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A STUDY OF URINARY EXOSOMES IN GENETICALLY DEFINED DENT'S DISEASE
https://doi.org/10.20569/00005088
https://doi.org/10.20569/000050882f2dd70d-94d4-4d9f-972e-61bc6cc030ef
| 名前 / ファイル | ライセンス | アクション |
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akitai46_3_4(29) (1.1 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||||
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| 公開日 | 2020-07-20 | |||||||||||
| タイトル | ||||||||||||
| タイトル | A STUDY OF URINARY EXOSOMES IN GENETICALLY DEFINED DENT'S DISEASE | |||||||||||
| 言語 | en | |||||||||||
| 言語 | ||||||||||||
| 言語 | jpn | |||||||||||
| 主題 | ||||||||||||
| 言語 | en | |||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | CLCN5 gene | |||||||||||
| 主題 | ||||||||||||
| 言語 | en | |||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | Dent's disease | |||||||||||
| 主題 | ||||||||||||
| 言語 | en | |||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | exosome | |||||||||||
| 主題 | ||||||||||||
| 言語 | en | |||||||||||
| 主題Scheme | Other | |||||||||||
| 主題 | OCRL1 gene | |||||||||||
| 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 | |||||||||||
| ID登録 | ||||||||||||
| ID登録 | 10.20569/00005088 | |||||||||||
| ID登録タイプ | JaLC | |||||||||||
| 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 | |||||||||||
| 作成者 |
Inoue, Masataka
× Inoue, Masataka
× Tamura, Hiroaki
× Takahashi, Tsutomu
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| 内容記述 | ||||||||||||
| 内容記述タイプ | Abstract | |||||||||||
| 内容記述 | Dent's disease is an X-linked renal tubulopathy characterized by clinical features such as low molecular weight (LMW) proteinuria, hypercalciuria, and progressive renal failure. In Dent's disease, reabsorption of glomerulus-filtered LMW protein in the proximal tubular cells is decreased due to a malfunction of cellular endocytosis caused either by mutation in the Cl⁻/H⁺ exchanger ClC-5-encoding CLCN5 gene (in about 60% cases) or the phosphatidylinositol 4.5-biphosphate 5-phosphatase-encoding OCRL1 gene (in about 20% cases). Three patients diagnosed with Dent's disease using clinical criteria were genetically defined by mutational analyses of the CLCN5 gene and the OCRL1 gene. A 20-base pair duplication, c.300_319dup, of the OCRL1 gene, which is predicted to encode a premature truncated OCRL1 protein, and a single base deletion, c.1726delT of the CLCN5 gene, which is predicted to encode a premature truncated CLCN5 protein, were identified separately in two of the patients. No pathological gene variant was identified in the third patient. Exosomes are one of three categories of extracellular vesicles released extracellularly by various cells. They have been identified to play a role in cellular homeostasis and cell communication under both physiological and pathological conditions. To understand the pathological effects of the CLCN5 and OCRL1 mutations on urinary exosomes, urinary exosomes were quantified in all three patients with Dent’s disease using a double sandwich ELISA. Interestingly, urinary exosomes were significantly increased in the CLCN5 gene-mutated patient (18.8±3.3mg/gCr ; p<0.01) and in the nonmutated patient (4.73±1.5mg/gCr ; p<0.05) compared to in the three controls (2.5±0.7mg/gCr). The results suggest a possible pathological role for exosome biology in Dent's disease. |
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| 言語 | en | |||||||||||
| 出版タイプ | ||||||||||||
| 出版タイプ | VoR | |||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||||
| 書誌情報 |
ja : 秋田医学 en : Akita journal of medicine 巻 46, 号 3/4, p. 99-106, 発行日 2020-03-30 |
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| 収録物識別子 | ||||||||||||
| 収録物識別子タイプ | PISSN | |||||||||||
| 収録物識別子 | 0386-6106 | |||||||||||
| 収録物識別子 | ||||||||||||
| 収録物識別子タイプ | NCID | |||||||||||
| 収録物識別子 | AN00009294 | |||||||||||
| 出版者 | ||||||||||||
| 出版者 | 秋田医学会 | |||||||||||
| 言語 | ja | |||||||||||
