{"@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/1360285711506108672.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1164/rccm.201804-0766le"}},{"identifier":{"@type":"URI","@value":"https://www.atsjournals.org/doi/pdf/10.1164/rccm.201804-0766LE"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"<i>SOX17</i>\n                    Mutations in Japanese Patients with Pulmonary Arterial Hypertension"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1420845751159681024","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"20445208"},{"@type":"NRID","@value":"1000020445208"},{"@type":"NRID","@value":"9000004235833"},{"@type":"NRID","@value":"9000005495733"},{"@type":"NRID","@value":"9000020155256"},{"@type":"NRID","@value":"9000383709195"},{"@type":"NRID","@value":"9000403988969"}],"foaf:name":[{"@value":"Masaharu Kataoka"}],"jpcoar:affiliationName":[{"@value":"Keio University School of MedicineTokyo, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285711506108678","@type":"Researcher","foaf:name":[{"@value":"Shinobu Gamou"}],"jpcoar:affiliationName":[{"@value":"Keio University School of MedicineTokyo, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1420845751160369792","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"30234743"},{"@type":"NRID","@value":"1000030234743"},{"@type":"J_GLOBAL","@value":"200901054219667524"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/read0163965"},{"@type":"JGPN","@value":"200901100514574211"},{"@type":"NRID","@value":"9000401563635"},{"@type":"NRID","@value":"9000010010828"},{"@type":"NRID","@value":"9000018281827"},{"@type":"NRID","@value":"9000347188975"},{"@type":"NRID","@value":"9000283362888"},{"@type":"NRID","@value":"9000016989874"},{"@type":"NRID","@value":"9000253395774"},{"@type":"NRID","@value":"9000257801789"},{"@type":"NRID","@value":"9000241506078"},{"@type":"NRID","@value":"9000002099778"},{"@type":"NRID","@value":"9000401563446"},{"@type":"NRID","@value":"9000399539616"},{"@type":"NRID","@value":"9000256569433"},{"@type":"NRID","@value":"9000009633570"},{"@type":"NRID","@value":"9000338425467"},{"@type":"NRID","@value":"9000363248770"},{"@type":"NRID","@value":"9000411760302"},{"@type":"NRID","@value":"9000404789875"},{"@type":"NRID","@value":"9000351064786"},{"@type":"NRID","@value":"9000007878756"},{"@type":"NRID","@value":"9000411760306"},{"@type":"NRID","@value":"9000401562451"},{"@type":"NRID","@value":"9000275823725"},{"@type":"NRID","@value":"9000398776077"},{"@type":"NRID","@value":"9000398645441"},{"@type":"NRID","@value":"9000010456466"},{"@type":"NRID","@value":"9000389555531"},{"@type":"NRID","@value":"9000401559449"},{"@type":"NRID","@value":"9000399811091"},{"@type":"NRID","@value":"9000018778761"},{"@type":"NRID","@value":"9000413471623"},{"@type":"NRID","@value":"9000399539650"},{"@type":"NRID","@value":"9000309999444"},{"@type":"NRID","@value":"9000338424111"},{"@type":"NRID","@value":"9000397808793"},{"@type":"NRID","@value":"9000401559625"},{"@type":"NRID","@value":"9000411760310"},{"@type":"NRID","@value":"9000370755041"},{"@type":"NRID","@value":"9000401560068"},{"@type":"NRID","@value":"9000406384256"},{"@type":"NRID","@value":"9000257800360"},{"@type":"NRID","@value":"9000362193628"},{"@type":"NRID","@value":"9000399800491"}],"foaf:name":[{"@value":"Kenjiro Kosaki"}],"jpcoar:affiliationName":[{"@value":"Keio University School of MedicineTokyo, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285711506108676","@type":"Researcher","foaf:name":[{"@value":"Tomohiro Chiba"}],"jpcoar:affiliationName":[{"@value":"Kyorin University School of MedicineTokyo, Japanand"}]},{"@id":"https://cir.nii.ac.jp/crid/1070001202548632064","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000333078409"},{"@type":"NRID","@value":"9000413471620"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/h-i-s"}],"foaf:name":[{"@value":"Hisato Suzuki"}],"jpcoar:affiliationName":[{"@value":"Keio University