相关实验视频

Updated: Jan 7, 2026

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

14.2K

在怀疑MODY9的患者中,对新型PAX4变异的鉴定和表征

Xinyu Chen1,2,3,4,5,6,7, Yang Tian1,3,4,5,6,7, Wanhong Wu1,3,4,5,6,7

  • 1Key Laboratory of Endocrine Glucose & Lipids Metabolism and Brain Aging, Ministry of Education; Department of Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.

BMJ open diabetes research & care
|December 31, 2025
PubMed
概括

在患有年轻人成熟期糖尿病 (MODY) 的患者中发现了三种新的PAX4基因变异. 这些PAX4变异通过破坏蛋白质的稳定性来损害β细胞功能,为MODY9的病原性提供了新的见解.

关键词:
单一的糖尿病 单一的糖尿病

更多相关视频

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.0K

相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.1K