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相关概念视频

The Ras Gene02:38

The Ras Gene

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The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
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在RASopathies中的生物标志物景观.

Noemi Ferrito1,2,3, Juan Báez-Flores1,2,3, Mario Rodríguez-Martín1,2,3

  • 1Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca (USAL), 37007 Salamanca, Spain.

International journal of molecular sciences
|August 29, 2024
PubMed
概括
此摘要是机器生成的。

拉索病,来自RAS/MAPK路径突变的遗传疾病,表现出各种症状. 生物标志物的发现,包括分子和组织学标志物,是这些条件下更好的诊断和精确医学的关键.

关键词:
拉索病变 (RASopathies) 是一种拉索病变.生物标志物 生物标志物分子签名 分子签名个性化诊断 个性化的诊断精准医学是一门精准医学.

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科学领域:

  • 遗传学和分子生物学
  • 发展生物学 发展生物学
  • 精准医学是一门精准的医学.

背景情况:

  • 拉索病是一种源于RAS/MAPK信号通路的遗传性疾病.
  • 这种途径中的突变会破坏细胞分裂,生长和分化,导致各种健康问题.
  • 诊断和治疗的各种临床表现和挑战需要先进的研究.

研究的目的:

  • 审查RASopathy分子分析的近期进展,超越基因突变.
  • 探索潜在的生物标记物,包括分子,组织学和生理学标记物.
  • 突出未来的生物标志物发现和临床翻译的研究方向.

主要方法:

  • 总结了关于分子形状的发现:mRNAs,非编码RNAs,蛋白质表达和翻译后修改.
  • 审查代谢学在识别疾病特异性代谢特征方面的作用.
  • 检查组织学特征和进行非侵入性生理学评估以识别生物标志物.

主要成果:

  • 最近的发现超越了在RASopathies中的传统基因突变分析.
  • 各种分子标记物 (RNA,蛋白质,代谢物) 和生理评估显示出有希望的结果.
  • 组织学特征也提供了对疾病机制和潜在生物标志物的见解.

结论:

  • 在RASopathies中发现生物标志物对于改善临床实践和了解这些复杂疾病至关重要.
  • 综合分子,组织学和生理学数据的多方面的方法是必不可少的.
  • 严格的验证和临床翻译对于实现这些生物标志物的潜力在精准医学中至关重要.