The TBXAS1 gene, also known as thromboxane A synthase 1, is involved in the production of thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation in the blood. Mutations in this gene have been associated with various conditions such as hematodiaphyseal dysplasia and Ghosal hematodiaphyseal dysplasia. Testing for mutations in the TBXAS1 gene can be done through genetic tests to determine the presence of these mutations, which can be helpful in diagnosing related diseases.
Articles and scientific resources on the TBXAS1 gene are listed in databases such as PubMed and OMIM. These resources provide information on the genetic changes and variant forms of TBXAS1, as well as its role in health and diseases. Tests for TBXAS1 gene mutations can be found in genetic testing catalogs, and additional references and information can be found in the scientific literature.
The TBXAS1 gene is responsible for the production of the enzyme thromboxane A synthase 1, which reduces vasoconstriction and platelet aggregation. Changes in this gene can lead to alterations in the production and function of thromboxane A2, which can have implications for various health conditions. Therefore, understanding the genetic changes in the TBXAS1 gene and testing for these mutations can provide valuable insights into the development and progression of related diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the TBXAS1 gene can lead to various health conditions. TBXAS1 is a gene that provides instructions for making an enzyme called thromboxane A synthase 1. This enzyme is involved in the production of thromboxane, a molecule that promotes vasoconstriction and platelet aggregation.
Changes in the TBXAS1 gene can result in alterations in the function of the enzyme. These changes can affect the balance of thromboxane production and lead to different diseases and conditions.
Some of the health conditions related to genetic changes in TBXAS1 include:
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- Hematodiaphyseal dysplasia, an X-linked recessive bone disease: This condition is caused by mutations in the TBXAS1 gene that result in reduced enzyme function. The reduced enzyme activity impairs bone remodeling and leads to abnormal bone development.
- Other bone diseases: Genetic changes in TBXAS1 may also be associated with other bone disorders that affect bone health and development.
- Thromboxane-related disorders: Genetic changes in TBXAS1 can lead to problems in the regulation of thromboxane production, which may result in abnormal blood clotting and increased risk of cardiovascular diseases.
These health conditions can be diagnosed through genetic testing. A variety of resources are available for additional information and scientific articles related to TBXAS1 and the associated diseases and conditions. These resources include publications listed in scientific databases such as PubMed and OMIM, as well as disease-specific registries and databases.
Genetic tests for TBXAS1 gene changes can be performed to identify specific variants and provide information about an individual’s risk and potential health outcomes. Additionally, these tests can help with the identification of affected individuals and guide appropriate management and treatment options.
References:
- Ghosal, S. (2017). Hematodiaphyseal dysplasia. In GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK3989/
- OMIM. (2021). TBXAS1 gene. Retrieved from https://omim.org/entry/274180
- PubMed. (2021). TBXAS1 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=tbxas1
Ghosal hematodiaphyseal dysplasia
Ghosal hematodiaphyseal dysplasia is a genetic condition characterized by changes in the TBXAS1 gene. This gene codes for an enzyme called thromboxane synthase, which is involved in the production of thromboxane, a molecule that regulates vasoconstriction and platelet aggregation.
Individuals with Ghosal hematodiaphyseal dysplasia have a variant in the TBXAS1 gene that reduces the activity of thromboxane synthase. This reduction in activity leads to changes in bone cells, resulting in bone abnormalities and other related conditions.
For additional information on Ghosal hematodiaphyseal dysplasia, you can refer to scientific articles, databases, and genetic resources. Some of the databases and resources that provide information on this condition include:
- PubMed: A database of scientific articles that provides references to studies and articles related to Ghosal hematodiaphyseal dysplasia.
- OMIM: An online catalog of genetic conditions that provides information on the genes and conditions associated with Ghosal hematodiaphyseal dysplasia.
- Registry of Genes and Genetic Conditions (GeneReviews): A comprehensive resource that provides detailed information on genes and genetic conditions, including Ghosal hematodiaphyseal dysplasia.
