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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.
http://hdl.handle.net/10191/47590
http://hdl.handle.net/10191/4759030e7f29a-aaab-4f69-a659-20f18e89599a
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本文 (2.3 MB)
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要旨 (214.1 kB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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| 公開日 | 2018-09-11 | |||||
| タイトル | ||||||
| タイトル | 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. | |||||
| タイトル | ||||||
| タイトル | 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. | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Hypotrichosis | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | LIPH | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | LPA(6) | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | LPAR6 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Woolly hair | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_46ec | |||||
| タイプ | thesis | |||||
| その他のタイトル | ||||||
| その他のタイトル | 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 | |||||
| 著者 |
Hayashi, Ryota
× Hayashi, Ryota |
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| 著者別名 | ||||||
| 識別子Scheme | WEKO | |||||
| 識別子 | 50977 | |||||
| 姓名 | 林, 良太 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | 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. | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 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 | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Journal of Dermatological Science78(3) 197–205 | |||||
| 書誌情報 | 発行日 2017-03-23 | |||||
| 出版者 | ||||||
| 出版者 | 新潟大学 | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | info:doi/10.1016/j.jdermsci.2015.03.006 | |||||
| 権利 | ||||||
| 権利情報 | Copyright © 2015 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved | |||||
| 著者版フラグ | ||||||
| 値 | ETD | |||||
| 学位名 | ||||||
| 学位名 | 博士（医学） | |||||
| 学位授与機関 | ||||||
| 学位授与機関名 | 新潟大学 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2017-03-23 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 13101甲第4259号 | |||||
| 学位記番号 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 新大院博（医）甲第737号 | |||||
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Cite as
Hayashi, Ryota, 2017, 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.: 新潟大学.
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