{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T19:58:21Z","timestamp":1775678301486,"version":"3.50.1"},"reference-count":53,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jdsjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2020,2]]},"DOI":"10.1016\/j.jdermsci.2019.12.013","type":"journal-article","created":{"date-parts":[[2019,12,31]],"date-time":"2019-12-31T09:00:29Z","timestamp":1577782829000},"page":"94-100","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"title":["Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma"],"prefix":"10.1016","volume":"97","author":[{"given":"Toshifumi","family":"Nomura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2019.12.013_bib0005","doi-asserted-by":"crossref","first-page":"463","DOI":"10.3109\/03014460.2013.807878","article-title":"An estimation of the number of cells in the human body","volume":"40","author":"Bianconi","year":"2013","journal-title":"Ann. Hum. Biol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0010","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.tig.2011.03.002","article-title":"Somatic mosaicism in healthy human tissues","volume":"27","author":"De","year":"2011","journal-title":"Trends Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0015","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1038\/nrc.2015.1","article-title":"Somatic mosaicism: on the road to cancer","volume":"16","author":"Fern\u00e1ndez","year":"2016","journal-title":"Nat. Rev. Cancer"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0020","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000183","article-title":"A catalog of neutral and deleterious polymorphism in yeast","volume":"4","author":"Doniger","year":"2008","journal-title":"PLoS Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0025","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1126\/science.aaa6806","article-title":"Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin","volume":"348","author":"Martincorena","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0030","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.stem.2015.09.016","article-title":"Frequent somatic mutation in adult intestinal stem cells drives neoplasia and genetic mosaicism during aging","volume":"17","author":"Siudeja","year":"2015","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0035","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1038\/nature19768","article-title":"Tissue-specific mutation accumulation in human adult stem cells during life","volume":"538","author":"Blokzijl","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0040","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0092-8674(00)81894-2","article-title":"Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion","volume":"88","author":"Jonkman","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0045","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.1056\/NEJMc0809896","article-title":"Revertant mosaicism \u2013 patchwork in the skin","volume":"309","author":"Jonkman","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0050","doi-asserted-by":"crossref","first-page":"2229","DOI":"10.1007\/s00018-017-2468-2","article-title":"Revertant mosaicism in genodermatoses","volume":"74","author":"Lim","year":"2017","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0055","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.molmed.2010.11.003","article-title":"Revertant mosaicism in skin: natural gene therapy","volume":"17","author":"Lai-Cheong","year":"2011","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0060","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/s41576-019-0139-x","article-title":"Somatic genetic rescue in Mendelian hematopoietic diseases","volume":"20","author":"Revy","year":"2019","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0065","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/j.cell.2019.03.026","article-title":"Somatic mutations increase hepatic clonal fitness and regeneration in chronic liver disease","volume":"177","author":"Zhu","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0070","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF01534590","article-title":"Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement","volume":"14","author":"Yang","year":"1988","journal-title":"Somat. Cell Mol. Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0075","first-page":"59","article-title":"Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery","volume":"55","author":"Hirschhorn","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0080","doi-asserted-by":"crossref","first-page":"e201800284","DOI":"10.26508\/lsa.201800284","article-title":"Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma","volume":"2","author":"Suzuki","year":"2019","journal-title":"Life Sci. Alliance"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0085","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1126\/science.1192280","article-title":"Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10","volume":"330","author":"Choate","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0090","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1172\/JCI64415","article-title":"Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti","volume":"125","author":"Choate","year":"2015","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0095","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1093\/hmg\/ddx017","article-title":"Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26","volume":"26","author":"Gudmundsson","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0100","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0192994","article-title":"A \u201clate-but-fitter revertant cell\u201d explains the high frequency of revertant mosaicism in epidermolysis bullosa","volume":"13","author":"van den Akker","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0105","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/j.ajhg.2012.01.004","article-title":"Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita","volume":"90","author":"Jongmans","year":"2012","journal-title":"Am. Hum. J. Genet"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0110","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/j.cell.2015.01.014","article-title":"Chromothriptic cure of WHIM syndrome","volume":"160","author":"McDermott","year":"2015","journal-title":"Cell"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0115","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1007\/s00439-017-1810-y","article-title":"Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy","volume":"136","author":"Federico","year":"2017","journal-title":"Hum. Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0120","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1006\/mgme.1998.2695","article-title":"Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes","volume":"64","author":"Poudrier","year":"1998","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0125","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1172\/JCI91161","article-title":"Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations","volume":"127","author":"Maryoung","year":"2017","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0130","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1016\/j.jaci.2015.06.008","article-title":"An in vivo genetic reversion highlights the crucial role of Myb- Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation","volume":"136","author":"Le Guen","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0135","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1172\/JCI91913","article-title":"Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans","volume":"127","author":"Buonocore","year":"2017","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0140","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1016\/j.jaci.2014.03.025","article-title":"Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype","volume":"133","author":"Jing","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0145","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.jaci.2016.06.020","article-title":"Primary T cell immunodeficiency with functional revertant somatic mosaicism in CD247","volume":"139","author":"Marin","year":"2017","journal-title":"J. Allergy Clin. Immunol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0150","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/s10875-014-0051-2","article-title":"RAG1 reversion mosaicism in a patient with Omenn syndrome","volume":"34","author":"Crestani","year":"2014","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0155","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/s10875-015-0174-0","article-title":"IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype","volume":"35","author":"Hsu","year":"2015","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0160","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1182\/blood-2006-08-039057","article-title":"Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1","volume":"109","author":"Tone","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0165","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1084\/jem.20112391","article-title":"Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus","volume":"209","author":"Palendira","year":"2012","journal-title":"J. Exp. Med."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0170","doi-asserted-by":"crossref","first-page":"5064","DOI":"10.1182\/blood-2007-06-095299","article-title":"Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome","volume":"111","author":"Davis","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0175","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/ng0796-290","article-title":"Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency","volume":"13","author":"Hirschhorn","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0180","first-page":"1019","article-title":"Somatic intragenic recombination within the mutated locus BLM can correct the high sister chromatid exchange phenotype of Bloom syndrome cells","volume":"57","author":"Ellis","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0185","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1186\/s13023-015-0336-4","article-title":"Ichthyosis with confetti: clinics, molecular genetics and management","volume":"10","author":"Guerra","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0190","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1016\/j.jid.2016.06.016","article-title":"Large intragenic KRT1 deletion underlying atypical autosomal dominant keratinopathic ichthyosis","volume":"136","author":"Takeichi","year":"2016","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0195","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1016\/j.jid.2016.05.109","article-title":"Revertant mosaicism in ichthyosis with confetti caused by a frameshift mutation in KRT1","volume":"136","author":"Suzuki","year":"2016","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0200","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1016\/j.jid.2016.04.023","article-title":"Genetic reversion via mitotic recombination in ichthyosis with confetti due to a KRT10 polyalanine frameshift mutation","volume":"136","author":"Lim","year":"2016","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0205","doi-asserted-by":"crossref","first-page":"8442","DOI":"10.1111\/jcmm.14727","article-title":"Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti","volume":"23","author":"Renz","year":"2019","journal-title":"J. Cell. Mol. Med."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0210","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.97595","article-title":"Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes","volume":"3","author":"Nomura","year":"2018","journal-title":"JCI Insight"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0215","doi-asserted-by":"crossref","first-page":"473","DOI":"10.2340\/00015555-2299","article-title":"Expanding the clinical and genetic spectrum of KRT1, KRT2 and KRT10 mutations in keratinopathic ichthyosis","volume":"96","author":"Hotz","year":"2016","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0220","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1111\/exd.12304","article-title":"Pigmentation and melanocyte supply to the epidermis depend on type XVII collagen","volume":"23","author":"Gosty\u0144ski","year":"2014","journal-title":"Exp. Dermatol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0225","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1093\/genetics\/146.2.695","article-title":"Recombination and gene flux caused by gene conversion and crossing over in inversion heterokaryotypes","volume":"146","author":"Navarro","year":"1997","journal-title":"Genetics"},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0230","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1086\/515518","article-title":"The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope","volume":"61","author":"Ishida-Yamamoto","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0235","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0923-1811(02)00143-3","article-title":"Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin","volume":"31","author":"Ishida-Yamamoto","year":"2003","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0240","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1038\/s41580-019-0152-0","article-title":"DNA double-strand break repair-pathway choice in somatic mammalian cells","volume":"20","author":"Scully","year":"2019","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0245","doi-asserted-by":"crossref","first-page":"579","DOI":"10.2340\/00015555-1796","article-title":"Zambruno, Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10","volume":"94","author":"Diociaiuti","year":"2014","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0250","doi-asserted-by":"crossref","first-page":"130","DOI":"10.2340\/00015555-2776","article-title":"Ichthyosis with confetti inherited from a mosaic father","volume":"98","author":"Pallesen","year":"2018","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0255","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.jaad.2013.08.052","article-title":"Successful therapeutic transplantation of revertant skin in epidermolysis bullosa","volume":"70","author":"Gosty\u0144ski","year":"2014","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0260","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1038\/jid.2013.523","article-title":"Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa","volume":"134","author":"Tolar","year":"2014","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jdermsci.2019.12.013_bib0265","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3009342","article-title":"Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa","volume":"6","author":"Umegaki-Arao","year":"2014","journal-title":"Sci. Transl. Med."}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181119304190?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181119304190?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T04:50:30Z","timestamp":1760331030000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181119304190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2]]},"references-count":53,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["S0923181119304190"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2019.12.013","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2020,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2019.12.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}