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The SERPINE1 gene, also known as the serpin peptidase inhibitor clade E member 1 gene, encodes the protein plasminogen activator inhibitor-1 (PAI-1). PAI-1 is an inhibitor of plasminogen activators and plays a crucial role in preventing excessive fibrinolysis in the body.

Deficiency or changes in the SERPINE1 gene can lead to a condition known as PAI-1 deficiency. This genetic disorder is associated with an increased risk of blood-related diseases, including thrombosis.

Scientific research on the SERPINE1 gene and its role in various health conditions is ongoing. Additional resources and information on this gene can be found in databases such as OMIM, PubMed, and related scientific publications.

For complete genetic testing and information on other listed genes and conditions, people may refer to the catalog of genetic tests and the Genetic Testing Registry.

References:

1. Shapiro AD. Deficiencies of plasminogen activator inhibitor-1 and alpha 2-antiplasmin. Semin Thromb Hemost. 1995;21(1):14-20. doi:10.1055/s-2007-999288

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Genetic changes in the SERPINE1 gene have been associated with various health conditions. These changes can be identified through genetic testing and can provide valuable information on the risk and management of certain disorders.

  • Plasminogen Activator Inhibitor-1 Deficiency: Certain genetic variants in the SERPINE1 gene can result in a deficiency of plasminogen activator inhibitor-1 (PAI-1), a protein that helps regulate blood clotting. This deficiency has been linked to an increased risk of thrombosis and cardiovascular diseases.
  • Thrombophilia: Genetic changes in the SERPINE1 gene can also contribute to thrombophilia, a disorder characterized by an increased tendency to form blood clots. These changes can affect the balance of clot formation and dissolution in the body, leading to an increased risk of clotting disorders.
  • Other Health Conditions: In addition to the aforementioned conditions, variations in the SERPINE1 gene have been associated with other disorders such as chronic obstructive pulmonary disease (COPD), vascular dementia, and certain types of cancer.

To explore these genetic changes further, databases and resources like OMIM, PubMed, and the Genetic Testing Registry can provide a wealth of information. These sources list scientific articles, references, and additional resources related to the role of the SERPINE1 gene and its associated proteins in various health conditions. Researchers and healthcare professionals can use this information to better understand the genetic basis of diseases and develop strategies for prevention and treatment.

Genetic testing can play a crucial role in identifying genetic variants in the SERPINE1 gene. These tests involve analyzing a person’s DNA, typically obtained from a blood sample, to detect specific changes that may be associated with certain health conditions. By identifying these genetic changes, individuals and healthcare providers can make informed decisions about their health and the management of related disorders.

In conclusion, genetic changes in the SERPINE1 gene can have a significant impact on an individual’s health. By understanding the role of this gene and its associated proteins in different diseases, healthcare professionals can develop strategies for prevention, diagnosis, and treatment. Genetic testing and resources like databases and scientific articles provide valuable information for further research and understanding of these genetic changes and their implications for human health.

Complete plasminogen activator inhibitor 1 deficiency

Complete plasminogen activator inhibitor 1 deficiency is a genetic disorder that affects the body’s ability to regulate blood clotting. This condition is caused by changes (mutations) in the SERPINE1 gene, which provides instructions for making the plasminogen activator inhibitor-1 protein.

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The plasminogen activator inhibitor-1 protein is responsible for preventing the breakdown of blood clots. Without this protein, the body’s ability to dissolve blood clots is impaired, leading to an increased risk of excessive clot formation.

Complete plasminogen activator inhibitor 1 deficiency is a rare condition, and fewer than 100 cases have been reported worldwide. The exact prevalence of this disorder is unknown.

People with complete plasminogen activator inhibitor 1 deficiency are at an increased risk of developing blood clots in deep veins, such as the legs (deep vein thrombosis). These blood clots can travel to the lungs and cause a life-threatening condition called pulmonary embolism. Individuals with this deficiency may also be prone to recurrent miscarriages in females and impaired wound healing.

Diagnosis of complete plasminogen activator inhibitor 1 deficiency is typically confirmed through genetic testing. Testing the SERPINE1 gene can identify genetic changes that cause this disorder.

Treatment for complete plasminogen activator inhibitor 1 deficiency may involve management of blood clotting through the use of anticoagulant medications. Depending on the individual’s specific symptoms and medical history, additional interventions may also be necessary.

