相关实验视频

Updated: Jan 14, 2026

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

另一个案例支持CCNK作为神经发育疾病基因

Clara Xiol¹, Jonathan Olival², Loreto Martorell^1,3

¹Department of Laboratory, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.

Clinical genetics

|October 16, 2025

概括

CCNK基因的新变异与轻度智力障碍和明显的面部特征有关. 这一发现扩大了CCNK基因突变对神经发育障碍的已知影响.

科学领域:

遗传学是一个遗传学.
神经科学是一个神经科学.
发育生物学发展生物学

背景情况:

编码环林K的CCNK基因在细胞循环调节中起作用.
参与细胞循环调节的基因突变可能导致神经发育障碍.
与CCNK相关的疾病的临床范围尚未完全理解.

研究的目的:

报告一个新的新型CCNK误解变异.
描述相关的临床表型,包括智力障碍,异形,以及大脑成像发现.
为了解CCNK在神经发育疾病中的作用做出贡献.

主要方法:

基因测序用于识别变异.
对患者的临床评估,包括神经发育评估和体检.
对神经影像检测结果的审查 (心室内).

主要成果:

在CCNK基因中识别出一个新的误解变异.
这位患者呈现出轻度智力障碍.
观察到微妙的异形特征,包括高色和压抑/宽鼻桥.
在神经成像上发现了心室内.

结论:

这个病例扩大了CCNK相关神经发育疾病的临床谱.
这些发现支持cyclin K作为一种疾病基因.
与这种误解变异相关的表型似乎比在CCNK删除中观察到的表型温和得多.

关键词:

在CCNK的CCNK中.基因型表型变异性变异性智力障碍智力障碍是一种智力障碍.腹腔内膜增大症是什么整个exome测序的测序

更多相关视频

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

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

Published on: August 20, 2019

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

相关概念视频

Notch Signaling Pathway

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...

Enzyme-linked Receptors

Enzyme-linked Receptors

Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Genetic Lingo

Genetic Lingo