{"created":"2024-12-16T00:31:44.384555+00:00","id":2001575,"links":{},"metadata":{"_buckets":{"deposit":"65a195c4-c662-4799-9b37-beb2b40678dd"},"_deposit":{"created_by":10,"id":"2001575","owners":[10],"pid":{"revision_id":0,"type":"depid","value":"2001575"},"status":"published"},"_oai":{"id":"oai:repository.lib.tottori-u.ac.jp:02001575","sets":["1:9","2:12"]},"author_link":["4980","2857","4943"],"item_30002_access_rights4":{"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_30002_bibliographic_information29":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicPageEnd":"208","bibliographicPageStart":"204","bibliographicVolumeNumber":"13","bibliographic_titles":[{"bibliographic_title":"CEN case reports","bibliographic_titleLang":"en"}]}]},"item_30002_creator2":{"attribute_name":"作成者","attribute_type":"creator","attribute_value_mlt":[{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"15101","affiliationNameIdentifierScheme":"kakenhi"}],"affiliationNames":[{"affiliationName":"鳥取大学","affiliationNameLang":"ja"},{"affiliationName":"Tottori University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"山田,祐子","creatorNameLang":"ja","creatorNameType":"Personal"},{"creatorName":"Yamada,Yuko","creatorNameLang":"en","creatorNameType":"Personal"},{"creatorName":"ヤマダ,ユウコ","creatorNameLang":"ja-Kana","creatorNameType":"Personal"}],"familyNames":[{"familyName":"山田","familyNameLang":"ja"},{"familyName":"Yamada","familyNameLang":"en"},{"familyName":"ヤマダ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"祐子","givenNameLang":"ja"},{"givenName":"Yuko","givenNameLang":"en"},{"givenName":"ユウコ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"4980","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"100002198","nameIdentifierScheme":"研究者総覧鳥取大学","nameIdentifierURI":"http://researchers.adm.tottori-u.ac.jp/html/100002198ja.html"},{"nameIdentifier":"0","nameIdentifierScheme":"e-Rad_Researcher","nameIdentifierURI":"https://kaken.nii.ac.jp/ja/search/?qm=0"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"15101","affiliationNameIdentifierScheme":"kakenhi"}],"affiliationNames":[{"affiliationName":"鳥取大学","affiliationNameLang":"ja"},{"affiliationName":"Tottori University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Yokoyama,Hiroki","creatorNameLang":"en","creatorNameType":"Personal"}],"familyNames":[{"familyName":"Yokoyama","familyNameLang":"en"}],"givenNames":[{"givenName":"Hiroki","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kinoshita,Ryo","creatorNameLang":"en","creatorNameType":"Personal"}],"familyNames":[{"familyName":"Kinoshita","familyNameLang":"en"}],"givenNames":[{"givenName":"Ryo","givenNameLang":"en"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"15101","affiliationNameIdentifierScheme":"kakenhi"}],"affiliationNames":[{"affiliationName":"鳥取大学","affiliationNameLang":"ja"},{"affiliationName":"Tottori University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Kitamoto,Koichi","creatorNameLang":"en","creatorNameType":"Personal"}],"familyNames":[{"familyName":"Kitamoto","familyNameLang":"en"}],"givenNames":[{"givenName":"Koichi","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Kawaba,Yasuo","creatorNameLang":"ja","creatorNameType":"Personal"},{"creatorName":"Kawaba,Yasuo","creatorNameLang":"en","creatorNameType":"Personal"},{"creatorName":"カワバ,ヤスオ","creatorNameLang":"ja-Kana","creatorNameType":"Personal"}],"familyNames":[{"familyName":"Kawaba","familyNameLang":"ja"},{"familyName":"Kawaba","familyNameLang":"en"},{"familyName":"カワバ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"Yasuo","givenNameLang":"ja"},{"givenName":"Yasuo","givenNameLang":"en"},{"givenName":"ヤスオ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"0","nameIdentifierScheme":"研究者総覧鳥取大学","nameIdentifierURI":"http://researchers.adm.tottori-u.ac.jp/html/0