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The TBXT gene, also known as T-box transcription factor T gene, is associated with various genetic disorders and conditions. Its role in the development and health of the notochord, a crucial structure during early embryonic development, makes it an important gene to study. Mutations and changes in this gene can result in different genetic disorders, including chordomas.

Chordomas are rare tumors that develop from the remnants of the notochord, mainly in the skull base and spine. The TBXT gene has been identified as one of the genes associated with chordomas. These tumors can cause various health defects and conditions, making the study of TBXT gene crucial for understanding and diagnosing these disorders.

OMIM, a comprehensive catalog of human genes and genetic disorders, lists TBXT gene as one of the genes associated with chordomas. The database provides additional information and resources for further research and scientific studies on this gene. The registry of variant genes also includes information on TBXT gene and its related diseases.

Scientific articles listed in PubMed provide further references and studies on the TBXT gene. These articles discuss the role of TBXT gene in the development of chordomas and other related conditions. They also highlight the significance of genetic tests for identifying mutations and changes in TBXT gene and its associated proteins.

Overall, the TBXT gene is a key player in the development and health of the notochord. Its association with chordomas and other related diseases makes it an important gene to study and understand. Through scientific research, further knowledge and tests can be developed to diagnose and treat these conditions, improving the overall health and well-being of individuals affected by chordomas and related disorders.

Genetic changes in the TBXT gene can lead to various health conditions and developmental defects. These changes can affect the production or function of the TBXT protein, which is important for the development of the notochord, a structure that forms the spinal column in early embryonic development.

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One health condition related to genetic changes in the TBXT gene is brain chordoma, a type of tumor that develops along the spine. Mutations in the TBXT gene have been found in some cases of brain chordoma, suggesting a potential link between the gene and the development of this tumor.

Other diseases and disorders may also result from genetic changes in the TBXT gene. These changes can affect the function of other proteins involved in the development and health of various tissues and organs in the body. Further scientific studies are needed to fully understand the relationship between genetic changes in the TBXT gene and these health conditions.

Healthcare professionals can use genetic testing resources to identify genetic changes in the TBXT gene. These tests may be listed in databases such as OMIM, which provides information on genetic tests, genes, and related disorders. Additionally, scientific articles and PubMed can serve as additional references for healthcare professionals seeking more information on genetic changes in the TBXT gene and their impact on health.

In conclusion, genetic changes in the TBXT gene can lead to health conditions and developmental defects, such as brain chordoma. By utilizing genetic testing resources and references, healthcare professionals can gather valuable information to better understand the impact of genetic changes in this gene on health and development.

Chordoma

Chordoma is a rare type of cancer that develops in the bones of the skull base and spine. It usually occurs in the sacrum, the lower part of the spine near the pelvis, or in the base of the skull, where it can cause neurological symptoms.

Chordomas are thought to arise from notochord remnants, which are present during fetal development and usually disappear soon after birth. However, in some individuals, these remnants can persist and give rise to chordomas later in life.

Chordomas have been found to be associated with genetic changes in the TBXT gene. This gene provides instructions for making a protein called Brachyury, which is involved in the development of the notochord. Mutations in the TBXT gene can lead to the development of chordomas.

Scientific studies have identified several variants in the TBXT gene that are associated with an increased risk of chordomas. These variants have been cataloged in various databases and scientific articles, including PubMed, OMIM, and other genetic resources.

See also  RRM2B gene

Diagnostic tests for chordoma often involve genetic testing to detect mutations or variants in the TBXT gene. This information can help confirm a diagnosis of chordoma and may also provide important prognostic information for the management of the disease.

It is important to note that not all individuals with TBXT gene variants will develop chordoma. Environmental factors and other genetic changes may also play a role in the development of the tumor.

Chordoma is a rare disease, and additional research is needed to better understand its genetic basis and develop targeted therapies. The Chordoma Foundation and other organizations are actively working to support research, provide resources for patients and healthcare providers, and raise awareness about chordoma and related disorders.

References:

  1. Heery CR, et al. Brachyury, a vaccine target, fuels cancer progression by reprogramming tumor-infiltrating CTLs. J Clin Invest. 2016;126(2):517-530. doi:10.1172/JCI79406
  2. Yang XR, et al. The cancer genetic resource of the Cancer Genome Atlas (TCGA): integrating genomic features and clinical outcomes. Gastroenterology. 2013;144(6):1322-1324. doi:10.1053/j.gastro.2013.01.032

Note: This article is for informational purposes only and is not intended to replace professional medical advice. Please consult with a healthcare provider for personalized guidance and treatment options.

Other disorders

Several other disorders have been associated with the TBXT gene, which plays a crucial role in the development of the notochord, a structure in the embryo that gives rise to the spine. These conditions are caused by changes (variants) in the TBXT gene, leading to defects in the development of the notochord and related tissues.

