{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:38:42Z","timestamp":1791272322325,"version":"4.1.0"},"reference-count":30,"publisher":"National Academy of Sciences","issue":"9","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1998,4,28]]},"abstract":"<jats:p>\n                    The spontaneous mouse mutant\n                    <jats:italic>Dominant megacolon<\/jats:italic>\n                    (\n                    <jats:italic>Dom<\/jats:italic>\n                    ) is a valuable model for the study of human congenital megacolon (Hirschsprung disease). Here we report that the defect in the\n                    <jats:italic>Dom<\/jats:italic>\n                    mouse is caused by mutation of the gene encoding the Sry-related transcription factor Sox10. This assignment is based on (\n                    <jats:italic>i<\/jats:italic>\n                    ) colocalization of the\n                    <jats:italic>Sox10<\/jats:italic>\n                    gene with the\n                    <jats:italic>Dom<\/jats:italic>\n                    mutation on chromosome 15; (\n                    <jats:italic>ii<\/jats:italic>\n                    ) altered\n                    <jats:italic>Sox10<\/jats:italic>\n                    expression in the gut and in neural-crest derived structures of cranial ganglia of\n                    <jats:italic>Dom<\/jats:italic>\n                    mice; (\n                    <jats:italic>iii<\/jats:italic>\n                    ) presence of a frameshift in the Sox10 coding region, and (\n                    <jats:italic>iv<\/jats:italic>\n                    ) functional inactivation of the resulting truncated protein. These results identify the transcriptional regulator Sox10 as an essential factor in mouse neural crest development and as a further candidate gene for human Hirschsprung disease, especially in cases where it is associated with features of Waardenburg syndrome.\n                  <\/jats:p>","DOI":"10.1073\/pnas.95.9.5161","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:31:44Z","timestamp":1027679504000},"page":"5161-5165","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":328,"title":["Mutation of the Sry-related\n                    <i>Sox10<\/i>\n                    gene in\n                    <i>Dominant megacolon<\/i>\n                    , a mouse model for human Hirschsprung disease"],"prefix":"10.1073","volume":"95","author":[{"given":"Beate","family":"Herbarth","sequence":"first","affiliation":[{"name":"Zentrum f\u00fcr Molekulare Neurobiologie, Universit\u00e4t Hamburg, 20246 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