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相关概念视频

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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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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Mutations01:39

Mutations

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Overview
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Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
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Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

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Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
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Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
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相关实验视频

Updated: Jun 26, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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罕见的生殖系结构变异增加了儿科固体瘤的风险.

Riaz Gillani1,2,3,4, Ryan L Collins2,3,5, Jett Crowdis3

  • 1Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.

bioRxiv : the preprint server for biology
|May 15, 2024
PubMed
概括

罕见的生殖系结构变异 (SVs) 显著增加了儿科固体瘤风险,特别是在男性中. 这项研究强调了SVs,包括大型染色体异常,作为儿童癌症 (如神经母细胞瘤) 的关键遗传因素.

科学领域:

  • 遗传学 遗传学 是一个
  • 儿科瘤学 儿科瘤学
  • 基因组学就是基因组学.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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

  • 儿科固体瘤是一种罕见但致命的儿童恶性瘤.
  • 传统的基因检测只能在10-15%的病例中确定病因,这表明其他因素也参与其中.
  • 生殖系结构变异 (SVs) 是遗传倾向的一个研究不足的领域.

结论:

  • 罕见的生殖系SV被认为是儿科固体瘤的显著诱导因素.
  • 这些发现可能会为未来的研究和儿童癌症的临床诊断策略提供信息.
  • 这项研究强调了调查SVs在儿科癌症遗传学的重要性.