School of MedicineTokyo, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285711506108544","@type":"Researcher","foaf:name":[{"@value":"Takahiro Hiraide"}],"jpcoar:affiliationName":[{"@value":"Keio University School of MedicineTokyo, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285711506108673","@type":"Researcher","foaf:name":[{"@value":"Yuki Aimi"}],"jpcoar:affiliationName":[{"@value":"Kyorin University School of MedicineTokyo, Japanand"}]},{"@id":"https://cir.nii.ac.jp/crid/1420845751147482624","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"10508568"},{"@type":"NRID","@value":"1000010508568"},{"@type":"NRID","@value":"9000015787469"},{"@type":"NRID","@value":"9000412246072"},{"@type":"NRID","@value":"9000324647086"},{"@type":"NRID","@value":"9000415434178"},{"@type":"NRID","@value":"9000411586037"},{"@type":"NRID","@value":"9000397863875"},{"@type":"NRID","@value":"9000402268573"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/10508568"}],"foaf:name":[{"@value":"Kohsuke Kanekura"}],"jpcoar:affiliationName":[{"@value":"Tokyo Medical UniversityTokyo, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285711506108672","@type":"Researcher","foaf:name":[{"@value":"Toru Satoh"}],"jpcoar:affiliationName":[{"@value":"Kyorin University School of MedicineTokyo, Japanand"}]},{"@id":"https://cir.nii.ac.jp/crid/1380285711506108675","@type":"Researcher","foaf:name":[{"@value":"Keiichi Fukuda"}],"jpcoar:affiliationName":[{"@value":"Keio University School of MedicineTokyo, Japan"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"1073449X"},{"@type":"EISSN","@value":"15354970"}],"prism:publicationName":[{"@value":"American Journal of Respiratory and Critical Care Medicine"}],"dc:publisher":[{"@value":"Oxford University Press (OUP)"}],"prism:publicationDate":"2018-11-01","prism:volume":"198","prism:number":"9","prism:startingPage":"1231","prism:endingPage":"1233"},"reviewed":"false","url":[{"@id":"https://www.atsjournals.org/doi/pdf/10.1164/rccm.201804-0766LE"}],"createdAt":"2018-07-25","modifiedAt":"2026-01-05","project":[{"@id":"https://cir.nii.ac.jp/crid/1040000781901007232","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"16H05303"},{"@type":"JGN","@value":"JP16H05303"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-16H05303/"}],"notation":[{"@language":"ja","@value":"全国患者サンプルネットワーク構築を通じた肺高血圧症の病態解明と個別化医療の実現"},{"@language":"en","@value":"Elucidation of pathophysiology and realization of personalized medicine through construction of national patient sample network in pulmonary hyeprtension"}]},{"@id":"https://cir.nii.ac.jp/crid/1040000781902475648","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"16H06247"},{"@type":"JGN","@value":"JP16H06247"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-16H06247/"}],"notation":[{"@language":"ja","@value":"オミクス技術を駆使した包括的ALS 治療戦略の確立"},{"@language":"en","@value":"Establishment of ALS treatment strategy using Multi-omics technology"}]},{"@id":"https://cir.nii.ac.jp/crid/1040000782000545792","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"18K08154"},{"@type":"JGN","@value":"JP18K08154"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18K08154/"}],"notation":[{"@language":"ja","@value":"難病疾患肺動脈性肺高血圧症の新規発症感受性遺伝子の同定と機能解析"},{"@language":"en","@value":"Identification and functional analysis of novel susceptibility genes for the development of pulmonary arterial hypertension"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282256810416000","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"15H05665"},{"@type":"JGN","@value":"JP15H05665"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15H05665/"}],"notation":[{"@language":"ja","@value":"日本最大検体ライブラリーを通じた肺高血圧症のエピジェネティクス病態機構の解明"},{"@language":"en","@value":"Clarification of epigenetic pathological mechanisms in pulmonary hypertension through Japanese high-volume sample