{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T18:41:44Z","timestamp":1787856104416,"version":"build-2784847793"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2019,3,30]],"date-time":"2019-03-30T00:00:00Z","timestamp":1553904000000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Elite Youth Program of the Chinese Academy of Agricultural Sciences","award":["ASTIP-IAS05"],"award-info":[{"award-number":["ASTIP-IAS05"]}]},{"name":"National Transgenic Project of China","award":["2016ZX08009003-006-007"],"award-info":[{"award-number":["2016ZX08009003-006-007"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31801031"],"award-info":[{"award-number":["31801031"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31272440"],"award-info":[{"award-number":["31272440"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671274"],"award-info":[{"award-number":["81671274"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Strategic Priority Research Programs of CAS","award":["XDA16030300"],"award-info":[{"award-number":["XDA16030300"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,28]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Harlequin ichthyosis (HI) is a severe genetic skin disorder and caused by mutation in the ATP-binding cassette A12 (ABCA12) gene. The retinoid administration has dramatically improved long-term survival of HI, but improvements are still needed. However, the ABCA12 null mice failed to respond to retinoid treatment, which impedes the development of novel cure strategies for HI. Here we generated an ethylnitrosourea mutagenic HI pig model (named Z9), which carries a novel deep intronic mutation IVS49-727 A&amp;gt;G in the ABCA12 gene, resulting in abnormal mRNA splicing and truncated protein production. Z9 pigs exhibit significant clinical symptom as human patients with HI. Most importantly, systemic retinoid treatment significantly prolonged the life span of the mutant pigs via improving epidermal maturation, decreasing epidermal apoptosis, and triggering the expression of ABCA6. Taken together, this pig model perfectly resembles the clinical symptom and molecular pathology of patients with HI and will be useful for understanding mechanistic insight and developing therapeutic strategies.<\/jats:p>","DOI":"10.1093\/jmcb\/mjz021","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T12:47:31Z","timestamp":1553777251000},"page":"1029-1041","source":"Crossref","is-referenced-by-count":13,"title":["A harlequin ichthyosis pig model with a novel ABCA12 mutation can be rescued by acitretin treatment"],"prefix":"10.1093","volume":"11","author":[{"given":"Xiao","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China"},{"name":"University of Chinese Academy of Sciences, Beijing 100049, China"},{"name":"Chinese Swine Mutagenesis Consortium, Beijing 100101, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunwei","family":"Cao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China"},{"name":"Chinese Swine Mutagenesis Consortium, Beijing 100101, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongshun","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China"},{"name":"Chinese Swine Mutagenesis Consortium, Beijing 100101, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tang","family":"Hai","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China"},{"name":"Chinese Swine Mutagenesis 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