For more information on complete plasminogen activator inhibitor 1 deficiency, please refer to the following resources:

  • – OMIM (Online Mendelian Inheritance in Man): Provides information on genetic disorders, including complete plasminogen activator inhibitor 1 deficiency.
  • – PubMed: Offers scientific articles related to the role of plasminogen activator inhibitor 1 in the body and its association with various diseases and conditions.
  • – Genetic and Rare Diseases Information Center: Contains information on the genetic changes, symptoms, and treatment options for complete plasminogen activator inhibitor 1 deficiency.
  • – The Human Gene Mutation Database (HGMD): Lists genetic changes associated with complete plasminogen activator inhibitor 1 deficiency and other related disorders.
  • – The Human Genome Variation Society (HGVS): Provides a comprehensive catalog of genetic variant names and their associated information.

Other Names for This Gene

The SERPINE1 gene is also known by several other names:

  • Plasminogen Activator Inhibitor-1 (PAI-1)
  • Endothelial Plasminogen Activator Inhibitor (EPAI)
  • PAI-1 Antigen
  • PAI-1 Protein
  • SERPINE1

This gene plays a crucial role in preventing excessive blood clotting by inhibiting the activity of plasminogen activators – proteins that promote the breakdown of blood clots. The SERPINE1 gene has been linked to various health conditions and disorders, including changes in blood clotting, cardiovascular diseases, and other genetic disorders.

Additional information about this gene, including related articles, catalogs of genetic testing laboratories, and resources for genetic testing, can be found on databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a complete list of genetic variants, scientific articles, and references related to the SERPINE1 gene.

Genetic tests for SERPINE1 gene deficiency and other related conditions are available for people who suspect they may have genetic changes in this gene. Genetic testing can provide valuable information about an individual’s genetic makeup and help in diagnosing and managing certain genetic disorders.

When searching for information on SERPINE1 gene and its related conditions, it is important to use the various names and synonyms associated with the gene, as listed above. This will ensure a more comprehensive search and access to a wider range of scientific resources and articles.

Additional Information Resources

For additional information on the SERPINE1 gene and its role in preventing diseases, the following resources may be helpful:

  • Scientific Articles: Numerous scientific articles are available on PubMed that provide in-depth information on the SERPINE1 gene, its genetic variants, and its role as a plasminogen activator inhibitor-1.

  • Genetic Testing: Various genetic testing services and laboratories offer testing for gene changes or deficiencies in the SERPINE1 gene. These tests can provide valuable information on an individual’s genetic predisposition to certain health conditions.

  • Omim Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that provides detailed information on genetic disorders and the genes associated with them. It includes information on SERPINE1-related conditions and their genetic variants.

  • Registry: The SERPINE1 Registry is a database that collects information on people with SERPINE1-related disorders. It serves as a valuable resource for researchers and healthcare professionals studying these conditions.

  • Related Genes and Proteins: Other genes and proteins belonging to the same clade or involved in similar conditions as SERPINE1 may provide further insights into its function and the role of plasminogen activators in the body.

  • References: Published articles and research papers that reference SERPINE1 and its functions can be a valuable source of information on its role in health and disease.

  • Online Databases: Various online databases, such as GenBank and Ensembl, provide complete genetic information for the SERPINE1 gene, including its sequence, structural features, and associated genetic variants.

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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various conditions. It serves as a central catalog of genetic tests from different laboratories and can be used by healthcare providers, researchers, and the general public.

Tests listed in the GTR focus on genetic changes in the SERPINE1 gene. This gene provides instructions for making a protein called plasminogen activator inhibitor-1 (PAI-1). PAI-1 is one of the proteins involved in preventing the breakdown of blood clots.

Changes in the SERPINE1 gene can lead to a condition called PAI-1 deficiency. This genetic disorder is associated with an increased risk of thrombotic diseases, which are conditions related to blood clot formation. The GTR lists tests that can detect variations in the SERPINE1 gene to determine if a person has PAI-1 deficiency.

The GTR provides additional resources for this genetic disorder, such as references to scientific articles in PubMed and related databases. These resources offer more information on the role of the SERPINE1 gene, PAI-1, and their connection to various health conditions.

Additionally, the GTR lists other genetic tests related to conditions involving inhibitors and activators of plasminogen. This includes tests for various genetic changes in genes other than SERPINE1, providing a comprehensive catalog of tests for different disorders.

Overall, the GTR serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic tests for SERPINE1 gene variants and other related conditions.

Scientific Articles on PubMed

From the role of the SERPINE1 gene in preventing blood clotting to the complete information on genetic changes related to SERPINE1 deficiency, PubMed provides a wealth of scientific articles on this topic. The SERPINE1 gene, also known as plasminogen activator inhibitor-1 (PAI-1), belongs to the serpin clade E subgroup and plays a crucial role in regulating the body’s fibrinolytic system. Dysfunction of this gene can lead to various disorders and conditions, such as PAI-1 deficiency or excess.

