相关实验视频

Updated: Jun 29, 2025

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

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

新型双基ZNF335变异导致初级小头症:一个病例报告和放射学审查

Dhrumil Deveshkumar Patel¹, Karen W Gripp², Erin Wadman²

¹Department of Radiology, Nemours Children's Health, Wilmington, Delaware, USA.

American journal of medical genetics. Part A

|March 29, 2024

概括

通过影响神经发育,ZNF335中的遗传变异会导致小头症. 这项研究确定了一种与尼泊尔患者初级小头症和脑部异常相关的新型ZNF335变异.

科学领域:

遗传学遗传学是一个
神经科学是一个神经科学.
发展生物学发展生物学

背景情况:

在ZNF335中双性致病变体是最近发现的小头症的遗传原因.
ZNF335在通过与H3K4甲基转移酶复合物的相互作用来调节神经前体增殖和神经发生方面发挥着至关重要的作用.
致病性ZNF335变体可能导致神经元细胞死亡和异常分化,导致二次小头症.

关键词:

在 ZNF 335 中,微头症是一个微头症.

更多相关视频

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

Establishing Mouse Models for Zika Virus-induced Neurological Disorders Using Intracerebral Injection Strategies: Embryonic, Neonatal, and Adult

Establishing Mouse Models for Zika Virus-induced Neurological Disorders Using Intracerebral Injection Strategies: Embryonic, Neonatal, and Adult

Published on: April 26, 2018

相关概念视频

Neurulation

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...