelopes are attenuated in these autosomal recessive congenital ichthyoses, the CLE may also provide a scaffold for subjacent cornified envelope formation, evidenced by restoration of cornified envelopes after CLE rescue. We provide multiple lines of evidence that the CLE originates as lamellar body-limiting membranes fuse with the plasma membrane: (i) ABCA12 patients and Abca12

Indexed as

MutationAnimalsDNADNA Mutational AnalysisHumansIchthyosiform Erythroderma, CongenitalLipid MetabolismLipidsSkinDNALipids

Identifiers

PMID30471252
PMCPMC11249047
OpenAlexW2900455930

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.