The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family
Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure....
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| Veröffentlicht in: | Journal of investigative dermatology 2020-11, Vol.140 (11), p.2111-2113 |
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| container_title | Journal of investigative dermatology |
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| creator | Steele, Lloyd Tawfik, Soha S. O’Toole, Edel A. |
| description | Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure. Understanding this disorder may shed further light on the role of proteases and their inhibitors in epidermal physiology. |
| doi_str_mv | 10.1016/j.jid.2020.06.031 |
| format | Article |
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(2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure. Understanding this disorder may shed further light on the role of proteases and their inhibitors in epidermal physiology.</description><subject>Epidermis</subject><subject>Humans</subject><subject>Keratoderma, Palmoplantar - genetics</subject><subject>Mutation</subject><subject>Peptide Hydrolases - genetics</subject><subject>Proteolysis</subject><subject>Serpins - genetics</subject><issn>0022-202X</issn><issn>1523-1747</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtOHDEQRS0UBBPgA7KJeplNN347TlYIQQJBMOIhZWfZ7mrFk-7xYHsSzd9jNMASb2rhc6-qDkKfCO4IJvJ40S1C31FMcYdlhxnZQTMiKGuJ4uoDmmFMaVu_f--jjzkvcM1w8XUP7TOGtWZazdDN_R9o5ikWiOOmBN9cQ_kf098mLJu5Hae4Gu2y2NT8gmRL7CFN9ltzd3Y7v7g-IbS5jGGZm1JLzu0Uxs0h2h3smOHoZR6gh_Oz-9Of7dXNj4vTk6vWMy1L670UbhDCKyKZc5p5pTgBp4nVzoOgWA1KDgOh2jsuB-YFVlzWp7l22LED9GXbu0rxcQ25mClkD2PdFuI6G8oF54RgISpKtqhPMecEg1mlMNm0MQSbZ49mYapH8-zRYGmqx5r5_FK_dhP0b4lXcRX4vgWgHvkvQDLZB1h66EMCX0wfwzv1T4sjgZk</recordid><startdate>202011</startdate><enddate>202011</enddate><creator>Steele, Lloyd</creator><creator>Tawfik, Soha S.</creator><creator>O’Toole, Edel A.</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9493-0828</orcidid><orcidid>https://orcid.org/0000-0003-4745-1338</orcidid><orcidid>https://orcid.org/0000-0002-4084-4836</orcidid></search><sort><creationdate>202011</creationdate><title>The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family</title><author>Steele, Lloyd ; Tawfik, Soha S. ; O’Toole, Edel A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c396t-cc65bf55c7163bb93c7741eb91a9bce5207f76ff129cb46f3c50746666949b0b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Epidermis</topic><topic>Humans</topic><topic>Keratoderma, Palmoplantar - genetics</topic><topic>Mutation</topic><topic>Peptide Hydrolases - genetics</topic><topic>Proteolysis</topic><topic>Serpins - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Steele, Lloyd</creatorcontrib><creatorcontrib>Tawfik, Soha S.</creatorcontrib><creatorcontrib>O’Toole, Edel A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of investigative dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Steele, Lloyd</au><au>Tawfik, Soha S.</au><au>O’Toole, Edel A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family</atitle><jtitle>Journal of investigative dermatology</jtitle><addtitle>J Invest Dermatol</addtitle><date>2020-11</date><risdate>2020</risdate><volume>140</volume><issue>11</issue><spage>2111</spage><epage>2113</epage><pages>2111-2113</pages><issn>0022-202X</issn><eissn>1523-1747</eissn><abstract>Mohamad et al. 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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Epidermis Humans Keratoderma, Palmoplantar - genetics Mutation Peptide Hydrolases - genetics Proteolysis Serpins - genetics |
| title | The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family |
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