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相关概念视频

Elastin is Responsible for Tissue Elasticity01:12

Elastin is Responsible for Tissue Elasticity

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Elastic fiber contains the protein elastin along with lesser amounts of other proteins and glycoproteins. The main property of elastin is that it will return to its original shape after being stretched or compressed. Elastic fibers are prominent in elastic tissues found in skin and the elastic ligaments of the vertebral column.
Ligaments and tendons are made of dense regular connective tissue, but in ligaments not all fibers are parallel. Dense regular elastic tissue contains elastin fibers and...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

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Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can...
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Elasticity in Concrete01:20

Elasticity in Concrete

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Upon subjecting concrete to moderate or high uniaxial compressive or tensile stresses, the strain response is non-linear relative to the stress applied. As the stress is removed, the resulting stress-strain curve deviates from the original path traced during loading, creating a hysteresis loop, indicative of the concrete's non-linear and non-elastic properties. Typically, a material's modulus of elasticity, which is a measure of the material's stiffness, is inferred from the linear...
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Fibril-associated Collagen01:11

Fibril-associated Collagen

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Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
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Fibrous Proteins00:55

Fibrous Proteins

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Fibrous proteins are either long and narrow proteins or assemble to form long and thin structures. They contain repetitive units and usually consist of either alpha helices or beta sheets and, in rare cases, a mix of both. The amino acids in the primary structure often consist of repeating amino acid sequences. The role of fibrous proteins is primarily structural. Many are located in the extracellular matrix and are present in connective tissues to impart strength and joint mobility. They are...
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相关实验视频

Updated: Jun 6, 2025

Assessing Collagen and Elastin Pressure-dependent Microarchitectures in Live, Human Resistance Arteries by Label-free Fluorescence Microscopy
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Assessing Collagen and Elastin Pressure-dependent Microarchitectures in Live, Human Resistance Arteries by Label-free Fluorescence Microscopy

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与弹性质变化相关的表型发现.

Anne Justice1, Melissa A Kelly2, Gary Bellus3

  • 1Department of Population Health, Geisinger, Danville, PA, USA.

HGG advances
|November 28, 2024
PubMed
概括

弹性质基因 (ELN) 的罕见变异与连接组织疾病有关,包括动脉剖析,超出了以前已知的条件. 这一发现扩大了我们对ELN的理解.

关键词:
一大动脉过度膨胀症动脉扩张和动脉动脉瘤.动脉剖析 动脉剖析是什么结合组织结合组织.弹性弹性纤维是一种弹性.上动脉大动脉狭窄症.

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Non-contact, Label-free Monitoring of Cells and Extracellular Matrix using Raman Spectroscopy
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Non-contact, Label-free Monitoring of Cells and Extracellular Matrix using Raman Spectroscopy

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Quantifying the Modulation of Elastase Enzyme Activity Through Colorimetric Analysis
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相关实验视频

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Assessing Collagen and Elastin Pressure-dependent Microarchitectures in Live, Human Resistance Arteries by Label-free Fluorescence Microscopy
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Non-contact, Label-free Monitoring of Cells and Extracellular Matrix using Raman Spectroscopy
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Quantifying the Modulation of Elastase Enzyme Activity Through Colorimetric Analysis
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科学领域:

  • 遗传学 遗传学 是一个
  • 心血管医学 心血管医学
  • 结合组织疾病 结合组织疾病

背景情况:

  • 已知弹性素基因 (ELN) 与上大动脉狭窄和切口松有关.
  • 对于ELN变异对其他连接组织疾病的潜在贡献尚未完全理解.

研究的目的:

  • 为了研究罕见的ELN变体和连接组织疾病之间的关联,超出已建立的表型.
  • 为了确定与ELN变异相关的新型临床表现.

主要方法:

  • 来自MyCode社区健康倡议的exome数据被分析为罕见的ELN变体.
  • 有鉴定变异的参与者通过图表审查进行了详细的表型鉴定.
  • 一项全现象关联研究 (PheWAS) 使用ELN基因负担得分进行.

主要成果:

  • 在超过184,000个人中,发现了296名患有罕见ELN变异的参与者.
  • 41%的符合条件的参与者表现出连接组织异常,包括大动脉缺血,动脉扩张,动脉瘤和剖析.
  • ELN的变化与动脉剖析有显著的关联 (p < 2.8 × 10−5) 并接近其他两个连接组织Phecodes的显著性.

结论:

  • ELN变异与比以前认可的更广泛的连接组织病理学谱系有关.
  • 这些发现突出了ELN作为各种连接组织疾病的重要贡献者,包括动脉剖析.