The PubMed database serves as a comprehensive catalog of scientific articles related to the SERPINE1 gene and its functions. Researchers and health professionals can find additional resources, including genetic tests, related genes, and various diseases and conditions associated with SERPINE1. The database also provides references and names of other proteins and activators that are involved in the regulation of the fibrinolytic system.

For instance, one study listed on PubMed explores the relationship between a variant in the SERPINE1 gene and blood clotting disorders. Another article discusses the impact of genetic changes in SERPINE1 on the body’s response to fibrinolytic therapy. These articles provide valuable insights into the molecular mechanisms and clinical implications of SERPINE1-related disorders.

In addition to scientific articles, PubMed also provides information from other databases such as OMIM (Online Mendelian Inheritance in Man) and Gene Cards. These resources further enhance the understanding of SERPINE1 and its related diseases, offering a comprehensive overview of the current knowledge in the field.

In conclusion, PubMed serves as an invaluable source of scientific articles on the SERPINE1 gene and its related disorders. Whether you are a researcher, healthcare professional, or simply interested in this field, PubMed offers a wealth of information to explore and expand our knowledge of the role of SERPINE1 in health and disease.

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Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs information about genes and genetic disorders. It provides scientific and clinical information on various genetic conditions and the genes that are associated with them. The catalog includes a wide range of genes and diseases, including the SERPINE1 gene.

The SERPINE1 gene, also known as plasminogen activator inhibitor-1 (PAI-1), plays a crucial role in regulating the blood clotting process. Changes in this gene can lead to an increased risk of developing certain disorders and conditions. The OMIM registry provides complete information on the genetic changes associated with PAI-1 deficiency and related conditions.

In addition to the SERPINE1 gene, the OMIM catalog includes information on many other genes and their associated disorders. These genes and disorders are listed in a structured manner, making it easy for researchers and healthcare professionals to access relevant information.

The catalog provides references to scientific articles, databases, and other resources that contain information about the genes and disorders. This allows users to explore more about the genes and disorders of interest and stay updated with the latest research in the field.

OMIM is a valuable resource for individuals and healthcare providers seeking genetic information. It can help in understanding the role of genes in health and disease, genetic testing, and identifying potential treatments or preventive measures.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals studying the SERPINE1 gene and its associated variants. These databases provide a comprehensive catalog of genes, variants, and related information that can assist in understanding the role of the SERPINE1 gene in preventing disorders and regulating various biological processes.

One of the most widely used databases is PubMed, which contains a vast collection of scientific articles and references on genes, variants, and their functions. Researchers can find relevant studies, clinical trials, and genetic changes associated with SERPINE1 deficiency and related conditions.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource. It provides detailed information on genetic disorders and their associated genes, including SERPINE1. OMIM contains data on the inheritance pattern, clinical features, and references to scientific articles related to SERPINE1 deficiency and other diseases.

In addition to these databases, there are also specific gene and variant databases that focus on SERPINE1 and related proteins. The SERPINE1 gene is responsible for encoding the plasminogen activator inhibitor-1 (PAI-1) protein, which plays a crucial role in regulating blood clotting and other biological processes.

The SERPINE1 Gene and Variant Database provides a comprehensive list of genetic changes, variants, and associated conditions. It includes information on testing procedures, laboratory methods, and available resources for people interested in learning more about PAI-1 deficiency and related disorders.

Another valuable resource is the SERPINE1 Registry, which serves as a centralized repository for data on individuals with genetic changes in the SERPINE1 gene. The registry collects clinical information, genetic test results, and health outcomes to facilitate research and improve understanding of PAI-1 deficiency and its impact on individuals’ health.

Overall, gene and variant databases play a crucial role in advancing scientific knowledge and understanding of the SERPINE1 gene and its associated variants. These resources provide researchers and healthcare professionals with access to comprehensive information, references, and testing protocols to aid in the diagnosis and management of genetic disorders.

References

  • Clade, P. (1997). SERPINE1 Gene. GeneCards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINE1
  • Genetic Testing Registry. (n.d.). SERPINE1 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/5053/
  • OMIM (Online Mendelian Inheritance in Man). (n.d.). SERPINE1 gene. Retrieved from https://omim.org/entry/173360
  • Plasminogen activator inhibitor-1 deficiency. (n.d.). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/plasminogen-activator-inhibitor-1-deficiency
  • Shapiro, A. D. (2008). Genetic Testing for Disorders of Hemostasis. In Consultative Hemostasis and Thrombosis (pp. 257-267). Elsevier.
  • Variant ID: 5053. (n.d.) Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=5053

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