{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T22:11:42Z","timestamp":1785449502968,"version":"3.56.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T00:00:00Z","timestamp":1710547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T00:00:00Z","timestamp":1710547200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100012521","name":"Universitas Gadjah Mada","doi-asserted-by":"publisher","award":["301\/UN1\/FKKMK\/PPKE\/PT\/2022"],"award-info":[{"award-number":["301\/UN1\/FKKMK\/PPKE\/PT\/2022"]}],"id":[{"id":"10.13039\/501100012521","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012521","name":"Universitas Gadjah Mada","doi-asserted-by":"publisher","award":["301\/UN1\/FKKMK\/PPKE\/PT\/2022"],"award-info":[{"award-number":["301\/UN1\/FKKMK\/PPKE\/PT\/2022"]}],"id":[{"id":"10.13039\/501100012521","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012521","name":"Universitas Gadjah Mada","doi-asserted-by":"publisher","award":["301\/UN1\/FKKMK\/PPKE\/PT\/2022"],"award-info":[{"award-number":["301\/UN1\/FKKMK\/PPKE\/PT\/2022"]}],"id":[{"id":"10.13039\/501100012521","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>HSCR is a complex genetic disorder characterized by the absence of ganglion cells in the intestine, leading to a functional obstruction. It is due to a disruption of complex signaling pathways within the gene regulatory network (GRN) during the development of the enteric nervous system (ENS), including <jats:italic>SRY-Box Transcription Factor 10<\/jats:italic> (<jats:italic>SOX10<\/jats:italic>) and <jats:italic>REarranged during Transfection (RET)<\/jats:italic>. This study evaluated the expressions of <jats:italic>SOX10<\/jats:italic> and <jats:italic>RET<\/jats:italic> in HSCR patients in Indonesia.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Total RNA of 19 HSCR ganglionic and aganglionic colons and 16 control colons were analyzed using quantitative real-time polymerase chain reaction for <jats:italic>SOX10<\/jats:italic> and <jats:italic>RET<\/jats:italic> with <jats:italic>GAPDH<\/jats:italic> as the reference gene. Livak\u2019s method (2<jats:sup>\u2212\u0394\u0394C<\/jats:sup><jats:sub>T<\/jats:sub>) was used to determine the expression levels of <jats:italic>SOX10<\/jats:italic> and <jats:italic>RET<\/jats:italic>.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Most patients were males (68.4%), in the short aganglionosis segment (78.9%), and had undergone transanal endorectal pull-through (36.6%). There were significant upregulated <jats:italic>SOX10<\/jats:italic> expressions in both ganglionic (2.84-fold) and aganglionic (3.72-fold) colon of HSCR patients compared to controls\u2019 colon (\u0394C<jats:sub>T<\/jats:sub> 5.21\u2009\u00b1\u20092.04 vs. 6.71\u2009\u00b1\u20091.90; <jats:italic>p<\/jats:italic>\u2009=\u20090.032; and \u0394C<jats:sub>T<\/jats:sub> 4.82\u2009\u00b1\u20091.59 vs. 6.71\u2009\u00b1\u20091.90; <jats:italic>p<\/jats:italic>\u2009=\u20090.003; respectively). Interestingly, the <jats:italic>RET<\/jats:italic> expressions were significantly downregulated in both ganglionic (11.71-fold) and aganglionic (29.96-fold) colon of HSCR patients compared to controls\u2019 colon (\u0394C<jats:sub>T<\/jats:sub> 12.54\u2009\u00b1\u20092.21 vs. 8.99\u2009\u00b1\u20093.13; <jats:italic>p<\/jats:italic>\u2009=\u20090.0004; and \u0394C<jats:sub>T<\/jats:sub> 13.90\u2009\u00b1\u20092.64 vs. 8.99\u2009\u00b1\u20093.13; <jats:italic>p<\/jats:italic>\u2009=\u20090.0001; respectively).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our study shows aberrant <jats:italic>SOX10<\/jats:italic> and <jats:italic>RET<\/jats:italic> expressions in HSCR patients, implying the critical role of <jats:italic>SOX10<\/jats:italic> and <jats:italic>RET<\/jats:italic> in the pathogenesis of HSCR, particularly in the Indonesian population. Our study further confirms the involvement of <jats:italic>SOX10-RET<\/jats:italic> within the GNR during the ENS development.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-024-04682-6","type":"journal-article","created":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T07:02:13Z","timestamp":1710572533000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Aberrant SOX10 and RET expressions in patients with Hirschsprung disease"],"prefix":"10.1186","volume":"24","author":[{"family":"Gunadi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verrell Christopher","family":"Amadeus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadila Dyah Trie","family":"Utami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiqih Vidiantoro","family":"Halim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabilah Anisa","family":"Novebri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahaditya Alrasyidi","family":"Hanggoro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avinindita Nura","family":"Lestari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristy","family":"Iskandar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andi","family":"Dwihantoro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eko","family":"Purnomo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,16]]},"reference":[{"issue":"1","key":"4682_CR1","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1007\/s00383-022-05358-x","volume":"39","author":"CS Tang","year":"2023","unstructured":"Tang CS, Karim A, Zhong Y, Chung PH, Tam PK. 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The research has been performed following the Declaration of Helsinki. All parents or guardians signed written informed consent to participate in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"189"}}