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(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B
http://hdl.handle.net/10069/0002002437
http://hdl.handle.net/10069/0002002437321eda49-1990-48d6-8f72-49f43f6835d0
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ISYK1685_Urakawa.pdf (2.1 MB)
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| アイテムタイプ | 学位論文 / Thesis or Dissertation(1) | |||||||
|---|---|---|---|---|---|---|---|---|
| 公開日 | 2025-06-13 | |||||||
| タイトル | ||||||||
| タイトル | (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B | |||||||
| 言語 | en | |||||||
| 言語 | ||||||||
| 言語 | eng | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | pseudohypoparathyroidism type 1B | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | GNAS | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | methylation | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | parathyroid hormone | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | AHO | |||||||
| 資源タイプ | ||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||||
| 資源タイプ | doctoral thesis | |||||||
| アクセス権 | ||||||||
| アクセス権 | open access | |||||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||||
| 著者 |
浦川, 立貴
× 浦川, 立貴
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| 著者別名 | ||||||||
| 姓名 | Urakawa, Tatsuki | |||||||
| 言語 | en | |||||||
| 抄録 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Objective: Pseudohypoparathyroidism type 1B (PHP1B) caused by methylation defects of differentially methylated regions (DMRs) on the GNAS locus can be categorized into groups according to etiologies and methylation defect patterns of the DMRs. The aim of this study was to clarify the clinical characteristics of each group. Design: Comprehensive molecular analyses consisting of methylation, copy number, and microsatellite analyses. Methods: Eighty-four patients with PHP1B were included in this study. We classified them into 5 groups, namely, autosomal dominant inheritance-PHP1B (Group 1, G1), sporadic-PHP1B (G2), and atypical-PHP1B (G3-G5), based on the methylation defect patterns in 4 DMRs on the GNAS locus and etiologies and evaluated the clinical findings in each group and compared them among the groups. Results: G2 had the youngest age and the highest serum intact parathyroid hormone levels among the 5 groups at the time of diagnosis. The most common symptoms at the time of diagnosis were tetany in G1, and seizures or loss of consciousness in G2. Albright's hereditary osteodystrophy and PHP-suggestive features were most frequently observed in the G2 proband. Nine patients had neurodevelopmental disorders (NDs) consisting of mild to borderline intellectual disability and/or developmental delay. There were no significant correlations between the average methylation ratios of 7 CpG sites in the GNAS-A/B:TSS-DMR and hormonal and biochemical findings. Conclusion: This study revealed the differences in some clinical characteristics, particularly clinical features, and ages at the time of diagnosis between G2 and other groups and detailed NDs observed in some patients with PHP1B. | |||||||
| 言語 | en | |||||||
| 内容記述 | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | 長崎大学学位論文 学位記番号:博(医歯薬)甲第1685号 学位授与年月日:令和7年3月19日 | |||||||
| 言語 | ja | |||||||
| 内容記述 | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | Author: Tatsuki Urakawa, Shinichiro Sano, Sayaka Kawashima, Akie Nakamura, Hirohito Shima, Motoki Ohta, Yuki Yamada, Ai Nishida, Hiromune Narusawa, Yoshiaki Ohtsu, Keiko Matsubara, Sumito Dateki, Yoshihiro Maruo, Maki Fukami, Tsutomu Ogata, Masayo Kagami | |||||||
| 言語 | en | |||||||
| 内容記述 | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | Citation: European Journal of Endocrinology, 189(6), pp.590–600; 2023 | |||||||
| 言語 | en | |||||||
| 書誌情報 |
en : European Journal of Endocrinology 巻 189, 号 6, p. 590-600, 発行日 2025-03-19 |
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| ISSN | ||||||||
| 収録物識別子タイプ | ISSN | |||||||
| 収録物識別子 | 0804-4643 | |||||||
| DOI | ||||||||
| 関連タイプ | isIdenticalTo | |||||||
| 識別子タイプ | DOI | |||||||
| 関連識別子 | 10.1093/ejendo/lvad163 | |||||||
| 権利 | ||||||||
| 権利情報 | © The Author(s) 2023. Published by Oxford University Press on behalf of European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/pages/standard-publication-reuse-rights). This is a pre-copyedited, author-produced version of an article accepted for publication in European Journal of Endocrinology following peer review. The version of record European Journal of Endocrinology, 189(6), pp.590–600; 2023 is available online at: https://doi.org/10.1093/ejendo/lvad163. | |||||||
| 言語 | en | |||||||
| 著者版フラグ | ||||||||
| 出版タイプ | VoR | |||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||
| その他のタイトル | ||||||||
| その他のタイトル | 偽性副甲状腺機能低下症1B 84名における（エピ）遺伝学的および臨床的特徴 | |||||||
| 言語 | ja | |||||||
| 出版者 | ||||||||
| 出版者 | Oxford University Press | |||||||
| 言語 | en | |||||||
| 関係URI | ||||||||
| 識別子タイプ | HDL | |||||||
| 関連識別子 | http://hdl.handle.net/10069/0002002321 | |||||||
| 学位名 | ||||||||
| 学位名 | 博士(医学) | |||||||
| 言語 | ja | |||||||
| 学位授与機関 | ||||||||
| 学位授与機関識別子Scheme | kakenhi | |||||||
| 学位授与機関識別子 | 17301 | |||||||
| 学位授与機関名 | Nagasaki University (長崎大学) | |||||||
| 学位授与年月日 | ||||||||
| 学位授与年月日 | 2025-03-19 | |||||||
| 学位授与番号 | ||||||||
| 学位授与番号 | 甲医歯薬第1685号 | |||||||
| 学位の種類 | ||||||||
| 言語 | ja | |||||||
| 値 | 課程博士 | |||||||
| 引用 | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | Nagasaki University (長崎大学), 博士(医学) (2025-03-19) | |||||||
