Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.

Circulation·2026
Same author

Harmonizing standards and resources for the medical genome.

Nature·2026
Same author

Population-scale detection of methylation outliers from long-read genome sequencing.

medRxiv : the preprint server for health sciences·2026
Same author

Correction to: The Natural History of Massive Left Ventricular Hypertrophy in Pediatric Hypertrophic Cardiomyopathy: A Multiregistry Analysis.

Circulation·2026
Same author

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing.

Genome biology·2026
Same author

Grounding Language Models in Behavioral Science to Scale Physical Activity Interventions for Hispanic/Latinx Populations.

medRxiv : the preprint server for health sciences·2026

相关实验视频

Updated: Jun 21, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
07:43

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

11.2K

通过单核转录基因分析解读CSF1R相关疾病的质贡献:一个案例研究.

Jie Pan1, Jaume Fores-Martos1, Claire Delpirou Nouh2

  • 1Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.

Acta neuropathologica communications
|August 31, 2024
PubMed
概括

与CSF1R相关的疾病包括白质变性. 发现了一种新型的CSF1R基因删除,揭示了与疾病相关的微状况和受损的寡干细胞前体细胞分化,突出了神经退行症中的微-寡干细胞交叉.

关键词:
在美国,ALSP是ALSP.在CSF1R中,CSF1R是最重要的.GPNMBMB GPNMB是什么意思这就是HDLS HDLS.在白血病中,白血病缩症 (leukodystrophy) 是一种疾病.巨细胞是一个巨细胞.微质细胞中的微质细胞在OPC中,OPC是OPC.基体细胞的基体细胞

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 Malformations
08:22

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

8.6K
Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease
04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

787

相关实验视频

Last Updated: Jun 21, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
07:43

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

11.2K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

8.6K
Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease
04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

787

科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 是一个遗传学.
  • 细胞生物学 细胞生物学

背景情况:

  • 与CSF1R相关的疾病 (CSF1R-RD) 是一种影响白质的神经退行性疾病,与微质表达的CSF1R基因的遗传改变有关.
  • 一位老年患者出现了渐进性痴呆症,最初对常见的白血病和神经退行性疾病负面.

研究的目的:

  • 调查怀疑CSF1R-RD.患者白质退化的潜在机制.
  • 为了确定成年人发病的白细胞大脑病变的遗传原因和细胞病理,与轴突球体和色素质细胞 (ALSP).

主要方法:

  • 大脑尸检以确定与ALSP/CSF1R-RD一致的病理特征.
  • 长读测序用于检测CSF1R基因中的遗传改变.
  • 单核RNA测序 (snRNAseq) 用于表征受影响大脑区域的细胞状态.

主要成果:

  • 尸体解剖显示了ALSP特征,证实了CSF1R-RD. 发现了一种新的CSF1R删除,短读序列错过了它.
  • 在大脑区域观察到CSF1R转录和蛋白质水平下降.
  • snRNAseq确定了与疾病相关的显著微状况 (含脂和炎症) 和受损的寡基细胞前体细胞 (OPC) 分化.

结论:

  • CSF1R功能障碍驱动特定的微质状态,并阻碍OPC分化,导致寡细胞枯竭和白质变性.
  • 微质-寡质质交叉是CSF1R-RD中脱髓化的一个关键机制.
  • 长读数测序对于检测复杂的遗传变异至关重要,例如CSF1R-RD中的删除.