{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:58:37Z","timestamp":1791536317840,"version":"4.3.4"},"reference-count":28,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2016,6,1]],"date-time":"2016-06-01T00:00:00Z","timestamp":1464739200000},"content-version":"vor","delay-in-days":366,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["jidonline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1038\/jid.2014.485","type":"journal-article","created":{"date-parts":[[2014,11,14]],"date-time":"2014-11-14T14:54:58Z","timestamp":1415976898000},"page":"1540-1547","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":62,"title":["Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia"],"prefix":"10.1016","volume":"135","author":[{"given":"Lynn M.","family":"Boyden","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany G.","family":"Craiglow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronghua","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin C.","family":"Loring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly D.","family":"Morel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine T.","family":"Lauren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy S.","family":"Paller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith A.","family":"Choate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/jid.2014.485_bb0010","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1016\/j.bbrc.2005.08.019","article-title":"Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150","volume":"335","author":"Akicyama","year":"2005","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1038\/jid.2014.485_bb0015","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.ejmg.2009.08.007","article-title":"Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging","volume":"53","author":"Alao","year":"2010","journal-title":"Eur J Med Genet"},{"key":"10.1038\/jid.2014.485_bb0020","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1016\/j.bbamem.2011.11.017","article-title":"Connexins in wound healing; perspectives in diabetic patients","volume":"1818","author":"Becker","year":"2012","journal-title":"Biochim Biophys Acta"},{"key":"10.1038\/jid.2014.485_bb0025","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1111\/j.0022-202X.2005.23919.x","article-title":"Clinical and genetic heterogeneity of erythrokeratoderma variabilis","volume":"125","author":"Common","year":"2005","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2014.485_bb0030","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1111\/j.1365-2230.2010.03986.x","article-title":"Erythrokeratoderma variabilis caused by a recessive mutation in GJB3","volume":"36","author":"Fuchs-Telem","year":"2011","journal-title":"Clin Exp Dermatol"},{"key":"10.1038\/jid.2014.485_bb0035","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1093\/hmg\/11.11.1311","article-title":"A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein","volume":"11","author":"Gottfried","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1038\/jid.2014.485_bb0040","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/j.1399-0004.2010.01412.x","article-title":"A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation","volume":"78","author":"Jamsheer","year":"2010","journal-title":"Clin Genet"},{"key":"10.1038\/jid.2014.485_bb0045","first-page":"75","article-title":"Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia","volume":"15","author":"Kellermayer","year":"2005","journal-title":"Eur J Dermatol"},{"key":"10.1038\/jid.2014.485_bb0050","first-page":"241","article-title":"A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis","volume":"16","author":"Kelly","year":"2006","journal-title":"Eur J Dermatol"},{"key":"10.1038\/jid.2014.485_bb0055","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1016\/j.febslet.2013.12.022","article-title":"Syndromic and non-syndromic disease-linked Cx43 mutations","volume":"588","author":"Laird","year":"2014","journal-title":"FEBS Lett"},{"key":"10.1038\/jid.2014.485_bb0060","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1038\/jid.2014.485_bb0065","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1016\/S0002-9297(07)62957-7","article-title":"Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis","volume":"67","author":"Macari","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.2014.485_bb0070","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1016\/j.febslet.2014.02.048","article-title":"Connexins: sensors of epidermal integrity that are therapeutic targets","volume":"588","author":"Martin","year":"2014","journal-title":"FEBS Lett"},{"key":"10.1038\/jid.2014.485_bb0075","doi-asserted-by":"crossref","first-page":"2516","DOI":"10.1038\/sj.jid.5700770","article-title":"Gap junctions: basic structure and function","volume":"127","author":"Me\u015fe","year":"2007","journal-title":"J Invest Dermatol"},{"key":"10.1038\/jid.2014.485_bb0080","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jaad.2003.12.042","article-title":"A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad","volume":"51","author":"Montgomery","year":"2004","journal-title":"J Am Acad Dermatol"},{"key":"10.1038\/jid.2014.485_bb0085","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1086\/346090","article-title":"Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia","volume":"72","author":"Paznekas","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1038\/jid.2014.485_bb0090","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1365-2362.2010.02378.x","article-title":"Mutations in connexin genes and disease","volume":"41","author":"Pfenniger","year":"2011","journal-title":"Eur J Clin Invest"},{"key":"10.1038\/jid.2014.485_bb0095","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1034\/j.1600-0625.2000.009002077.x","article-title":"Connexins: a connection with the skin","volume":"9","author":"Richard","year":"2000","journal-title":"Exp Dermatol"},{"key":"10.1038\/jid.2014.485_bb0100","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/3840","article-title":"Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis","volume":"20","author":"Richard","year":"1998","journal-title":"Nat Genet"},{"key":"10.1038\/jid.2014.485_bb0105","doi-asserted-by":"crossref","first-page":"e37","DOI":"10.1136\/jmg.2005.037655","article-title":"A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome","volume":"43","author":"Richardson","year":"2006","journal-title":"J Med Genet"},{"key":"10.1038\/jid.2014.485_bb0110","doi-asserted-by":"crossref","first-page":"1952","DOI":"10.1016\/j.bbamem.2011.09.004","article-title":"Connexins in epidermal homeostasis and skin disease","volume":"1818","author":"Scott","year":"2012","journal-title":"Biochim Biophys Acta"},{"key":"10.1038\/jid.2014.485_bb0115","doi-asserted-by":"crossref","first-page":"3312","DOI":"10.1091\/mbc.e12-02-0128","article-title":"Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia","volume":"23","author":"Shao","year":"2012","journal-title":"Mol Biol Cell"},{"key":"10.1038\/jid.2014.485_bb0120","first-page":"72","article-title":"Clinodactyly\u2014frequency and morphological implications","volume":"26","author":"Skvarilov\u00e1","year":"1984","journal-title":"Acta Chir Plast"},{"key":"10.1038\/jid.2014.485_bb0125","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1111\/j.1365-2133.2004.05965.x","article-title":"Does progressive symmetric erythrokeratoderma exist?","volume":"150","author":"van Steensel","year":"2004","journal-title":"Br J Dermatol"},{"key":"10.1038\/jid.2014.485_bb0130","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1002\/ajmg.a.32744","article-title":"The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron","volume":"149A","author":"van Steensel","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1038\/jid.2014.485_bb0135","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/ajmg.a.30412","article-title":"A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma","volume":"132A","author":"van Steensel","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1038\/jid.2014.485_bb0140","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/ajmg.a.31558","article-title":"Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43","volume":"143","author":"Vreeburg","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1038\/jid.2014.485_bb0145","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1365-2230.2010.03974.x","article-title":"Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia","volume":"36","author":"Wei","year":"2011","journal-title":"Clin Exp Dermatol"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15372833?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15372833?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T21:58:26Z","timestamp":1743976706000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15372833"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["S0022202X15372833"],"URL":"https:\/\/doi.org\/10.1038\/jid.2014.485","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia","name":"articletitle","label":"Article Title"},{"value":"Journal of Investigative Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/jid.2014.485","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The Society for Investigative Dermatology, Inc. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}