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Genetic Abnormalities in Pseudohypoaldosteronism Type II and Hypertensive Disorders
https://dmu.repo.nii.ac.jp/records/2000776
https://dmu.repo.nii.ac.jp/records/2000776e68b1d03-dda7-418d-91fa-7990a2eb6f40
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
DKMJ-4-5-2.pdf (473 KB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||
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| タイトル | ||||||||
| タイトル | Genetic Abnormalities in Pseudohypoaldosteronism Type II and Hypertensive Disorders | |||||||
| 言語 | en | |||||||
| 言語 | ||||||||
| 言語 | eng | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | WNK | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | KLHL3 | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | Cullin3 | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | Uromodulin (UMOD) | |||||||
| 資源タイプ | ||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||||
| 資源タイプ | journal article | |||||||
| 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 |
Rai, Tatemitsu
× Rai, Tatemitsu
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| 書誌情報 |
en : Dokkyo Medical Journal 巻 4, 号 5, p. 362-369, 発行日 2025-10-25 |
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| 記事種別 | ||||||||
| 値 | Review | |||||||
| 内容記述 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Pseudohypoaldosteronism type II (PHAII) is an inherited disorder that presents with salt-sensitive hypertension, hyperkalemia, and metabolic acidosis. Genetic mutations in WNK4 (with no lysine kinase 4) and WNK1 (with no lysine kinase 1) were reported as causative genes of PHA II in 2001 by positional cloning of patient families. Through analysis of the molecular pathogenesis of PHA II, WNK constitutes a novel salt reabsorption and blood pressure regulatory signaling pathway in the kidney. In addition, KLHL3 and CUL3, components of the KLHL3-Cullin3 E3 ubiquitin ligase complex, have been newly identified as causative genes of PHA II in 2012 by next generation sequencing (NGS). WNK1 and WNK4 are ubiquitinated as substrates of the KLHL3-Cullin3 ubiquitin E3 ligase complex. Disease-causing genetic mutations in WNK4, KLHL3, and Cullin3 all cause PHAII by a common mechanism of impaired WNK4 ubiquitination and increased intracellular WNK4 protein levels. GWAS (genome-wide association study) and NGS have emerged as powerful tools to identify genes related to the pathogenesis of hypertension. The uromodulin gene (UMOD) is one of such candidates obtained from GWAS, which has been reported to be associated in a number of renal diseases. | |||||||
| 言語 | en | |||||||
| 出版者 | ||||||||
| 出版者 | Dokkyo Medical Society | |||||||
| ISSN | ||||||||
| 収録物識別子タイプ | EISSN | |||||||
| 収録物識別子 | 2436-522X | |||||||
| 書誌レコードID | ||||||||
| 収録物識別子タイプ | NCID | |||||||
| 収録物識別子 | AA12941861 | |||||||
| DOI | ||||||||
| 関連タイプ | isIdenticalTo | |||||||
| 識別子タイプ | DOI | |||||||
| 関連識別子 | https://doi.org/10.51040/dkmj.2025-018 | |||||||
| 出版タイプ | ||||||||
| 出版タイプ | VoR | |||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||