library"}]},{"@id":"https://cir.nii.ac.jp/crid/1040282256949591552","@type":"Project","projectIdentifier":[{"@type":"KAKEN","@value":"17K15782"},{"@type":"JGN","@value":"JP17K15782"},{"@type":"URI","@value":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17K15782/"}],"notation":[{"@language":"ja","@value":"難病疾患肺動脈性肺高血圧症の発症原因遺伝子の新規同定と機能解析"},{"@language":"en","@value":"Novel identification and functional analysis of the causative genes in pulmonary arterial hypertension"}]}],"relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360011145987641728","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Sox17 promotes tumor angiogenesis and destabilizes tumor vessels in mice"}]},{"@id":"https://cir.nii.ac.jp/crid/1360301164102543488","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects"}]},{"@id":"https://cir.nii.ac.jp/crid/1360306504593453312","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease"}]},{"@id":"https://cir.nii.ac.jp/crid/1360574094422868480","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Novel<i>SOX17</i>frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations"}]},{"@id":"https://cir.nii.ac.jp/crid/1360855570003428608","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Identification of rare sequence variation underlying heritable pulmonary arterial hypertension"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825893934839552","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Redundant roles of<i>Sox17</i>and<i>Sox18</i>in postnatal angiogenesis in mice"}]},{"@id":"https://cir.nii.ac.jp/crid/1362825896142433536","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Sox17 is required for normal pulmonary vascular morphogenesis"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107369202793216","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Notch Pathway Targets Proangiogenic Regulator Sox17 to Restrict Angiogenesis"}]},{"@id":"https://cir.nii.ac.jp/crid/1363107369324217088","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Sox17 is indispensable for acquisition and maintenance of arterial identity"}]},{"@id":"https://cir.nii.ac.jp/crid/1363670321177705216","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract"}]},{"@id":"https://cir.nii.ac.jp/crid/1363951795010180864","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"Redundant roles of Sox17 and Sox18 in early cardiovascular development of mouse embryos"}]},{"@id":"https://cir.nii.ac.jp/crid/1364233269749223552","@type":"Article","relationType":["references"],"jpcoar:relatedTitle":[{"@value":"<i>TBX4</i> mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension"}]},{"@id":"https://cir.nii.ac.jp/crid/1390288215573618944","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"SOX17 Loss-of-Function Mutation Underlying Familial Pulmonary Arterial Hypertension"}]},{"@id":"https://cir.nii.ac.jp/crid/1390583790035503744","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"JCS/JCC/JSPCCS 2024 Guideline on Genetic Testing and Counseling in Cardiovascular Disease"},{"@value":"Japanese College of Cardiology, Japanese Society of Pediatric Cardiology and Cardiac Surgery Joint Working Group. JCS/JCC/JSPCCS 2024 guideline on genetic testing and counseling in cardiovascular disease"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1164/rccm.201804-0766le"},{"@type":"KAKEN","@value":"PRODUCT-22310573"},{"@type":"KAKEN","@value":"PRODUCT-22155734"},{"@type":"KAKEN","@value":"PRODUCT-22112172"},{"@type":"KAKEN","@value":"PRODUCT-22541778"},{"@type":"KAKEN","@value":"PRODUCT-22372700"},{"@type":"OPENAIRE","@value":"doi_dedup___::cedacd9473cd701f354ed0dd14d024d2"},{"@type":"CROSSREF","@value":"10.1536/ihj.20-711_references_DOI_B4MqNomwPrXBqkLbCSoYHEW3Ij8"},{"@type":"CROSSREF","@value":"10.1253/circj.cj-23-0926_references_DOI_B4MqNomwPrXBqkLbCSoYHEW3Ij8"},{"@type":"CROSSREF","@value":"10.3390/jcdd10080333_references_DOI_B4MqNomwPrXBqkLbCSoYHEW3Ij8"},{"@type":"CROSSREF","@value":"10.1016/j.jjcc.2024.10.002_references_DOI_B4MqNomwPrXBqkLbCSoYHEW3Ij8"}]}