GNAQ/GNA11 马赛克主义与异常的血清指数和微血管神经化有关

相关实验视频

Updated: Jul 14, 2025

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
08:43

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation

Published on: May 31, 2016

19.6K

Nicole Knöpfel1, Davide Zecchin2, Hanna Richardson3

  • 1Mosaicism and Precision Medicine Laboratory, Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, United Kingdom; Department of Paediatric Dermatology, Great Ormond St Hospital for Children, London, United Kingdom.

The Journal of investigative dermatology
|October 6, 2023
PubMed
概括

马赛克GNAQ/GNA11突变会导致神经问题. 这项研究在74%的受影响儿童中发现了异常的代谢,将低与发作和渐进的脑化联系起来.

更多相关视频

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

8.7K
Quantifying Spontaneous Ca2+ Fluxes and their Downstream Effects in Primary Mouse Midbrain Neurons06:54

Quantifying Spontaneous Ca2+ Fluxes and their Downstream Effects in Primary Mouse Midbrain Neurons

Published on: September 9, 2020

6.3K

相关概念视频

Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.3K