生化学診断が困難な原発性副腎皮質機能低下症の分子基盤の解明と新規責任遺伝子の同定

Material type: 文書・図像類

Author: 天野, 直子

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Publication date: 2018

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Note (General)：: type:text(1)「生化学診断が困難な原発性副腎皮質機能低下症」の63例中54例で遺伝子変異を同定した (STAR 19例、NR0B1 20例、SAMD9 8例、AAAS 3例、NNT 2例、MC2R 1例、CDK N1C 1例)。各単一遺伝子疾患の臨床的特徴について検討した成果を学術雑誌に受...

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科研費研究者番号 : 70348689

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Material Type: 文書・図像類
Title: 生化学診断が困難な原発性副腎皮質機能低下症の分子基盤の解明と新規責任遺伝子の同定
Author/Editor: 天野, 直子
Author Heading: 天野, 直子
Publication Date: 2018
Publication Date (W3CDTF): 2018
Alternative Title: セイカガクシンダンガコンナンナゲンパツセイフクジンヒシツキノウテイカショウノブンシキバンノカイメイトシンキセキニンイデンシノドウテイ
Seikagaku shindan ga konnanna genpatsusei fukujin hishitsu kinō teikashō no bunshi kiban no kaimei to shinki sekinin idenshi no dōtei
Molecular basis and a new genetic cause of primary aderenal insufficiency
Periodical title: 科学研究費補助金研究成果報告書
Text Language Code: jpn
eng
Subject Heading: 副腎機能低下症
Target Audience: 一般
Note (General): type:text
(1)「生化学診断が困難な原発性副腎皮質機能低下症」の63例中54例で遺伝子変異を同定した (STAR 19例、NR0B1 20例、SAMD9 8例、AAAS 3例、NNT 2例、MC2R 1例、CDK N1C 1例)。各単一遺伝子疾患の臨床的特徴について検討した成果を学術雑誌に受理された。 (2)先天性副腎低形成症3例で遺伝子A内に微細欠失を同定した。遺伝子A安定発現株を用いたin vitro機能解析で、欠失型は、野生型よりもβカテニン産生能が低下した。 We enrolled 63 Japanese children (59 families) with biochemically uncharacterized PAI, and sequenced 12 PAI-associated genes. We calculated the proportion of mutation-carrying patients according to demographic characteristics. We identified genetic defects in 50 (85%) families: STAR in 19, NR0B1 in 18, SAMD9 in seven, AAAS in two, NNT in two, MC2R in one and CDKN1C in one. This work was published in the peer-reviewed academic journal‘European journal of endocrinology.’ We identified submicroscopic deletions in the gene A in three patients with adrenal hypoplasia. The in vitro study using the HEK293 cells having stable expression of gene A revealed that β-catenin producing-capacity would decrease in the identified gene A-deleted cells.
研究種目 : 基盤研究(C)(一般) 研究期間 : 2016～2018 課題番号 : 16K09998 研究分野 : 小児内分泌
Source: https://koara.lib.keio.ac.jp/xoonips/modules/xoonips/download.php?koara_id=KAKEN_16K09998seika
https://koara.lib.keio.ac.jp/xoonips/modules/xoonips/download.php?koara_id=KAKEN_16K09998seika
Access Restrictions: 限定公開
Related Material: 科研費研究者番号 : 70348689
Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
https://irdb.nii.ac.jp
Original Data Provider (Database): 慶應義塾大学 : 慶應義塾大学学術情報リポジトリ