{"created":"2023-07-25T10:24:41.098187+00:00","id":4742,"links":{},"metadata":{"_buckets":{"deposit":"58286d88-c09c-4e4a-8110-14ae5fd66110"},"_deposit":{"created_by":18,"id":"4742","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"4742"},"status":"published"},"_oai":{"id":"oai:air.repo.nii.ac.jp:00004742","sets":["611:862:863:1361"]},"author_link":["14088","14086","14087"],"item_10001_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-03-30","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3","bibliographicPageEnd":"106","bibliographicPageStart":"99","bibliographicVolumeNumber":"46","bibliographic_titles":[{"bibliographic_title":"秋田医学"},{"bibliographic_title":"AKITA JOURNAL OF MEDICINE(AKITA IGAKU)","bibliographic_titleLang":"en"}]}]},"item_10001_description_5":{"attribute_name":"内容記述（抄録）","attribute_value_mlt":[{"subitem_description":"Dent's disease is an X-linked renal tubulopathy characterized by clinical features such as low molecular weight (LMW) proteinuria, hypercalciuria, and progressive renal failure. In Dent's disease, reabsorption of glomerulus-filtered LMW protein in the proximal tubular cells is decreased due to a malfunction of cellular endocytosis caused either by mutation in the Cl⁻/H⁺ exchanger ClC-5-encoding CLCN5 gene (in about 60% cases) or the phosphatidylinositol 4.5-biphosphate 5-phosphatase-encoding OCRL1 gene (in about 20% cases). Three patients diagnosed with Dent's disease using clinical criteria were genetically defined by mutational analyses of the CLCN5 gene and the OCRL1 gene. A 20-base pair duplication, c.300_319dup, of the OCRL1 gene, which is predicted to encode a premature truncated OCRL1 protein, and a single base deletion, c.1726delT of the CLCN5 gene, which is predicted to encode a premature truncated CLCN5 protein, were identified separately in two of the patients. No pathological gene variant was identified in the third patient.\nExosomes are one of three categories of extracellular vesicles released extracellularly by various cells. They have been identified to play a role in cellular homeostasis and cell communication under both physiological and pathological conditions. To understand the pathological effects of the CLCN5 and OCRL1 mutations on urinary exosomes, urinary exosomes were quantified in all three patients with Dent’s disease using a double sandwich ELISA. Interestingly, urinary exosomes were significantly increased in the CLCN5 gene-mutated patient (18.8±3.3mg/gCr ; p<0.01) and in the nonmutated patient (4.73±1.5mg/gCr ; p<0.05) compared to in the three controls (2.5±0.7mg/gCr). The results suggest a possible pathological role for exosome biology in Dent's disease.","subitem_description_type":"Other"}]},"item_10001_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.20569/00005088","subitem_identifier_reg_type":"JaLC"}]},"item_10001_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"秋田医学会"}]},"item_10001_relation_12":{"attribute_name":"NII論文ID NAID","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"40022245986","subitem_relation_type_select":"NAID"}}]},"item_10001_source_id_11":{"attribute_name":"NCID","attribute_value_mlt":[{"subitem_source_identifier":"AN00009294","subitem_source_identifier_type":"NCID"}]},"item_10001_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0386-6106","subitem_source_identifier_type":"ISSN"}]},"item_10001_version_type_20":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Inoue, Masataka"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tamura, Hiroaki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takahashi, Tsutomu"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-07-20"}],"displaytype":"detail","filename":"akitai46_3_4(29).pdf","filesize":[{"value":"1.1 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"akitai46_3_4(29)","url":"https://air.repo.nii.ac.jp/record/4742/files/akitai46_3_4(29).pdf"},"version_id":"8aec48f3-6ea9-40b4-b8c3-7d0f01f19c88"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"CLCN5 gene","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Dent's disease","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"exosome","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"OCRL1 gene","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"A STUDY OF URINARY EXOSOMES IN GENETICALLY DEFINED DENT'S DISEASE","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"A STUDY OF URINARY EXOSOMES IN GENETICALLY DEFINED DENT'S DISEASE"},{"subitem_title":"A STUDY OF URINARY EXOSOMES IN GENETICALLY DEFINED DENT'S DISEASE","subitem_title_language":"en"}]},"item_type_id":"10001","owner":"18","path":["1361"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-07-20"},"publish_date":"2020-07-20","publish_status":"0","recid":"4742","relation_version_is_last":true,"title":["A STUDY OF URINARY EXOSOMES IN GENETICALLY DEFINED DENT'S DISEASE"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-25T11:02:13.956121+00:00"}