{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T06:17:16Z","timestamp":1768457836474,"version":"3.49.0"},"reference-count":85,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T00:00:00Z","timestamp":1747094400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Kahn Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,8,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Dual specificity phosphatase 1 (DUSP1) has recently been shown to regulate keratinocyte (KC) proliferation through extracellular regulated kinase (ERK) signalling.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To delineate the genetic basis underlying inherited palmoplantar keratoderma (PPK) in two families.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We used whole-exome and direct sequencing, quantitative real-time polymerase chain reaction, protein modelling, immunofluorescence confocal microscopy, immunoblotting, three-dimensional skin equivalents and the dispase-based KC dissociation assay.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Whole-exome sequencing revealed two variants in DUSP1 (c.809T&amp;gt;G, p.Leu270Arg and c.251T&amp;gt;A, p.Val84Glu), encoding DUSP1, in four individuals with PPK belonging to two unrelated families affected by a semidominant form of PPK. Bioinformatics and protein modelling predicted the variants to be pathogenic. Primary human KCs transfected with constructs expressing the PPK-causing pathogenic variants in DUSP1 showed decreased DUSP1 expression and concomitant increased expression of phosphorylated (p-)ERK1\/2, as well as reduced desmoglein 1 (DSG1) expression. Accordingly, primary human KCs downregulated for DUSP1 displayed disrupted cell\u2013cell adhesion, increased p-ERK1\/2 and reduced DSG1 expression. Three-dimensional organotypic skin equivalents downregulated for DUSP1 demonstrated reduced DSG1 expression and increased epidermal thickness, reminiscent of the human phenotype. ERK1\/2 inhibition rescued this abnormal phenotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study attributes to DUSP1 a hitherto unrecognized role in epidermal differentiation and expands the spectrum of genetic defects known to cause inherited PPK.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/bjd\/ljaf181","type":"journal-article","created":{"date-parts":[[2025,5,12]],"date-time":"2025-05-12T07:33:06Z","timestamp":1747035186000},"page":"532-543","source":"Crossref","is-referenced-by-count":2,"title":["Loss-of-function variants in <i>DUSP1<\/i> encoding dual specificity phosphatase 1 cause palmoplantar keratoderma"],"prefix":"10.1093","volume":"193","author":[{"given":"Kiril","family":"Malovitski","sequence":"first","affiliation":[{"name":"Division of Dermatology, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]},{"name":"Grey Faculty of Medicine and Health Sciences , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yarden","family":"Feller","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]},{"name":"Grey Faculty of Medicine and Health Sciences , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moshe","family":"Giladi","sequence":"additional","affiliation":[{"name":"Grey Faculty of Medicine and Health Sciences , Tel Aviv ,","place":["Israel"]},{"name":"Department of Internal Medicine D, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajit B","family":"Janagond","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy, Shri B M Patil Medical College and Research Centre , BLDE, Vijayapura ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Namratha","family":"Shivaraj","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy, Shri B M Patil Medical College and Research Centre , BLDE, Vijayapura ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gurushantappa S","family":"Kadakol","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy, Shri B M Patil Medical College and Research Centre , BLDE, Vijayapura ,","place":["India"]},{"name":"Genetics Laboratory, Department of Anatomy, Shri B M Patil Medical College and Research Centre , BLDE, Vijayapura ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubna","family":"Khair","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5574-4918","authenticated-orcid":false,"given":"Sari","family":"Assaf","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]},{"name":"Grey Faculty of Medicine and Health Sciences , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janan","family":"Mohamad","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]},{"name":"Grey Faculty of Medicine and Health Sciences , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rawaa","family":"Ishtewy","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]},{"name":"Grey Faculty of Medicine and Health Sciences , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Ildardashty","sequence":"additional","affiliation":[{"name":"Grey Faculty of Medicine and Health Sciences , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liat","family":"Samuelov","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]},{"name":"Grey Faculty of Medicine and Health Sciences , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ofer","family":"Sarig","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Tel Aviv Medical Center , Tel Aviv ,","place":["Israel"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arun C","family":"Inamadar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy, Shri B M Patil Medical College and 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Part II: syndromic palmoplantar keratodermas \u2013 diagnostic algorithm and principles of therapy","volume":"32","author":"Guerra","year":"2018","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2025081809371075600_ljaf181-B5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2165\/00128071-200708010-00001","article-title":"Acquired palmoplantar keratoderma","volume":"8","author":"Patel","year":"2007","journal-title":"Am J Clin Dermatol"},{"key":"2025081809371075600_ljaf181-B6","first-page":"364","article-title":"Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy","volume":"193","author":"Sprecher","year":"2025","journal-title":"Br J Dermatol"},{"key":"2025081809371075600_ljaf181-B7","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1001\/archderm.141.5.625","article-title":"Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in 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