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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
Extrinsic and Intrinsic Pathways of Hemostasis01:20

Extrinsic and Intrinsic Pathways of Hemostasis

Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which forms a...
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Introduction to Hemostasis01:05

Introduction to Hemostasis

Hemostasis is a complex physiological process that prevents excessive bleeding when a blood vessel is injured. It's crucial for maintaining the integrity of the circulatory system, as it ensures that our blood remains fluid while still within the vascular network and yet clots to prevent blood loss upon vessel injury.
The three phases of hemostasis involve many clotting factors present in plasma and several substances released by platelets and injured tissue cells. It is a fast, localized, and...

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Related Experiment Video

Updated: Jul 1, 2026

Thrombus Profiling Assay: A Microfluidics-Based Platform for Comprehensively Characterizing Biomechanical Thrombogenesis
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Quantitative trait locus analysis for hemostasis and thrombosis.

Qila Sa1, Erika Hart, Annie E Hill

  • 1Department of Molecular Cardiology, Joseph J. Jacobs Center for Thrombosis and Vascular Biology, Cleveland, OH 44195, USA.

Mammalian Genome : Official Journal of the International Mammalian Genome Society
|September 13, 2008
PubMed
Summary

This study identified new genetic loci controlling thrombotic risk using mouse models. Researchers discovered novel quantitative trait loci (QTLs) and candidate genes influencing blood clot stability and bleeding times.

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RNA-seq Analysis of Transcriptomes in Thrombin-treated and Control Human Pulmonary Microvascular Endothelial Cells
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RNA-seq Analysis of Transcriptomes in Thrombin-treated and Control Human Pulmonary Microvascular Endothelial Cells

Published on: February 13, 2013

Area of Science:

  • Genetics
  • Thrombosis Research
  • Mammalian Genetics

Background:

  • Thrombotic risk exhibits variability across human populations and inbred mouse strains.
  • Understanding the genetic underpinnings of thrombosis is crucial for developing targeted therapies.
  • Previous work identified three mouse chromosome substitution strains (CSS) using a tail-bleeding/rebleeding assay.

Purpose of the Study:

  • To characterize the genetic control of thrombotic risk across three mouse chromosomes.
  • To identify novel quantitative trait loci (QTLs) and candidate genes associated with bleeding and clot stability.
  • To investigate potential interactions between genetic loci influencing thrombotic risk.

Main Methods:

  • Utilized a tail-bleeding/rebleeding assay as a functional surrogate for hemostasis and thrombosis.
  • Performed quantitative trait locus (QTL) analysis on mouse chromosome substitution strains (CSS).
  • Identified candidate genes on mouse chromosome 17 by examining synteny with human chromosome 18 loci.

Main Results:

  • A significant QTL for rebleeding (clot stability) time was identified on chromosome 5.
  • Suggestive loci for bleeding time and clot stability were found on chromosomes 5, 11, and 17.
  • The studied CSS and the parent A/J strain exhibited elevated clot stability times.
  • No significant gene interactions were observed between chromosomes 11 and either chromosome 5 or 17.
  • Twenty-three candidate genes on chromosome 17 were identified in synteny with human thrombotic risk loci.

Conclusions:

  • New QTLs influencing thrombotic risk have been identified.
  • Novel candidate genes associated with blood clot formation and dissolution were discovered.
  • This research provides a foundation for further investigation into the genetic basis of thrombosis.