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Updated: Sep 19, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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新生儿糖尿病相关的误解PDX1变体破坏了染色质关联和蛋白质-蛋白质相互作用

Xiaodun Yang1, Angela Zanfardino2, Riccardo Schiaffini3

  • 1Institute for Diabetes, Obesity and Metabolism, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

JCI insight
|June 9, 2025
PubMed
概括

PDX1突变导致糖尿病和胰腺问题. 一种特定的突变 (Asn196Thr) 破坏了蛋白质相互作用和基因结合,导致小鼠的胰腺产生.

关键词:
发展发展发展 发展发展糖尿病 糖尿病 糖尿病内分泌学 在内分泌学.遗传性疾病是一种遗传性疾病.

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