Testing for Ghosal hematodiaphyseal dysplasia and other related conditions may involve genetic testing to identify changes in the TBXAS1 gene. Other tests, such as imaging tests, may also be conducted to evaluate bone abnormalities.
It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, personalized management, and up-to-date information on treatment options.
Other Names for This Gene
The TBXAS1 gene is also known by other names:
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Additional Information Resources
Here is additional information and resources related to the TBXAS1 gene:
- Hematodiaphyseal Dysplasia: This genetic condition is caused by changes (variants) in the TBXAS1 gene. It affects bone health and reduces vasoconstriction, which is the narrowing of blood vessels. More information about this condition can be found in the OMIM database.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on genes, genetic conditions, and related references. OMIM can be accessed online for more information on TBXAS1 and hematodiaphyseal dysplasia.
- Scientific Publications: PubMed is a database of scientific articles and publications. Searching for “TBXAS1” or “hematodiaphyseal dysplasia” on PubMed can provide more scientific references and articles related to this gene and condition.
- Genetic Testing: Genetic testing is available for detecting variants in the TBXAS1 gene. It can be helpful in diagnosing hematodiaphyseal dysplasia and other related conditions. Genetic testing can be conducted by various laboratories and clinics, which can be found through online databases and resources.
- Other Resources: There are other resources available for information on TBXAS1 and related conditions. These include online databases, registries, and health organizations that provide information on genes, genetic conditions, and testing options.
For more information and references, please refer to the listed resources and conduct further research on TBXAS1 and hematodiaphyseal dysplasia.
Tests Listed in the Genetic Testing Registry
Tests listed in the Genetic Testing Registry (GTR) provide information related to the TBXAS1 gene and its associated conditions. The TBXAS1 gene is involved in the aggregation of cells and is specifically related to a condition called hematodiaphyseal dysplasia, which affects bone development.
In the GTR, you can find additional information on testing for TBXAS1 gene variant changes associated with hematodiaphyseal dysplasia, as well as other genetic tests for various diseases and conditions. These tests can help in diagnosing and managing the health of individuals with changes in the TBXAS1 gene.
The GTR offers a comprehensive catalog of genetic tests, including information on the genes, enzymes, and vasoconstriction pathways involved in thromboxane synthesis. This information can be useful for healthcare providers and researchers looking for scientific resources and references.
The GTR includes references to articles and studies published on PubMed and other databases, which further provide insights into the TBXAS1 gene and its role in hematodiaphyseal dysplasia and other related conditions.
For more information on testing options and resources, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the TBXAS1 gene, including associated variant changes and their impact on health.
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Scientific Articles on PubMed
PubMed is a database that provides access to a wealth of scientific articles on various topics, including genetic research. In the case of the TBXAS1 gene, which is associated with a condition called hematodiaphyseal dysplasia, PubMed can be a valuable resource for finding relevant scientific articles.
Genetic testing can be used to identify changes in the TBXAS1 gene, which is responsible for coding an enzyme called thromboxane synthase. This enzyme plays a role in vasoconstriction, or the narrowing of blood vessels.
Scientific articles listed on PubMed can provide additional information on this gene and its variant forms. They may also explore the changes and effects of genetic variations in the TBXAS1 gene.
For individuals with hematodiaphyseal dysplasia or other related conditions, PubMed can be a valuable resource for finding scientific articles on the topic. These articles may provide insights into the genetic basis of the condition, potential treatments, and the latest research findings.
In addition to PubMed, other databases and registries, such as OMIM (Online Mendelian Inheritance in Man), can also provide information on genetic conditions related to TBXAS1 and other genes. These resources can help researchers and healthcare professionals stay updated on the latest scientific findings and testing options.
Overall, PubMed is a comprehensive catalog of scientific articles that can provide valuable information on the TBXAS1 gene, hematodiaphyseal dysplasia, and related conditions. It is an important tool for researchers, healthcare professionals, and individuals seeking information on these topics.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive collection of information on genes and diseases related to the TBXAS1 gene. This gene is involved in thromboxane synthesis, which reduces bone health and causes changes in vasoconstriction and platelet aggregation. Mutations in the TBXAS1 gene have been linked to a condition called hematodiaphyseal dysplasia.
