{"_buckets": {"deposit": "66984a5d-287d-4665-82c8-cf528b245a40"}, "_deposit": {"id": "2004214", "owners": [1], "pid": {"revision_id": 0, "type": "depid", "value": "2004214"}, "status": "published"}, "_oai": {"id": "oai:nagoya.repo.nii.ac.jp:02004214", "sets": ["1669094631719"]}, "author_link": [], "control_number": "2004214", "item_1615768549627": {"attribute_name": "出版タイプ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_970fb48d4fbd8a85", "subitem_version_type": "VoR"}]}, "item_9_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2022-11", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "4", "bibliographicPageEnd": "876", "bibliographicPageStart": "871", "bibliographicVolumeNumber": "84", "bibliographic_titles": [{"bibliographic_title": "Nagoya Journal of Medical Science", "bibliographic_titleLang": "en"}]}]}, "item_9_description_4": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "Recent advances in molecular and genetic approaches have identified a number of genes responsible for Noonan syndrome (NS). However, there has been limited analysis of the genotype-phenotype correlation of NS patients. Here, we report the case of a Japanese patient with NS possessing a c.853T\u003eC (p.Phe285Leu) mutation in the gene encoding protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11). To clarify genotype-phenotype correlations, the accumulation of data on the clinical course of patients with genetically confirmed NS is important. We summarized the cases with mutations at PTPN11 position 285 and found that c854T\u003eC (p.Phe285Ser) is the most common mutation at this position. In these reports, although little is mentioned about the genotype-phenotype correlation, two patients with NS possessing the PTPN11 c854T\u003eC (p.Phe285Ser) mutation accompanied by chylothorax are described. There is still a lack of detailed information about the phenotype associated with the c.853T\u003eC (p.Phe285Leu) mutation observed in this case. More research is needed to better understand these cases.", "subitem_description_language": "en", "subitem_description_type": "Abstract"}]}, "item_9_identifier_registration": {"attribute_name": "ID登録", "attribute_value_mlt": [{"subitem_identifier_reg_text": "10.18999/nagjms.84.4.871", "subitem_identifier_reg_type": "JaLC"}]}, "item_9_publisher_32": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "Nagoya University Graduate School of Medicine, School of Medicine", "subitem_publisher_language": "en"}]}, "item_9_relation_43": {"attribute_name": "関連情報", "attribute_value_mlt": [{"subitem_relation_type": "isVersionOf", "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/844.html", "subitem_relation_type_select": "URI"}}]}, "item_9_source_id_7": {"attribute_name": "収録物識別子", "attribute_value_mlt": [{"subitem_source_identifier": "0027-7622", "subitem_source_identifier_type": "PISSN"}, {"subitem_source_identifier": "2186-3326", "subitem_source_identifier_type": "EISSN"}]}, "item_access_right": {"attribute_name": "アクセス権", "attribute_value_mlt": [{"subitem_access_right": "open access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_abf2"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Watanabe, Daisuke", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Hasebe, Yohei", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Kasai, Shin", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Shinohara, Tamao", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Maebayashi, Yuki", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Katsumata, Nobuyuki", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Nemoto, Atsushi", "creatorNameLang": "en"}]}, {"creatorNames": [{"creatorName": "Naitoh, Atsushi", "creatorNameLang": "en"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_access", "date": [{"dateType": "Available", "dateValue": "2022-11-24"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "18_Watanabe.pdf", "filesize": [{"value": "6.5 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_5", "mimetype": "application/pdf", "size": 6500000.0, "url": {"objectType": "fulltext", "url": "https://nagoya.repo.nii.ac.jp/record/2004214/files/18_Watanabe.pdf"}, "version_id": "bf8f8d76-8c2e-4626-af5f-ed6e81a85396"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "Noonan syndrome", "subitem_subject_scheme": "Other"}, {"subitem_subject": "chylothorax", "subitem_subject_scheme": "Other"}, {"subitem_subject": "genotype-phenotype", "subitem_subject_scheme": "Other"}, {"subitem_subject": "PTPN11", "subitem_subject_scheme": "Other"}, {"subitem_subject": "c.853T\u003eC (p.Phe285Leu)", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "departmental bulletin paper", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "PTPN11 c.853T\u003eC (p.Phe285Leu) mutation in Noonan syndrome with chylothorax", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "PTPN11 c.853T\u003eC (p.Phe285Leu) mutation in Noonan syndrome with chylothorax", "subitem_title_language": "en"}]}, "item_type_id": "40001", "owner": "1", "path": ["1669094631719"], "permalink_uri": "https://doi.org/10.18999/nagjms.84.4.871", "pubdate": {"attribute_name": "PubDate", "attribute_value": "2022-11-22"}, "publish_date": "2022-11-22", "publish_status": "0", "recid": "2004214", "relation": {}, "relation_version_is_last": true, "title": ["PTPN11 c.853T\u003eC (p.Phe285Leu) mutation in Noonan syndrome with chylothorax"], "weko_shared_id": -1}