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Updated: Jun 28, 2025

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
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Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

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GJB2 c.35del 变异对 GJA1 基因表达进行上调,并影响人类干细胞的分化

Ana Carla Batissoco1,2, Dayane Bernardino Cruz3, Thiago Geronimo Pires Alegria3

  • 1Universidade de São Paulo (USP), Faculdade de Medicina (FM), Hospital das Clínicas (HC), Laboratório de Investigação Médica de Otorrinolaringologia (LIM32), São Paulo, SP, Brazil.

Genetics and molecular biology
|April 16, 2024
PubMed
概括

致病性GJB2变种导致听力损失. 在干细胞中,GJB2的损失导致Cx43表达的增加和差异化的改变,这表明对连接素功能的补偿机制.

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