Genetic variation in the GDNF promoter affects its expression and modifies the severity of Hirschsprung's disease (HSCR) in rats carrying Ednrbsl mutations
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- 作者：Jieping Huanga ; b ; 1 ; Ruihua Dangb ; * ; 1 ; dangruihua@nwsuaf.edu.cn" class="auth_mail" title="E-mail the corresponding author ; Daisuke Torigoec ; e ; Anqi Lib ; Chuzhao Leib ; * ; leichuzhao1118@126.com" class="auth_mail" title="E-mail the corresponding author ; Nobuya Sasakid ; Jinxi Wangc ; Takashi Aguic
- 关键词：HSCR ; Hirschsprung&rsquo ; s disease ; GDNF ; glial cell line-derived neurotrophic factor ; ENS ; enteric nervous system ; RET ; Ret proto-oncogene ; LEF1 ; lymphoid enhancing factor-1
- 刊名：Gene
- 出版年：2016
- 出版时间：1 January 2016
- 年：2016
- 卷：575
- 期：1
- 页码：144-148
- 全文大小：573 K
文摘
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· The − 613C > T mutation in the AGH strain decreased the expression of Gdnf.
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· Upstream region of exon 2 of Gdnf shown low transcriptional activity in AGH-Ednrbsl or LEH-Ednrbsl rats.
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· The − 613C > T mutation in AGH-Ednrbsl resulting in low expression of Gdnf was irrelevant to LEF1.
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· Expression of the Gdnf gene may modify the severity of HSCR in rats carrying Ednrbsl mutations.