{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:45:46Z","timestamp":1792151146096,"version":"4.4.0"},"reference-count":13,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2012]]},"abstract":"<b><i>Background:<\/i><\/b> H syndrome is a rare autosomal recessive genetic disorder which involves the skin and other systemic organs and is caused by mutations in the <i>SLC29A3<\/i> gene. <b><i>Objectives:<\/i><\/b> To disclose the molecular basis of H syndrome in two Syrian families, and to determine the localization of hENT3 in human skin. <b><i>Methods:<\/i><\/b> DNA from two Syrian families with H syndrome was analyzed through direct sequencing, and the expression of hENT3 in normal human skin was investigated by in situ hybridization and immunostaining. <b><i>Results:<\/i><\/b> We identified two novel mutations in the <i>SLC29A3<\/i> gene: a homozygous splice site mutation IVS1+2T>G predicted to cause a splicing error, and a homozygous missense mutation c.1157G>A (p.R386Q) which substituted highly conserved amino acid residue in a transmembrane domain of hENT3. Furthermore, we demonstrate that hENT3 is expressed in histiocytes as well as in endothelium of blood and lymphatic vessels in normal human skin. <b><i>Conclusions:<\/i><\/b> Our results further enhance the mutation spectrum of the <i>SLC29A3<\/i> gene for this rare genetic disorder, and also suggest potential pathomechanisms for the skin lesions resulting from <i>SLC29A3<\/i> mutations.<\/jats:p>","DOI":"10.1159\/000338886","type":"journal-article","created":{"date-parts":[[2012,5,31]],"date-time":"2012-05-31T03:23:52Z","timestamp":1338434632000},"page":"277-284","source":"Crossref","is-referenced-by-count":22,"title":["Identification of Two Novel Mutations in <b><i>SLC29A3 <\/i><\/b>Encoding an Equilibrative Nucleoside Transporter (hENT3) in Two Distinct Syrian Families with H Syndrome: Expression Studies of <b><i>SLC29A3<\/i><\/b> (hENT3) in Human Skin"],"prefix":"10.1159","volume":"224","author":[{"given":"Muhammad","family":"Farooq","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasha Mohammad","family":"Moustafa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Fujikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ossama","family":"Abbas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul Ghani","family":"Kibbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mazen","family":"Kurban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Shimomura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2012,5,31]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2008.09.013"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M414337200"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1080%2F09687680110033765"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddp161"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pgen.1000833"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038%2Fnature08875"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2F24.17.3439"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2F0022-2836%2891%2990380-O"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2Fnmeth0410-248"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaad.2008.03.021"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jdermsci.2009.09.011"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2133.2010.09653.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pone.0029708"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/338886","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/338886","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T14:23:20Z","timestamp":1745418200000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000338886"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2012,7,1]]},"published-print":{"date-parts":[[2012,7,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000338886","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}