{"_buckets": {"deposit": "222000b7-38ae-44a8-99b6-889f0dbd455f"}, "_deposit": {"id": "5997", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "5997"}, "status": "published"}, "_oai": {"id": "oai:niigata-u.repo.nii.ac.jp:00005997", "sets": ["455", "562"]}, "item_6_alternative_title_1": {"attribute_name": "その他のタイトル", "attribute_value_mlt": [{"subitem_alternative_title": "常染色体劣性先天性魚鱗癬の新規の疾患原因遺伝子SDR9C7の同定"}]}, "item_6_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2018-03-23", "bibliographicIssueDateType": "Issued"}, "bibliographic_titles": [{}]}]}, "item_6_date_granted_51": {"attribute_name": "学位授与年月日", "attribute_value_mlt": [{"subitem_dategranted": "2018-03-23"}]}, "item_6_degree_grantor_49": {"attribute_name": "学位授与機関", "attribute_value_mlt": [{"subitem_degreegrantor": [{"subitem_degreegrantor_name": "新潟大学"}]}]}, "item_6_degree_name_48": {"attribute_name": "学位名", "attribute_value_mlt": [{"subitem_degreename": "博士（医学）"}]}, "item_6_description_4": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of hereditary skin disorder characterized by an aberrant cornification of the epidermis. ARCI is classified into a total of 11 subtypes (ARCI1-ARCI11) based on their causative genes or loci. Of these, the causative gene for only ARCI7 has not been identified, while it was previously mapped on chromosome 12p11.2-q13.1. In this study, we performed genetic analyses for three Lebanese families with ARCI, and successfully determined the linkage interval to 9.47Mb region on chromosome 12q13.13-q14.1, which was unexpectedly outside of the ARCI7 locus. Whole-exome sequencing and the subsequent Sanger sequencing led to the identification of missense mutations in short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7) gene on chromosome 12q13.3, i.e. two families shared an identical homozygous mutation c.599T\u003eC (p.Ile200Thr) and one family had another homozygous mutation c.214C\u003eT (p.Arg72Trp). In cultured cells, expression of both the mutant SDR9C7 proteins was markedly reduced as compared to wild-type protein, suggesting that the mutations severely affected a stability of the protein. In normal human skin, the SDR9C7 was abundantly expressed in granular and cornified layers of the epidermis. By contrast, in a patient’s skin, its expression in the cornified layer was significantly decreased. It has previously been reported that SDR9C7 is an enzyme to convert retinal into retinol. Therefore, our study not only adds a new gene responsible for ARCI, but also further suggests a potential role of vitamin A metabolismin terminal differentiation of the epidermis in humans.", "subitem_description_type": "Abstract"}]}, "item_6_description_5": {"attribute_name": "内容記述", "attribute_value_mlt": [{"subitem_description": "学位の種類: 博士（医学）. 報告番号: 甲第4399号. 学位記番号: 新大院博（医）甲第798号. 学位授与年月日: 平成30年3月23日", "subitem_description_type": "Other"}, {"subitem_description": "Human Molecular Genetics. 2016.  25(20), 4484-4493.", "subitem_description_type": "Other"}]}, "item_6_description_53": {"attribute_name": "学位記番号", "attribute_value_mlt": [{"subitem_description": "新大院博（医）甲第798号", "subitem_description_type": "Other"}]}, "item_6_dissertation_number_52": {"attribute_name": "学位授与番号", "attribute_value_mlt": [{"subitem_dissertationnumber": "13101甲第4399号"}]}, "item_6_full_name_3": {"attribute_name": "著者別名", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "51221", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "重原, 庸哉"}]}]}, "item_6_publisher_7": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "新潟大学"}]}, "item_6_relation_14": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type_id": {"subitem_relation_type_id_text": "info:doi/10.1093/hmg/ddw277", "subitem_relation_type_select": "DOI"}}]}, "item_6_select_19": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "ETD"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Shigehara, Yohya"}], "nameIdentifiers": [{"nameIdentifier": "51220", "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": "2019-08-05"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "h29nmk798.pdf", "filesize": [{"value": "1.5 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 1500000.0, "url": {"label": "本文", "url": "https://niigata-u.repo.nii.ac.jp/record/5997/files/h29nmk798.pdf"}, "version_id": "f72a53fe-aade-44fd-8d28-410196dca663"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2019-08-05"}], "displaytype": "detail", "download_preview_message": "", "file_order": 1, "filename": "h29nmk798_a.pdf", "filesize": [{"value": "676.1 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 676100.0, "url": {"label": "要旨", "url": "https://niigata-u.repo.nii.ac.jp/record/5997/files/h29nmk798_a.pdf"}, "version_id": "c6caf9af-c0fb-4e0a-b6fc-aa4570a551bf"}]}, "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": "thesis", "resourceuri": "http://purl.org/coar/resource_type/c_46ec"}]}, "item_title": "Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis"}, {"subitem_title": "Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis", "subitem_title_language": "en"}]}, "item_type_id": "6", "owner": "1", "path": ["455", "562"], "permalink_uri": "http://hdl.handle.net/10191/50427", "pubdate": {"attribute_name": "公開日", "attribute_value": "2018-07-26"}, "publish_date": "2018-07-26", "publish_status": "0", "recid": "5997", "relation": {}, "relation_version_is_last": true, "title": ["Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis"], "weko_shared_id": 2}