ja.html"},{"nameIdentifier":"0","nameIdentifierScheme":"e-Rad_Researcher","nameIdentifierURI":"https://kaken.nii.ac.jp/ja/search/?qm=0"}]},{"creatorNames":[{"creatorName":"岡田,晋一","creatorNameLang":"ja","creatorNameType":"Personal"},{"creatorName":"Okada,Shinichi","creatorNameLang":"en","creatorNameType":"Personal"},{"creatorName":"オカダ,シンイチ","creatorNameLang":"ja-Kana","creatorNameType":"Personal"}],"familyNames":[{"familyName":"岡田","familyNameLang":"ja"},{"familyName":"Okada","familyNameLang":"en"},{"familyName":"オカダ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"晋一","givenNameLang":"ja"},{"givenName":"Shinichi","givenNameLang":"en"},{"givenName":"シンイチ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"2857","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"100000112","nameIdentifierScheme":"研究者総覧鳥取大学","nameIdentifierURI":"http://researchers.adm.tottori-u.ac.jp/html/100000112ja.html"},{"nameIdentifier":"50343281","nameIdentifierScheme":"e-Rad_Researcher","nameIdentifierURI":"https://kaken.nii.ac.jp/ja/search/?qm=50343281"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"15101","affiliationNameIdentifierScheme":"kakenhi"}],"affiliationNames":[{"affiliationName":"鳥取大学","affiliationNameLang":"ja"},{"affiliationName":"Tottori University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"Horie,Takashi","creatorNameLang":"en","creatorNameType":"Personal"}],"familyNames":[{"familyName":"Horie","familyNameLang":"en"}],"givenNames":[{"givenName":"Takashi","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nagano,China","creatorNameLang":"en","creatorNameType":"Personal"}],"familyNames":[{"familyName":"Nagano","familyNameLang":"en"}],"givenNames":[{"givenName":"China","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nozu,Kandai","creatorNameLang":"en","creatorNameType":"Personal"}],"familyNames":[{"familyName":"Nozu","familyNameLang":"en"}],"givenNames":[{"givenName":"Kandai","givenNameLang":"en"}]},{"creatorAffiliations":[{"affiliationNameIdentifiers":[{"affiliationNameIdentifier":"15101","affiliationNameIdentifierScheme":"kakenhi"}],"affiliationNames":[{"affiliationName":"鳥取大学","affiliationNameLang":"ja"},{"affiliationName":"Tottori University","affiliationNameLang":"en"}]}],"creatorNames":[{"creatorName":"難波,範行","creatorNameLang":"ja","creatorNameType":"Personal"},{"creatorName":"Namba,Noriyuki","creatorNameLang":"en","creatorNameType":"Personal"},{"creatorName":"ナンバ,ノリユキ","creatorNameLang":"ja-Kana","creatorNameType":"Personal"}],"familyNames":[{"familyName":"難波","familyNameLang":"ja"},{"familyName":"Namba","familyNameLang":"en"},{"familyName":"ナンバ","familyNameLang":"ja-Kana"}],"givenNames":[{"givenName":"範行","givenNameLang":"ja"},{"givenName":"Noriyuki","givenNameLang":"en"},{"givenName":"ノリユキ","givenNameLang":"ja-Kana"}],"nameIdentifiers":[{"nameIdentifier":"4943","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"100002101","nameIdentifierScheme":"研究者総覧鳥取大学","nameIdentifierURI":"http://researchers.adm.tottori-u.ac.jp/html/100002101ja.html"},{"nameIdentifier":"10379076","nameIdentifierScheme":"e-Rad_Researcher","nameIdentifierURI":"https://kaken.nii.ac.jp/ja/search/?qm=10379076"}]}]},"item_30002_date11":{"attribute_name":"日付","attribute_value_mlt":[{"subitem_date_issued_datetime":"2023-10-28","subitem_date_issued_type":"Issued"}]},"item_30002_description9":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"Paired box protein 2 (PAX2) gene variant causes renal coloboma syndrome (MIM#120330). Further, they are associated with focal segmental glomerulosclerosis and characterized by basement membrane changes similar to Alport syndrome.Herein, we report an 8-year-old boy who presented with proteinuria and decreased renal function. His paternal uncle has focal segmental glomerulosclerosis and renal failure, and his paternal