{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T06:59:17Z","timestamp":1783148357907,"version":"3.54.6"},"reference-count":12,"publisher":"S. Karger AG","issue":"Suppl. 1","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2000]]},"abstract":"<jats:p>Septo-optic dysplasia (SOD) is a highly variable condition characterized by midline neurological abnormalities associated with pituitary hypoplasia and optic nerve hypoplasia. The aetiology is unknown. Mutant mice, in which a novel homeobox gene, &lt;i&gt;Hesx1&lt;\/i&gt;, has been disrupted, exhibit a phenotype that resembles the phenotype of SOD. We therefore wished to explore the possibility that this gene is implicated in SOD. We cloned and sequenced the human homologue &lt;i&gt;HESX1&lt;\/i&gt; and screened for mutations in affected individuals using single-stranded conformational polymorphism analysis, followed by cloning and sequencing of any exons which showed a band shift. Two siblings with SOD were homozygous for an Arg53Cys missense mutation within the HESX1 homeodomain, leading to a loss of in vitro DNA binding. Subsequently, we have identified heterozygous mutations in &lt;i&gt;HESX1&lt;\/i&gt; that are associated with milder pituitary phenotypes. Our studies indicate a vital role for &lt;i&gt;Hesx1&lt;\/i&gt;\/&lt;i&gt;HESX1&lt;\/i&gt; in forebrain and pituitary development in mouse and man, and hence in some cases of SOD.<\/jats:p>","DOI":"10.1159\/000053201","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T19:06:15Z","timestamp":1050433575000},"page":"26-33","source":"Crossref","is-referenced-by-count":15,"title":["Molecular Genetics of Septo-Optic Dysplasia"],"prefix":"10.1159","volume":"53","author":[{"given":"Mehul T.","family":"Dattani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan-Pedro","family":"Martinez-Barbera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul Q.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua M.","family":"Brickman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajeev","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy K.H.","family":"Wales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter C.","family":"Hindmarsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa S.P.","family":"Beddington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iain C.A.F.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2004,11,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/477"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1426"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/355637a0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/355635a0"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-417"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-147"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.8.3869"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1126\/science.278.5344.1809"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.15.7706"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/347528a0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/384327a0"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/53201","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/53201","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:21:09Z","timestamp":1745468469000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000053201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000]]},"references-count":12,"journal-issue":{"issue":"Suppl. 1","published-online":{"date-parts":[[2000,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000053201","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000]]}}}