{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:25:44Z","timestamp":1781108744676,"version":"3.54.1"},"reference-count":50,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gut"],"accepted":{"date-parts":[[2001,1,29]]},"published-print":{"date-parts":[[2001,8,1]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>\n                      The primary pathology of Hirschsprung's disease (HD) is a congenital absence of ganglion cells in the caudal most gut. The spastic aganglionic bowel is often innervated by a network of hypertrophied nerve fibres. Recently, mutations of\n                      <jats:italic>SOX10<\/jats:italic>\n                      have been identified in patients with HD but only in those with Waardenburg-Shah syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>AIMS<\/jats:title>\n                    <jats:p>\n                      To understand the molecular basis for the pathogenesis of HD we intended to determine the specific cell lineages in the enteric nervous system which normally express\n                      <jats:italic>SOX10<\/jats:italic>\n                      but are affected in disease conditions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec sec-type=\"methods\">\n                    <jats:title>METHODS<\/jats:title>\n                    <jats:p>\n                      We studied colon biopsies from 10 non-syndromic HD patients, aged three months to four years, and 10 age matched patients without HD as normal controls. The absence of mutation in the\n                      <jats:italic>SOX10<\/jats:italic>\n                      gene of HD patients was confirmed by DNA sequencing. Expression and cellular distribution of\n                      <jats:italic>SOX10<\/jats:italic>\n                      in bowel segments of normal and HD infants were examined by reverse transcription-polymerase chain reaction and in situ hybridisation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS<\/jats:title>\n                    <jats:p>\n                      We found that in normal infants and normoganglionic bowel segments of HD patients,\n                      <jats:italic>SOX10<\/jats:italic>\n                      was expressed in both neurones and glia of the enteric plexuses and in the nerves among the musculature in normal colon. In the aganglionic bowel segments of patients,\n                      <jats:italic>SOX10<\/jats:italic>\n                      expression was consistently lower and was found to be associated with the hypertrophic nerve trunks in the muscle and extrinsic nerves in the serosa.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSION<\/jats:title>\n                    <jats:p>\n                      We conclude that\n                      <jats:italic>SOX10<\/jats:italic>\n                      is normally required postnatally in the functional maintenance of the entire enteric nervous system, including neurones and glia. In non-syndromic HD patients who do not have the\n                      <jats:italic>SOX10<\/jats:italic>\n                      mutation, the\n                      <jats:italic>SOX10<\/jats:italic>\n                      gene expressed in the sacral region may be involved in the pathogenesis of the abnormal nerve trunks through interaction with other factors.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/gut.49.2.220","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:37:59Z","timestamp":1027751879000},"page":"220-226","source":"Crossref","is-referenced-by-count":35,"title":["<i>SOX10<\/i>\n                    is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants"],"prefix":"10.1136","volume":"49","author":[{"given":"M H","family":"Sham","sequence":"first","affiliation":[{"name":"aDivision of Paediatric Surgery, Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong, China, \n\nbDepartment of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V C H","family":"Lui","sequence":"additional","affiliation":[{"name":"aDivision of Paediatric Surgery, Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong, China, \n\nbDepartment of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Fu","sequence":"additional","affiliation":[{"name":"aDivision of Paediatric Surgery, Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong, China, \n\nbDepartment of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Chen","sequence":"additional","affiliation":[{"name":"aDivision of Paediatric Surgery, Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong, China, \n\nbDepartment of 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