{"created":"2021-03-01T06:09:43.320450+00:00","id":5847,"links":{},"metadata":{"_buckets":{"deposit":"9a24501a-f0c0-42e7-93ba-464a848f7c13"},"_deposit":{"id":"5847","owners":[],"pid":{"revision_id":0,"type":"depid","value":"5847"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00005847","sets":["453:455","471:561:562"]},"item_6_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"常染色体劣性縮毛症/乏毛症の日本人家系で同定されたLPAR6遺伝子変異の解析 : 有用なLPA_6アッセイ系の確立"}]},"item_6_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2017-03-23","bibliographicIssueDateType":"Issued"},"bibliographic_titles":[{}]}]},"item_6_date_granted_51":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2017-03-23"}]},"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":"BACKGROUND:Woolly hair (WH) is a hair shaft anomaly characterized by tightly-curled hair and is frequently associated with hypotrichosis. Non-syndromic forms of WH can show either autosomal dominant or recessive inheritance. The autosomal recessive form of WH (ARWH) is caused by mutations in either lipase H (LIPH) or lysophosphatidic acid receptor 6 (LPAR6) gene, encoding an LPA-producing enzyme PA-PLA1α and an LPA receptor LPA6, respectively. OBJECTIVE:To define the molecular basis of ARWH/hypotrichosis in a Japanese family.\\nMETHODS:We performed mutational analysis of candidate genes and a series of expression and in vitro functional analyses, which we improved in this study, to determine the consequences resulting from the mutations identified in the family.\\nRESULTS:Novel compound heterozygous LPAR6 mutations were identified in the patient. One was a nonsense mutation c.756T>A (p.Tyr252*); the other was a large insertion mutation within the promoter region of LPAR6. Expression studies detected LPAR6 mRNA only from the c.756T>A allele in the patient's hair follicles, suggesting that the insertion in the other allele disrupted the LPAR6 promoter and thus led to a failure of transcription. Furthermore, an improved LPA6 functional assay developed in this study demonstrated aberrant expression and a subsequent loss of function of the p.Tyr252*-mutant protein. CONCLUSION:Through establishing a useful assay system for LPA6, our results further underscore the crucial roles of LPAR6 in hair follicle development and hair growth in humans at molecular levels.","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4259号. 学位記番号: 新大院博（医）甲第737号. 学位授与年月日: 平成29年3月23日","subitem_description_type":"Other"},{"subitem_description":"Journal of Dermatological Science78(3) 197–205","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737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4259号"}]},"item_6_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"50977","nameIdentifierScheme":"WEKO"}],"names":[{"name":"林, 良太"}]}]},"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/10.1016/j.jdermsci.2015.03.006","subitem_relation_type_select":"DOI"}}]},"item_6_rights_15":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright © 2015 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved"}]},"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":"Hayashi, Ryota"}],"nameIdentifiers":[{"nameIdentifier":"50976","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","filename":"h28nmk737.pdf","filesize":[{"value":"2.3 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"本文","url":"https://niigata-u.repo.nii.ac.jp/record/5847/files/h28nmk737.pdf"},"version_id":"4a5868f1-0273-4f2b-bf95-c00d18165a5d"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-08-05"}],"displaytype":"detail","filename":"h28nmk737_a.pdf","filesize":[{"value":"214.1 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"要旨","url":"https://niigata-u.repo.nii.ac.jp/record/5847/files/h28nmk737_a.pdf"},"version_id":"4456d914-a7d4-48c4-8407-ba0faa4f3639"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Hypotrichosis","subitem_subject_scheme":"Other"},{"subitem_subject":"LIPH","subitem_subject_scheme":"Other"},{"subitem_subject":"LPA(6)","subitem_subject_scheme":"Other"},{"subitem_subject":"LPAR6","subitem_subject_scheme":"Other"},{"subitem_subject":"Woolly hair","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":"thesis","resourceuri":"http://purl.org/coar/resource_type/c_46ec"}]},"item_title":"Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6."},{"subitem_title":"Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6.","subitem_title_language":"en"}]},"item_type_id":"6","owner":"1","path":["455","562"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-09-11"},"publish_date":"2018-09-11","publish_status":"0","recid":"5847","relation_version_is_last":true,"title":["Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis : Establishment of a useful assay system for LPA_6."],"weko_creator_id":"1","weko_shared_id":2},"updated":"2022-12-15T03:39:05.737882+00:00"}