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相关概念视频

Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
PI3K/mTOR/AKT Signaling Pathway01:22

PI3K/mTOR/AKT Signaling Pathway

The mammalian target of rapamycin  (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1  (mTORC1) and mTOR complex 2  (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast,  mTORC2 consists of a rapamycin-insensitive companion...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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Pulmonary Tuberculosis III

Tuberculosis (TB) is a contagious infection primarily affecting the lung parenchyma but which can also affect other body parts. TB can be classified based on disease development, presentation, and the affected anatomical site.
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相关实验视频

Updated: Jul 2, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

结核性硬化 - 结核性硬化

Paolo Curatolo1, Roberta Bombardieri, Sergiusz Jozwiak

  • 1Department of Neurosciences, Paediatric Neurology Unit, Tor Vergata University, Rome, Italy.

Lancet (London, England)
|August 30, 2008
PubMed
概括
此摘要是机器生成的。

结核性硬化是一种遗传性疾病,由于TSC1和TSC2基因的突变,导致多个器官的瘤. 了解这些分子变化是管理严重病例和改善患者结果的关键.

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Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
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Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

Published on: March 24, 2023

相关实验视频

Last Updated: Jul 2, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
08:07

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

Published on: March 24, 2023

科学领域:

  • 遗传学 是一个遗传学.
  • 分子生物学分子生物学
  • 医学科学 医学科学 医学科学

背景情况:

  • 结核性硬化是一种遗传多系统性疾病,其特点是大脑,心脏,皮肤和脏等器官的瘤.
  • 它是由TSC1和TSC2基因的突变引起的,TSC1和TSC2基因对哈马丁和结核素进行编码.
  • 哈马丁-图贝林复合体通常会抑制哺乳动物向拉巴胺素 (mTOR) 途径,这对于细胞生长至关重要.

研究的目的:

  • 概括结核性硬化症的遗传基础和临床表现.
  • 要突出TSC1/TSC2-hamartin-tuberin-mTOR通路的作用. 这是一个很好的例子.
  • 强调早期识别有严重疾病风险的患者的必要性.

主要方法:

  • 审查现有的关于结核性硬化遗传学和临床表现的文献.
  • 对涉及TSC1,TSC2和mTOR通路的分子机制的分析.
  • 讨论诊断挑战和风险分层的重要性.

主要成果:

  • 结核性硬化是由影响细胞生长调节的基因突变引起的.
  • 临床表现因病变分布和遗传因素而有很大差异.
  • 目前的诊断方法对于早期检测是有限的,因为症状出现在三岁之后.

结论:

  • 了解结核性硬化症的分子基础对于开发向疗法至关重要.
  • 早期识别有风险的个体对于管理严重症状至关重要.
  • 对分子异常的进一步研究可能会导致改善疾病管理策略.