{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1362825895267301632.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1073/pnas.95.9.5161"}},{"identifier":{"@type":"URI","@value":"https://pnas.org/doi/pdf/10.1073/pnas.95.9.5161"}},{"identifier":{"@type":"NAID","@value":"80010325289"}}],"dc:title":[{"@value":"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"}],"description":[{"type":"abstract","notation":[{"@value":"<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>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380579816434901637","@type":"Researcher","foaf:name":[{"@value":"Beate Herbarth"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1380579816434901634","@type":"Researcher","foaf:name":[{"@value":"Veronique Pingault"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1380579816434901633","@type":"Researcher","foaf:name":[{"@value":"Nadege Bondurand"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1380579816434901635","@type":"Researcher","foaf:name":[{"@value":"Kirsten Kuhlbrodt"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1380579816434901636","@type":"Researcher","foaf:name":[{"@value":"Irm Hermans-Borgmeyer"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1380579816434901640","@type":"Researcher","foaf:name":[{"@value":"Aldamaria Puliti"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1380579816434901639","@type":"Researcher","foaf:name":[{"@value":"Nicole Lemort"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1380579816434901632","@type":"Researcher","foaf:name":[{"@value":"Michel Goossens"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]},{"@id":"https://cir.nii.ac.jp/crid/1380579816434901638","@type":"Researcher","foaf:name":[{"@value":"Michael Wegner"}],"jpcoar:affiliationName":[{"@value":"Zentrum für Molekulare Neurobiologie, Universität Hamburg, 20246 Hamburg, Germany; and Institut National de la Santé et de la Recherche Médicale, U468, Hôpital Henri Mondor, 94010 Créteil, France"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00278424"},{"@type":"EISSN","@value":"10916490"}],"prism:publicationName":[{"@value":"Proceedings of the National Academy of Sciences"}],"dc:publisher":[{"@value":"Proceedings of the National Academy of Sciences"}],"prism:publicationDate":"1998-04-28","prism:volume":"95","prism:number":"9","prism:startingPage":"5161","prism:endingPage":"5165"},"reviewed":"false","url":[{"@id":"https://pnas.org/doi/pdf/10.1073/pnas.95.9.5161"}],"createdAt":"2002-07-26","modifiedAt":"2022-06-07","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004232387377152","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH"}]},{"@id":"https://cir.nii.ac.jp/crid/1360283694362699136","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Distinct interactions of Sox5 and Sox10 in fate specification of pigment cells in medaka and zebrafish"}]},{"@id":"https://cir.nii.ac.jp/crid/1360285705066023168","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Neural crest cells retain their capability for multipotential differentiation even after lineage‐restricted stages"}]},{"@id":"https://cir.nii.ac.jp/crid/1360285710524354432","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Pediatric case report: Clinical profile of a patient with <scp>PCWH</scp> with p.<scp>Q</scp>377<scp>X</scp> nonsense mutation in the <i><scp>SOX</scp>10</i> gene"}]},{"@id":"https://cir.nii.ac.jp/crid/1360294643768657792","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Insights into olfactory ensheathing cell development from a laser‐microdissection and transcriptome‐profiling approach"}]},{"@id":"https://cir.nii.ac.jp/crid/1360565167098704256","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Master Regulator for Chondrogenesis, Sox9, Regulates Transcriptional Activation of the Endoplasmic Reticulum Stress Transducer BBF2H7/CREB3L2 in Chondrocytes"}]},{"@id":"https://cir.nii.ac.jp/crid/1360567182130195328","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Tracing Sox10-expressing cells elucidates the dynamic development of the mouse inner ear"}]},{"@id":"https://cir.nii.ac.jp/crid/1522825129984154240","@type":"Article","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@value":"cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18"},{"@language":"ja-Kana","@value":"cDNA cloning tissue expression and chromosome mapping of human homolog of SOX18"}]},{"@id":"https://cir.nii.ac.jp/crid/1570009750102102912","@type":"Article","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Genetic basis of Hirschsprung's disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1571135650842013568","@type":"Article","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Tissue culture methods to study neurological disorders : Establishment of immortalized Schwann cells from murine disease models"}]},{"@id":"https://cir.nii.ac.jp/crid/1571135651242835456","@type":"Article","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Animal models in pediatric surgery"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1073/pnas.95.9.5161"},{"@type":"CIA","@value":"80010325289"},{"@type":"CROSSREF","@value":"10.1016/j.heares.2013.05.003_references_DOI_NpwRoFPT4AaGjJjGqfCbnlx45Tg"},{"@type":"CROSSREF","@value":"10.1371/journal.pgen.1007260_references_DOI_NpwRoFPT4AaGjJjGqfCbnlx45Tg"},{"@type":"CROSSREF","@value":"10.1002/dvdy.22658_references_DOI_NpwRoFPT4AaGjJjGqfCbnlx45Tg"},{"@type":"CROSSREF","@value":"10.1111/j.1346-8138.2012.01671.x_references_DOI_NpwRoFPT4AaGjJjGqfCbnlx45Tg"},{"@type":"CROSSREF","@value":"10.1002/glia.23870_references_DOI_NpwRoFPT4AaGjJjGqfCbnlx45Tg"},{"@type":"CROSSREF","@value":"10.1074/jbc.m113.543322_references_DOI_NpwRoFPT4AaGjJjGqfCbnlx45Tg"},{"@type":"CROSSREF","@value":"10.1016/j.nbd.2015.04.013_references_DOI_NpwRoFPT4AaGjJjGqfCbnlx45Tg"}]}