{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T12:45:00Z","timestamp":1774701900716,"version":"3.50.1"},"reference-count":65,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T00:00:00Z","timestamp":1738800000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR068392"],"award-info":[{"award-number":["R01AR068392"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR079428"],"award-info":[{"award-number":["R01AR079428"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH Medical Scientist Training Program Training","award":["T32GM136651"],"award-info":[{"award-number":["T32GM136651"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Epidermal differentiation disorders [EDDs; ichthyosis and palmoplantar keratoderma (PPK)] are heritable skin conditions characterized by localized or generalized skin scaling and erythema.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To identify novel genetic variants that cause PPK and progressive symmetric erythrokeratoderma (PSEK) phenotypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We performed whole-exome sequencing in a large cohort of people with EDD, including PPK and PSEK phenotypes, to identify novel genetic variants. We investigated the variant consequence using in silico predictions, assays in patient keratinocytes, high-resolution spatial transcriptomics and quantitative cytokine profiling.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified three unrelated kindreds with autosomal dominant transmission of heterozygous SLURP1 variants affecting the same amino acid within the signal peptide (c.65C &amp;gt; A, p.A22D and c.65C &amp;gt; T, p.A22V). One (p.A22V) had isolated PPK; the other two (p.A22D) had PSEK and PPK. In silico modelling suggested that both variants alter pro-SLURP1 cleavage, appending two amino acids to the secreted protein, which we subsequently confirmed with mass spectrometry. In patient keratinocytes we found increased differentiation-induced SLURP1 expression and secretion compared to healthy control cells. Spatial transcriptomics revealed increased nuclear factor-\u03baB (NF-\u03baB) signalling and innate immune activity, which may contribute to epidermal hyperproliferation in dominant SLURP1-PPK\/PSEK.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our results expand the phenotypic spectrum of EDD due to SLURP1 pathogenic variants. While autosomal recessive Mal de Meleda is due to biallelic loss-of-function SLURP1 variants, our finding of autosomal dominant SLURP1 pathogenic variants in kindreds with PPK and PSEK suggests a novel mechanism of action. We found that heterozygous p.A22V and p.A22D SLURP1 variants append two amino acids to secreted SLURP1, increase differentiation-induced SLURP1 expression and secretion and upregulate NF-\u03baB signalling in people with PSEK.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bjd\/ljaf049","type":"journal-article","created":{"date-parts":[[2025,2,6]],"date-time":"2025-02-06T19:38:21Z","timestamp":1738870701000},"page":"896-906","source":"Crossref","is-referenced-by-count":2,"title":["Autosomal dominant <i>SLURP1<\/i> variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma"],"prefix":"10.1093","volume":"192","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9891-6353","authenticated-orcid":false,"given":"Xingyuan","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9666-4394","authenticated-orcid":false,"given":"Ryland D","family":"Mortlock","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]},{"name":"Department of Genetics, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6528-5068","authenticated-orcid":false,"given":"Ivan B","family":"Lomakin","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronghua","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Laura","family":"Cossio","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Pontificia Universidad Cat\u00f3lica de Chile , Santiago ,","place":["Chile"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4011-8308","authenticated-orcid":false,"given":"Christopher G","family":"Bunick","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1010-6354","authenticated-orcid":false,"given":"Keith 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