{"created":"2023-08-31T02:38:21.002016+00:00","id":2000035,"links":{},"metadata":{"_buckets":{"deposit":"f2f0d1bb-50c0-4028-9a7f-faa93994255e"},"_deposit":{"created_by":16,"id":"2000035","owners":[16],"pid":{"revision_id":0,"type":"depid","value":"2000035"},"status":"published"},"_oai":{"id":"oai:mie-u.repo.nii.ac.jp:02000035","sets":["334:608:618:1336"]},"author_link":[],"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2023-03-24","bibliographicIssueDateType":"Issued"}}]},"item_7_date_granted_59":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2023-03-24"}]},"item_7_degree_grantor_57":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_name":"三重大学"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"14101","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_7_degree_name_56":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士(医学)"}]},"item_7_description_14":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_description":"application/pdf","subitem_description_type":"Other"}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Thin basement membrane nephropathy (TBMN) is characterized by the observation of microhematuria and a thin glomerular basement membrane on kidney biopsy specimens. Its main cause is heterozygous mutations of COL4A3 or COL4A4, which also cause late-onset focal segmental glomerulosclerosis (FSGS) or autosomal dominant Alport syndrome (ADAS). Thirteen TBMN cases were analyzed using Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and exome sequencing. Ten heterozygous variants were detected in COL4A3 or COL4A4 in nine patients via Sanger sequencing, three of which were novel variants. The diagnostic rate of “likely pathogenic” or “pathogenic” under the American College of Medical Genetics and Genomics guidelines was 53.8% (7 out of 13 patients). There were eight single nucleotide variants, seven of which were glycine substitutions in the collagenous domain, one of which was a splice-site single nucleotide variant, and two of which were deletion variants. One patient had digenic variants in COL4A3 and COL4A4. While MLPA analyses showed negative results, exome sequencing identified three heterozygous variants in causative genes of FSGS in four patients with no apparent variants on Sanger sequencing. Since patients with heterozygous mutations of COL4A3 or COL4A4 showed a wide spectrum of disease from TBMN to ADAS, careful follow-up will be necessary for these patients.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_7_description_5":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"本文/Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan","subitem_description_type":"Other"},{"subitem_description":"10p","subitem_description_type":"Other"}]},"item_7_dissertation_number_60":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲医学第2179号"}]},"item_7_publisher_30":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"三重大学"}]},"item_7_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.3390/genes13101779 ","subitem_relation_type_select":"DOI"}}]},"item_7_text_31":{"attribute_name":"出版者（ヨミ）","attribute_value_mlt":[{"subitem_text_value":"ミエダイガク"}]},"item_7_text_63":{"attribute_name":"ノート","attribute_value_mlt":[{"subitem_text_value":"Genes 2022; 13(10): 1779 に掲載"}]},"item_7_text_65":{"attribute_name":"資源タイプ（三重大）","attribute_value_mlt":[{"subitem_text_value":"Doctoral Dissertation / 博士論文"}]},"item_7_version_type_15":{"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_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":"Hirabayashi, Yosuke","creatorNameLang":"en"},{"creatorName":"ヒラバヤシ, ヨウスケ","creatorNameLang":"ja-Kana"},{"creatorName":"平林, 陽介","creatorNameLang":"ja"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2023-03-24"}],"displaytype":"detail","filename":"2022DM0326.pdf","filesize":[{"value":"2.05MB"}],"format":"application/pdf","mimetype":"application/pdf","url":{"label":"2022DM0326","objectType":"fulltext","url":"https://mie-u.repo.nii.ac.jp/record/2000035/files/2022DM0326.pdf"},"version_id":"06d63f49-252d-48d4-902a-56eb56c6d4d3"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"autosomal dominant Alport syndrome","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"COL4A3","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"COL4A4","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"microhematuria","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"mutation","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"thin basement membrane nephropathy","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"variant ","subitem_subject_language":"en","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":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Mutation Analysis of Thin Basement Membrane Nephropathy","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Mutation Analysis of Thin Basement Membrane Nephropathy","subitem_title_language":"en"}]},"item_type_id":"7","owner":"16","path":["1336"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2023-08-31"},"publish_date":"2023-08-31","publish_status":"0","recid":"2000035","relation_version_is_last":true,"title":["Mutation Analysis of Thin Basement Membrane Nephropathy"],"weko_creator_id":"16","weko_shared_id":-1},"updated":"2023-10-17T01:55:05.116620+00:00"}