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

Psychological and Sociocultural Causes of Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

838
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
838
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

109
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
109
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

2.4K
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
2.4K
Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

1.0K
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
1.0K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.2K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.2K
Complement System01:27

Complement System

12.4K
The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a...
12.4K

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

iAstrocytes model cytokine influences on complement expression and neuronal network synchronization.

bioRxiv : the preprint server for biology·2026
Same author

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration.

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

Co-occurring clonal hematopoiesis exhibits strong selection and high leukemia risk.

Nature communications·2026
Same author

Protein-guided RNA barcoding links transcriptomes to synaptic architecture.

bioRxiv : the preprint server for biology·2026
Same author

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

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

Engulfment by brain macrophages in a short-lived vertebrate.

bioRxiv : the preprint server for biology·2026

相关实验视频

Updated: Mar 26, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K

由于补充成分4的复杂变异而导致精神分裂症的风险

Aswin Sekar1,2,3, Allison R Bialas4,5, Heather de Rivera1,2

  • 1Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.

Nature
|January 28, 2016
PubMed
概括

补充成分4 (C4) 基因的遗传变异与精神分裂症有关. 较高的C4A表达与精神分裂症风险相关,这表明过度补充活性有助于这种大脑疾病.

更多相关视频

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.9K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K

相关实验视频

Last Updated: Mar 26, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.9K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K

科学领域:

  • 神经科学
  • 遗传学
  • 免疫学

背景情况:

  • 精神分裂症是一种遗传性脑部疾病,
  • 主性组织相容性复合体 (MHC) 位点显示出与精神分裂症最强烈的遗传联系.
  • 在MHC位点内确定特定的基因和机制是困难的.

研究的目的:

  • 研究补充成分4 (C4) 基因在精神分裂症发病过程中的作用.
  • 确定C4基因变异如何影响大脑中的C4A和C4B表达.
  • 探索C4在神经发育和突触调节中的功能影响.

主要方法:

  • 对多种补充成分4 (C4) 基因等位体的分析.
  • 在脑组织中量化C4A和C4B基因表达.
  • 人类C4蛋白在神经元结构中的局部化研究.
  • 在小鼠模型中对突触消除中的C4功能进行实验研究.

主要成果:

  • 在C4基因的结构变异有助于精神分裂症的关联.
  • 在大脑中表现出C4A和C4B的差异.
  • 较高的C4A表达水平与精神分裂症风险增加有关.
  • 在神经突触中发现C4蛋白,在小鼠中介于突触消除.

结论:

  • 由C4基因变异驱动的过度补充系统活动与精神分裂症的发展有关.
  • 这些发现提供了将MHC遗传与精神分裂症联系起来的分子机制.
  • 精神分裂症的突触密度降低可能与异常的C4介导突触消除有关.