{"created":"2021-03-01T06:13:32.308868+00:00","id":6907,"links":{},"metadata":{"_buckets":{"deposit":"fe4f1689-7bb4-47b3-b65b-dfa6742ef082"},"_deposit":{"id":"6907","owners":[],"pid":{"revision_id":0,"type":"depid","value":"6907"},"status":"published"},"_oai":{"id":"oai:nagoya.repo.nii.ac.jp:00006907","sets":["499:500:501"]},"author_link":["18361","18362"],"item_10_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2004","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"81","bibliographicPageStart":"75","bibliographicVolumeNumber":"131C","bibliographic_titles":[{"bibliographic_title":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","bibliographic_titleLang":"en"}]}]},"item_10_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"The molecular bases of various types of congenital pigmentary disorders have been clarified in the past ten years, as follows. (1) Disorders of melanoblast migration from the neural crest into the skin in embryo (and their disease genes), piebaldism (c-kit); Waardenburg Syndrome (WS) 1 and 3(PAX3); WS2(MITF); WS4(SOX10; END3 / ENDRB); dyschromatosis hereditaria symmetrica (DSRAD). (2) Disorders of melanosome formation in the melanocyte (and their disease gene), Hermanshy-Pudlak Syndrome (HPS)1(HPS1); HPS2(ADTB3A); HPS3(HPS3); HPS4(HPS4); HPS5(HPS5); HPS6(HPS6); Chediak-Higashi Syndrome 1 (CHS1). (3) Disorders of melanin synthesis in the melanosome (and their disease genes), oculocutaneous albinism(OCA)1 (TYR); OCA2 (P); OCA3 (TRP1); OCA4 (MATP). (4) Disorders of mature melanosome transfer to the tips of dendrites (and their disease genes), Griscelli syndrome (GS)1 (MYO5A); GS2(RAB27A). These disorders are explained phenotypically and discussed pathogenetically.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_10_identifier_60":{"attribute_name":"URI","attribute_value_mlt":[{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/2237/8574"}]},"item_10_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Wiley","subitem_publisher_language":"en"}]},"item_10_relation_11":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1002/ajmg.c.30036","subitem_relation_type_select":"DOI"}}]},"item_10_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"This is a preprint of an article accepted for publication in American Journal of Medical Genetics Part C: Seminars in Medical Genetics  copyright 2004 (copyright owner as specified in the Journal).This is a preprint of an article published in [include the complete citation information for the final version of the Contribution aspublished in the print edition of the Journal]\"","subitem_rights_language":"en"}]},"item_10_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"author"}]},"item_10_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1552-4868","subitem_source_identifier_type":"PISSN"}]},"item_10_text_14":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_text_value":"application/pdf"}]},"item_1615787544753":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"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":"Tomita, Yasushi","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"18361","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Suzuki, Tamio","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"18362","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-02-19"}],"displaytype":"detail","filename":"AJMG_Review.pdf","filesize":[{"value":"110.3 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"AJMG_Review.pdf","objectType":"fulltext","url":"https://nagoya.repo.nii.ac.jp/record/6907/files/AJMG_Review.pdf"},"version_id":"43ab714a-c937-4186-8e74-01fb9cc592ce"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"albinism","subitem_subject_scheme":"Other"},{"subitem_subject":"Chediak-Higashi syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"dyschromatosis","subitem_subject_scheme":"Other"},{"subitem_subject":"Griscelli syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"Hermansky-Pudlak syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"piebaldism","subitem_subject_scheme":"Other"},{"subitem_subject":"Waardenburg syndrome","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Genetics of pigmentary disorders","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Genetics of pigmentary disorders","subitem_title_language":"en"}]},"item_type_id":"10","owner":"1","path":["501"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2007-07-25"},"publish_date":"2007-07-25","publish_status":"0","recid":"6907","relation_version_is_last":true,"title":["Genetics of pigmentary disorders"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-01-16T04:54:34.796589+00:00"}