Cited by 250Genetic and rare skin diseases.Skin and Cellular Biology ResearchDermatology and Skin Diseases

Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda

Open access
Chimienti, F.·2003·Human Molecular Genetics

Abstract

Mal de Meleda is an autosomal recessive inflammatory and keratotic palmoplantar skin disorder due to mutations in the ARS B gene, encoding for SLURP-1 (secreted mammalian Ly-6/uPAR-related protein 1). SLURP-1 belongs to the Ly-6/uPAR superfamily of receptor and secreted proteins, which participate in signal transduction, immune cell activation or cellular adhesion. The high degree of structural similarity between SLURP-1 and the three fingers motif of snake neurotoxins and Lynx1 suggests that this protein interacts with the neuronal acetylcholine receptors. We found that SLURP-1 potentiates the human alpha 7 nicotinic acetylcholine receptors that are present in keratinocytes. These results identify SLURP-1 as a secreted epidermal neuromodulator which is likely to be essential for both epidermal homeostasis and inhibition of TNF-alpha release by macrophages during wound healing. This explains both the hyperproliferative as well as the inflammatory clinical phenotype of Mal de Meleda.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1093/hmg/ddg320

Cites

42 of 42 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Chimienti, F.
Affiliations
Centre Hospitalier Universitaire Vaudois (CH)
Corresponding author
Chimienti, F.
Venue
Human Molecular Genetics
Published
2003-09-18
Volume
12
Issue
22
Pages
3017-3024
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
OpenAlex
W2127747996
Cited by
247
References
40
Citations by year
2026: 2 · 2025: 4 · 2024: 3 · 2023: 7 · 2022: 2 · 2021: 8 · 2020: 7 · 2019: 8 · 2018: 9 · 2017: 11 · 2016: 14 · 2015: 16 · 2014: 12 · 2013: 9 · 2012: 18
FWCI
6.05
Type
journal article
Language
en
Open access
Locations
  • Human Molecular Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • SERVAL (Université de Lausanne) (publishedVersion, other-oa)
  • reroDoc Digital Library (submittedVersion)
  • IRIS (submittedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
Funders
  • National Science Foundation
  • Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
  • Health Sciences › Medicine › Dermatology › Dermatology and Skin Diseases
Keywords
SLURP-1, Mal de Meleda, alpha7 nicotinic acetylcholine receptor, keratinocytes, keratosis, anti-TNF therapy, macrophages, wound healing, epidermal homeostasis, autosomal recessive inheritance
MeSH terms
Acetylcholine, Amino Acid Sequence, Animals, Antigens, Ly, Cell Line, Cell Nucleus, Clone Cells, Dose-Response Relationship, Drug, Epidermis, Female, Genes, Recessive, Humans, Keratoderma, Palmoplantar, Microinjections, Models, Molecular, Moths, Mutation, Oocytes, Peptides, Phenotype, Receptors, Cholinergic, Recombinant Proteins, Urokinase-Type Plasminogen Activator, Xenopus laevis, Protein Structure, Tertiary, DNA, Complementary, Neurotransmitter Agents, Patch-Clamp Techniques

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review