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IDENTIFICATION OF NOVEL GENETIC MUTATIONS IN JAPANESE PATIENTS WITH SEVERE CONGENITAL HYPOTHYROIDISM
http://hdl.handle.net/10295/2337
http://hdl.handle.net/10295/233792dee35d-54dc-48ea-9402-5cf6182426b1
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
akitai40-2(71).pdf (1.4 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||||||
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| 公開日 | 2014-01-07 | |||||||||||||
| タイトル | ||||||||||||||
| タイトル | IDENTIFICATION OF NOVEL GENETIC MUTATIONS IN JAPANESE PATIENTS WITH SEVERE CONGENITAL HYPOTHYROIDISM | |||||||||||||
| 言語 | en | |||||||||||||
| 言語 | ||||||||||||||
| 言語 | eng | |||||||||||||
| 主題 | ||||||||||||||
| 言語 | en | |||||||||||||
| 主題Scheme | Other | |||||||||||||
| 主題 | congenital hypothyroidism | |||||||||||||
| 主題 | ||||||||||||||
| 言語 | en | |||||||||||||
| 主題Scheme | Other | |||||||||||||
| 主題 | genes | |||||||||||||
| 主題 | ||||||||||||||
| 言語 | en | |||||||||||||
| 主題Scheme | Other | |||||||||||||
| 主題 | mutation | |||||||||||||
| 主題 | ||||||||||||||
| 言語 | en | |||||||||||||
| 主題Scheme | Other | |||||||||||||
| 主題 | prevalence | |||||||||||||
| 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 | |||||||||||||
| 作成者 |
Adachi, Hiroyuki
× Adachi, Hiroyuki
× Takahashi, Ikuko
× Arai, Hirokazu
× Takahashi, Tsutomu
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| 内容記述 | ||||||||||||||
| 内容記述タイプ | Abstract | |||||||||||||
| 内容記述 | Objective : The prevalence of genetic mutations in congenital hypothyroidism (CH) remains undetermined. The objective of this study was to determine the prevalence of mutations in DUOX2, TSHR, TG, PAX8, and TPO among severe permanent primary CH. Methods : Between April 1999 and March 2011, 114,733 newborns were screened for CH in Akita Prefecture, Japan. Among them, 330 were suspected of having CH and were referred to pediatricians. We recruited 40 patients who were referred to our institute. Among them, we identified 9 permanent primary CH patients who were severely affected with an initial TSH ≥20 mU/l upon newborn screening and performed direct sequencing of the 5 candidate genes. Results : 3 of 9 patients (33%) had mutations in PAX8, TPO, and TSHR. Among the severely affected subjects, 60% had thyroid dysgenesis (TD), while for patients with initial TSH upon screening <20 mU/l only 12% had TD. Conclusions : Despite the high frequency of TD, the detection rate of mutations among severe permanent primary CH was higher than expected. This study suggests that the genetic analysis of 5 genes, namely, DUOX2, TSHR, TG, PAX8, and TPO, is useful for the diagnosis of CH, and that the actual prevalence of genetic mutations among CH might be higher than as previously estimated. | |||||||||||||
| 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 巻 40, 号 2, p. 71-78, 発行日 2013-11-21 |
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| 収録物識別子 | ||||||||||||||
| 収録物識別子タイプ | ISSN | |||||||||||||
| 収録物識別子 | 03866106 | |||||||||||||
| 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 | |||||||||||||
