{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T04:39:27Z","timestamp":1721882367564},"reference-count":11,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Sana Medical Genetics Laboratory, Qazvin, Iran"}],"content-domain":{"domain":["clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Current Research in Translational Medicine"],"published-print":{"date-parts":[[2019,5]]},"DOI":"10.1016\/j.retram.2019.01.003","type":"journal-article","created":{"date-parts":[[2019,2,2]],"date-time":"2019-02-02T07:47:05Z","timestamp":1549093625000},"page":"72-75","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran"],"prefix":"10.1016","volume":"67","author":[{"given":"Rita","family":"Bagherian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farideh","family":"Yousefipour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houriyeh Sadat","family":"Mousavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Saffari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elham","family":"HajiShafieha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samin Nesbat","family":"Mohammadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hadi","family":"Mousakhani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyed Mohammad","family":"Fathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amirhossein","family":"Mehrtash","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh Masomi","family":"Verki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donghyun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abolfazl","family":"Heidari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.retram.2019.01.003_bib0005","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.jaad.2008.03.021","article-title":"The H syndrome: a new genodermatosis characterized by indurated, hyperpigmented and hypertrichotic skin with systemic manifestations","volume":"59","author":"Molho-Pessach","year":"2008","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.retram.2019.01.003_bib0010","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jdermsci.2009.09.011","article-title":"The H syndrome: two novel mutations affecting the same amino acid residue of hENT3","volume":"57","author":"Molho-Pessach","year":"2010","journal-title":"J Dermatol Sci"},{"key":"10.1016\/j.retram.2019.01.003_bib0015","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1080\/00498250801927427","article-title":"Human equilibrative nucleoside transporter (ENT) family of nucleoside and nucleobase transporter proteins","volume":"38","author":"Young","year":"2008","journal-title":"Xenobiotica"},{"key":"10.1016\/j.retram.2019.01.003_bib0020","doi-asserted-by":"crossref","first-page":"28343","DOI":"10.1074\/jbc.M110.109199","article-title":"Human equilibrative nucleoside transporter-3(hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability","volume":"285","author":"Kang","year":"2019","journal-title":"J Biol Chem"},{"key":"10.1016\/j.retram.2019.01.003_bib0025","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.jaad.2013.09.019","article-title":"H syndrome: the first 79 patients","volume":"70","author":"Molho-Pessach","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.retram.2019.01.003_bib0030","doi-asserted-by":"crossref","first-page":"579","DOI":"10.4103\/0378-6323.144229","article-title":"H syndrome--four new patients from India","volume":"80","author":"Molho-Pessach","year":"2014","journal-title":"Indian J Dermatol Venereol Leprol"},{"key":"10.1016\/j.retram.2019.01.003_bib0035","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/s12969-017-0204-y","article-title":"H syndrome: 5 new cases from the United States with novel features and responses to therapy","volume":"15","author":"Bloom","year":"2017","journal-title":"Pediatr Rheumatol Online J"},{"issue":"18","key":"10.1016\/j.retram.2019.01.003_bib0040","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1093\/hmg\/ddp161","article-title":"SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway","volume":"15","author":"Cliffe","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.retram.2019.01.003_bib0045","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000833","article-title":"Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease","volume":"6","author":"Morgan","year":"2010","journal-title":"PLoS Genet"},{"key":"10.1016\/j.retram.2019.01.003_bib0050","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1111\/j.1365-4632.2012.05838.x","article-title":"H syndrome with a novel homozygous R134C mutation in SLC29A3 gene","volume":"52","author":"Mohanan","year":"2013","journal-title":"Int J Dermatol"},{"issue":"2","key":"10.1016\/j.retram.2019.01.003_bib0055","doi-asserted-by":"crossref","DOI":"10.5812\/pedinfect.28321","article-title":"A child with syndrome","volume":"4","author":"Nasimfar","year":"2016","journal-title":"Arch Pediatr Infect Dis"}],"container-title":["Current Research in Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2452318619300030?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2452318619300030?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T18:14:13Z","timestamp":1555438453000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2452318619300030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["S2452318619300030"],"URL":"https:\/\/doi.org\/10.1016\/j.retram.2019.01.003","relation":{},"ISSN":["2452-3186"],"issn-type":[{"value":"2452-3186","type":"print"}],"subject":[],"published":{"date-parts":[[2019,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran","name":"articletitle","label":"Article Title"},{"value":"Current Research in Translational Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.retram.2019.01.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}