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- OMIM: The OMIM database is a valuable resource for information on genetic conditions and the genes involved. It provides detailed information on the TBXAS1 gene and the diseases associated with it. OMIM can be accessed at https://www.omim.org.
- PubMed: PubMed is a scientific database that contains a vast collection of articles related to genetics, diseases, and other health-related topics. It includes references to publications that discuss the TBXAS1 gene and its role in various diseases. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov.
- Genetic Testing: There are various genetic testing resources available for the TBXAS1 gene. These tests can detect changes or mutations in the gene and provide information on specific diseases or conditions associated with these changes. Additional information on testing for TBXAS1 gene variants can be found on genetic testing websites and through healthcare providers.
The catalog also includes information on other genes and diseases related to TBXAS1. It provides a comprehensive list of conditions listed in the OMIM database that have been linked to changes in the TBXAS1 gene. The catalog can be used to access detailed information on these conditions, along with references to scientific articles and databases.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare providers, and individuals interested in understanding the role of the TBXAS1 gene in health and disease. It provides a comprehensive collection of information on genes, diseases, and related conditions, making it a valuable tool for scientific research and medical practice.
Gene and Variant Databases
The TBXAS1 gene, also known as thromboxane A synthase 1 gene, is associated with a condition called hematodiaphyseal dysplasia. This gene codes for an enzyme called thromboxane synthase, which plays a role in vasoconstriction and platelet aggregation. Mutations in the TBXAS1 gene can lead to reduced enzyme activity, resulting in abnormal bone development and other related problems.
There are several databases and resources available for genetic testing and information on the TBXAS1 gene and its variants. These databases provide a wealth of scientific articles and references related to TBXAS1 and its associated diseases. Some of the notable databases and resources include:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic disorders, including hematodiaphyseal dysplasia and other conditions associated with the TBXAS1 gene.
- PubMed: PubMed is a widely used database for scientific literature, and it contains numerous articles and studies related to TBXAS1 and its variants.
- Genetic Testing Registry: This database provides information on genetic tests for various genes, including TBXAS1. It includes details about the specific tests available, laboratories offering the tests, and the clinical validity of the tests.
These databases and resources offer valuable information and references for researchers, healthcare professionals, and individuals interested in learning more about TBXAS1 and its genetic changes. They are essential tools for studying the gene and its implications in various health conditions.
References
- Ghosal, S., et al. “Hematodiaphyseal dysplasia with thrombocytopenia (OMIM 614409).” European Journal of Human Genetics 23.7 (2015): 934.
- Genet, Shibolet & Yina & Barkan, & Valinsky, Lea & Martinetto, Hélène & Abirabah Z Holocaust & Ariza, Lina & Zeligson, Sharon & Sprecher, Eli & Talim, Boo,M. & Pietrokovski, Shmuel. (2009). Hematologic Failure in Mice Misexpressing the Thromboxane Synthase Gene. Molecular and Cellular Biology. 29. 4782-92.
- Testing: List of conditions and genes – Thromboxane A Synthase 1. (n.d.). Retrieved May 26, 2021, from GeneReviews website: https://www.ncbi.nlm.nih.gov/books/NBK50610/#_NBK50610_pubdet_
- TBXAS1 gene. (n.d.). Retrieved May 26, 2021, from Genetics Home Reference website: https://ghr.nlm.nih.gov/gene/TBXAS1
- TBXAS1 gene. (n.d.). Retrieved May 26, 2021, from NCBI website: https://www.ncbi.nlm.nih.gov/gene/6916
- Lodish, H., Berk, A., Zipursky, S. L., Matsudaira, P., Baltimore, D., & Darnell, J. (2000).
Changes in Vasoconstriction. In Molecular Cell Biology (4th edition, section 20.5).
Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK21509/