{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:22:29Z","timestamp":1777659749996,"version":"3.51.4"},"reference-count":0,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2009,4,27]],"date-time":"2009-04-27T00:00:00Z","timestamp":1240790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2009,6,1]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">Aim<\/jats:italic>\n                    : Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. A few genes (\n                    <jats:italic toggle=\"yes\">SOX2<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">OTX2<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">RAX<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">CHX10<\/jats:italic>\n                    ) have been implicated in isolated micro\/anophthalmia, but causative mutations of these genes explain less than a quarter of these developmental defects. A specifically conserved SOX2\/OTX2-mediated\n                    <jats:italic toggle=\"yes\">RAX<\/jats:italic>\n                    expression regulatory sequence has recently been identified. We postulated that mutations in this sequence could lead to micro\/anophthalmia, and thus we performed molecular screening of this regulatory element in patients suffering from micro\/anophthalmia.\n                    <jats:italic toggle=\"yes\">Methods<\/jats:italic>\n                    : Fifty-one patients suffering from nonsyndromic microphthalmia (\n                    <jats:italic toggle=\"yes\">n<\/jats:italic>\n                    \u2009=\u200940) or anophthalmia (\n                    <jats:italic toggle=\"yes\">n<\/jats:italic>\n                    \u2009=\u200911) were included in this study after negative molecular screening for\n                    <jats:italic toggle=\"yes\">SOX2<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">OTX2<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">RAX<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">CHX10<\/jats:italic>\n                    mutations. Mutation screening of the\n                    <jats:italic toggle=\"yes\">RAX<\/jats:italic>\n                    regulatory sequence was performed by direct sequencing for these patients.\n                    <jats:italic toggle=\"yes\">Results<\/jats:italic>\n                    : No mutations were identified in the highly conserved\n                    <jats:italic toggle=\"yes\">RAX<\/jats:italic>\n                    regulatory sequence in any of the 51 patients.\n                    <jats:italic toggle=\"yes\">Conclusions<\/jats:italic>\n                    : Mutations in the newly identified\n                    <jats:italic toggle=\"yes\">RAX<\/jats:italic>\n                    regulatory sequence do not represent a frequent cause of nonsyndromic micro\/anophthalmia.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2008.0143","type":"journal-article","created":{"date-parts":[[2009,4,27]],"date-time":"2009-04-27T09:48:38Z","timestamp":1240825718000},"page":"289-290","source":"Crossref","is-referenced-by-count":2,"title":["Mutations in the Newly Identified\n                    <i>RAX<\/i>\n                    Regulatory Sequence Are Not a Frequent Cause of Micro\/Anophthalmia"],"prefix":"10.1177","volume":"13","author":[{"given":"Nicolas","family":"Chassaing","sequence":"first","affiliation":[{"name":"Centre de Physiopathologie de Toulouse Purpan","place":["France"]},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale","place":["France"]},{"name":"Universit\u00e9 Toulouse III Paul-Sabatier","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline","family":"Vigouroux","sequence":"additional","affiliation":[{"name":"Centre de Physiopathologie de Toulouse Purpan","place":["France"]},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Calvas","sequence":"additional","affiliation":[{"name":"Centre de Physiopathologie de Toulouse Purpan","place":["France"]},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale","place":["France"]},{"name":"Universit\u00e9 Toulouse III Paul-Sabatier","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2009,4,27]]},"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2008.0143","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2008.0143","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:20:30Z","timestamp":1777447230000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2008.0143"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,27]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009,6,1]]}},"alternative-id":["10.1089\/gtmb.2008.0143"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2008.0143","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,27]]}}}