grandmother has renal failure and is receiving peritoneal dialysis. Further, his father has stage 2 chronic kidney disease. At 3 years of age, his serum creatinine-estimated glomerular filtration rate was 40-50 mL/min/1.73 m2. At 8 years of age, his renal function further decreased and he had proteinuria (urinary protein/Cr 3.39 g/g Cr). Renal histopathology showed oligonephronia and focal segmental glomerulosclerosis. A partial basket-weave pattern, similar to Alport syndrome, was also observed on a transmission electron microscope, and low-vacuum scanning electron microscopy revealed coarse meshwork changes in the glomerular basement membrane. Genetic analysis revealed a PAX2 heterozygous variant (NM_003987.4:c.959C  >  G), a nonsense variant in which the serine at position 320 changes to a stop codon, in our patient and his father. PAX2 is a transcription factor that is important for the podocyte variant. However, podocytes with PAX2 gene variants may cause abnormal basement membrane production and repair, thereby resulting in Alport-like changes.","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_30002_file35":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2023-10-28"}],"displaytype":"detail","fileDate":[{"fileDateType":"Issued","fileDateValue":"2023-10-28"}],"filename":"cencr13(3)_204.pdf","filesize":[{"value":"1.2 MB"}],"format":"application/pdf","licensetype":"license_0","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://repository.lib.tottori-u.ac.jp/record/2001575/files/cencr13(3)_204.pdf"},"version_id":"b9f939d8-a60f-4c1d-8805-9c41cfa4c139"}]},"item_30002_language12":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_30002_page_end28":{"attribute_name":"終了ページ","attribute_value_mlt":[{"subitem_end_page":"208"}]},"item_30002_page_start27":{"attribute_name":"開始ページ","attribute_value_mlt":[{"subitem_start_page":"204"}]},"item_30002_publisher10":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":" Springer Nature","subitem_publisher_language":"en"}]},"item_30002_relation18":{"attribute_name":"関連情報","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1007/s13730-023-00830-6","subitem_relation_type_select":"DOI"}}]},"item_30002_resource_type13":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_30002_rights6":{"attribute_name":"権利情報","attribute_value_mlt":[{"subitem_rights":"(C) The Author(s) 2023. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.","subitem_rights_language":"en"}]},"item_30002_source_identifier22":{"attribute_name":"収録物識別子","attribute_value_mlt":[{"subitem_source_identifier":"21924449","subitem_source_identifier_type":"EISSN"}]},"item_30002_source_title23":{"attribute_name":"収録物名","attribute_value_mlt":[{"subitem_source_title":"CEN case reports","subitem_source_title_language":"en"}]},"item_30002_subject8":{"attribute_name":"主題","attribute_value_mlt":[{"subitem_subject":"PAX2","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Focal segmental glomerulosclerosis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Glomerular basement membrane","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Alport-like","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_30002_title0":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant","subitem_title_language":"en"}]},"item_30002_volume_number24":{"attribute_name":"巻","attribute_value_mlt":[{"subitem_volume":"13"}]},"item_title":"Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant","item_type_id":"30002","owner":"10","path":["12","9"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2024-12-25"},"publish_date":"2024-12-25","publish_status":"0","recid":"2001575","relation_version_is_last":true,"title":["Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant"],"weko_creator_id":"10","weko_shared_id":-1},"updated":"2024-12-26T08:36:13.892607+00:00"}