Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Anticoagulant Drugs: Low-Molecular-Weight Heparins

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...

Disorders of Hemostasis

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.

Genetic Lingo

Genetic Lingo

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

Pleiotropy

Pleiotropy

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,...

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Clinicopathological features of lymphocytic thrombophilic arteritis and the relationship with livedoid vasculopathy - a case series of 36 patients.

The British journal of dermatology·2026

Same author

Pyoderma Gangrenosum: Association of Ulcer Size With Clinical Characteristics and Healing Outcomes.

The Australasian journal of dermatology·2026

Same author

Interdisciplinary Management of Concussion in an Adolescent With Type 1 Diabetes Mellitus: Diagnostic Challenges Related to Hypoglycemia and Cognitive Impairment.

Cureus·2026

Same author

Advancing evidence-informed practice in modern zoos: research priorities for animal welfare, conservation, and social legitimacy.

Frontiers in veterinary science·2026

Same author

The role of innovative financing to bridge the gap between implementation and commercialisation.

Malaria journal·2026

Same author

Heat shock protein 70s are modifiers of endothelial function in Fabry disease.

Kidney international·2026

Search research articles

Related Experiment Video

Updated: Jul 14, 2026

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation

Published on: May 23, 2025

Heterozygous prothrombin gene mutation associated with livedoid vasculopathy.

Namrata S Anavekar¹, Robert Kelly

¹Department of Dermatology, St Vincent's Hospital, Melbourne, Victoria, Australia. namrata_anavekar@yahoo.com.au

The Australasian Journal of Dermatology

|May 31, 2007

Summary

A rare prothrombin gene mutation was found in a patient with livedoid vasculopathy. Warfarin treatment improved her condition when other therapies failed, suggesting a link between this mutation and the disease.

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Related Experiment Videos

Last Updated: Jul 14, 2026

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation

Published on: May 23, 2025

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Area of Science:

Vascular Medicine
Hematology
Dermatology

Background:

Livedoid vasculopathy is a rare chronic condition causing painful ulcers, typically on the lower legs.
While several coagulopathic states are linked to livedoid vasculopathy, specific genetic mutations are infrequently identified.

Observation:

A 53-year-old woman presented with chronic, recurrent, painful ulcers on her lower legs, accompanied by unusual deep tender nodules and elbow lesions.
Histopathological examination confirmed livedoid vasculopathy, with investigations revealing a heterozygous prothrombin G2021A gene mutation.

Findings:

The patient's prothrombin G2021A gene mutation is a rare finding in the context of livedoid vasculopathy.
Conventional treatments including anti-inflammatory drugs and other anticoagulants were ineffective for her condition.

Implications:

This case highlights a rare association between prothrombin gene mutation and livedoid vasculopathy.
Warfarin therapy demonstrated significant clinical improvement, suggesting its potential efficacy in managing livedoid vasculopathy associated with this specific genetic mutation.