{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T10:14:45Z","timestamp":1778926485732,"version":"3.51.4"},"reference-count":40,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T00:00:00Z","timestamp":1529539200000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008793","name":"Universidad del Rosario","doi-asserted-by":"publisher","award":["CS\/Genetics\/CIGGUR\/CS2018"],"award-info":[{"award-number":["CS\/Genetics\/CIGGUR\/CS2018"]}],"id":[{"id":"10.13039\/501100008793","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, depending on the severity of clinical signs and symptoms. Fucosidosis patients\u2019 skin abnormalities include angiokeratoma corporis diffusum, widespread telangiectasia, thick skin, hyperhidrosis and hypohidrosis, acrocyanosis and distal transverse nail bands. It has been described that &gt;50% of fucosidosis patients have angiokeratoma. At molecular level, fucosidosis is caused by lysosomal alpha\u2010L\u2010fucosidase (<jats:italic><jats:styled-content style=\"fixed-case\">FUCA<\/jats:styled-content>1<\/jats:italic>) gene mutations. Obtaining samples for functional studies has been challenging due to the inherent difficulty in finding affected individuals. The effect of <jats:italic><jats:styled-content style=\"fixed-case\">FUCA<\/jats:styled-content>1<\/jats:italic> dysfunction on gene expression is unknown. The aim of this study was to analyse, in keratinocytes, the transcriptomic effect of <jats:italic><jats:styled-content style=\"fixed-case\">FUCA<\/jats:styled-content>1<\/jats:italic> knock\u2010down for a better understanding of skin lesions\u2019 pathogenesis affecting fucosidosis patients. <jats:italic><jats:styled-content style=\"fixed-case\">FUCA<\/jats:styled-content>1<\/jats:italic> knock\u2010down (si<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content>) was performed in human HaCaT immortalised keratinocytes. Affymetrix arrays and <jats:styled-content style=\"fixed-case\">qPCR<\/jats:styled-content> were used for analysing gene expression. Bioinformatics was used for functional clustering of modified genes. In total, 387 genes showed differential expression between <jats:italic><jats:styled-content style=\"fixed-case\">FUCA<\/jats:styled-content>1<\/jats:italic> silenced and non\u2010silenced cells (222 up\u2010regulated and 165 down\u2010regulated). Up\u2010regulated genes belonged to two major groups: keratinocyte differentiation\/epidermal development (n\u00a0=\u00a017) and immune response (n\u00a0=\u00a061). Several transcription factors were up\u2010regulated in <jats:italic><jats:styled-content style=\"fixed-case\">FUCA<\/jats:styled-content>1<\/jats:italic>\u2010si<jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content> transfected cells. This effect might partly have been produced by abnormal transcription factor expression, that is <jats:italic><jats:styled-content style=\"fixed-case\">FOXN<\/jats:styled-content>1<\/jats:italic>. We thus propose that fucosidosis\u2010related skin lesions (eg angiokeratoma) and those of other diseases (eg psoriasis) might be caused by dysfunctions in common aetiological overlapping molecular cascades.<\/jats:p>","DOI":"10.1111\/exd.13532","type":"journal-article","created":{"date-parts":[[2018,3,8]],"date-time":"2018-03-08T17:28:35Z","timestamp":1520530115000},"page":"663-667","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Transcriptomic analysis of <i><scp>FUCA<\/scp>1<\/i> knock\u2010down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions"],"prefix":"10.1111","volume":"27","author":[{"given":"Danyela","family":"Valero\u2010Rubio","sequence":"first","affiliation":[{"name":"Center For Research in Genetics and Genomics\u2010CIGGUR GENIUROS Research Group School of Medicine and Health Sciences Universidad del Rosario  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen Marcela","family":"Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Center For Research in Genetics and Genomics\u2010CIGGUR GENIUROS Research Group School of Medicine and Health Sciences Universidad del Rosario  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dora Janeth","family":"Fonseca","sequence":"additional","affiliation":[{"name":"Center For Research in Genetics and Genomics\u2010CIGGUR GENIUROS Research Group School of Medicine and Health Sciences Universidad del Rosario  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9sar","family":"Pay\u00e1n\u2010G\u00f3mez","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias Naturales y Matem\u00e1ticas Universidad del Rosario  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4180-4796","authenticated-orcid":false,"given":"Paul","family":"Laissue","sequence":"additional","affiliation":[{"name":"Center For Research in Genetics and Genomics\u2010CIGGUR GENIUROS Research Group School of Medicine and Health Sciences Universidad del Rosario  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,6,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380125"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(99)00077-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1177\/014107689408701124","volume":"87","author":"George S.","year":"1994","journal-title":"J. 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