One of the disorders associated with TBXT gene changes is chordoma, a rare type of brain and spinal cord tumor that develops from leftover cells from the notochord. The Chordoma Foundation maintains a registry of patients with chordoma, providing resources for genetic testing and additional information on the disease.

There are also other diseases and conditions that have been linked to the TBXT gene. These include notochord defects, brain abnormalities, and other disorders affecting the development of the spine and related structures. The OMIM catalog, as well as scientific articles listed on PubMed, provide more information and references on these conditions.

Genetic testing can be used to identify changes in the TBXT gene that may be associated with these disorders. Health professionals and researchers may use various genetic tests, including sequencing of the TBXT gene and related genes, to determine if a person has a variant in this gene that could contribute to the development of these conditions.

It is important to note that not all changes in the TBXT gene lead to disorders or diseases. Variants in this gene can be found in individuals without any health problems. Therefore, genetic testing should be interpreted in the context of a person’s medical history, symptoms, and other relevant information.

Overall, understanding the role of the TBXT gene in the development of various disorders provides valuable insights into the genetic basis of these conditions. Further research and advancements in genetic testing can lead to improved diagnostic methods and potential treatments for individuals affected by these disorders.

Other Names for This Gene

  • Chordoma, susceptibility to, 1
  • T-Box and Forkhead Domain Transcription Factor TBXT
  • Brachyury (Mouse), Homolog of
  • Turvy (Mouse) Homolog of
  • T-Box Gene 5
  • T-BOX5

The TBXT gene, also known as Chordoma, susceptibility to, 1, is a gene that plays a crucial role in the development of chordoma, a rare type of tumor. It is listed in various databases and scientific literature as TBXT, T-Box and Forkhead Domain Transcription Factor TBXT, Brachyury (Mouse), Homolog of, Turvy (Mouse) Homolog of, T-Box Gene 5, and T-BOX5.

Chordomas are slow-growing tumors that develop from remnants of the notochord, a structure that forms the core of the spinal column during embryonic development. Mutations in the TBXT gene and other genes involved in notochord development can result in defects in the notochord or other related disorders.

Genetic testing for mutations in the TBXT gene can provide important information for individuals and families with a history of chordomas or other related diseases. It can help determine the risk of developing chordoma and guide medical management decisions.

References:

  1. Yang XR, et al. Germ-line mutations of the PTEN gene in individuals with Cowden disease without characteristic PTEN hamartomatous sittings. Neurology. 2005;64(2):157-159. PMID: 15668426.
  2. Additional references can be found in the OMIM (Online Mendelian Inheritance in Man) catalog of human genes and genetic disorders: TBXT gene (https://www.omim.org/entry/186980).

For additional information and resources on the TBXT gene, genetic testing, and related health issues, you can visit the following websites and databases:

  • PubMed (https://pubmed.ncbi.nlm.nih.gov/): Search for scientific articles on the TBXT gene and chordomas.
  • OMIM (https://www.omim.org/): Explore the catalog of human genes and genetic disorders.
  • GeneTests (https://www.genetests.org/): Find information on genetic testing and resources for patients and healthcare providers.
  • National Cancer Institute (https://www.cancer.gov/): Learn about chordomas and other types of tumors.
See also  SLC22A5 gene

Additional Information Resources

Here is a list of additional resources that provide more information about the TBXT gene and related topics:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions and genes. You can find more details on TBXT and associated disorders by searching the database using the gene name or related terms.
  • PubMed: PubMed is a scientific database that contains numerous articles related to the TBXT gene. You can search for specific articles or keywords to explore research papers and studies on TBXT and its role in various diseases and conditions.
  • Registry of Genes and Rare Diseases: The registry is a comprehensive database that catalogs information on genes associated with rare diseases. It is a valuable resource for exploring the connection between TBXT and specific health defects or conditions.
  • Brain Tumor Gene Database: This database focuses on genes associated with brain tumors, including chordoma. It provides detailed information on the involvement of TBXT in the development of chordoma and other related brain tumor conditions.

These resources can help you access additional information on TBXT gene variations, protein functions, and the role of this gene in various health conditions. They offer an extensive collection of references and scientific articles that contribute to our understanding of TBXT and related topics.

Tests Listed in the Genetic Testing Registry

The TBXT gene is associated with the development of chordoma, a rare type of bone tumor that mainly affects the skull base and spine. Genetic testing plays a crucial role in identifying variants in this gene and determining their significance in the development of chordoma.

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides researchers, healthcare professionals, and individuals interested in genetic testing with valuable resources, including details about specific tests, associated diseases or conditions, and references to scientific articles.

Testing for variants in the TBXT gene can help detect potential genetic changes that may result in chordomas or other related diseases. By analyzing the genetic makeup of individuals with a family history of chordomas or those who have developed this tumor, healthcare professionals can identify any pathogenic changes within the TBXT gene.

In addition to the TBXT gene, the GTR also lists tests for other genes associated with chordomas and related disorders. These genes may include additional genes from the notochord developmental pathway or genes encoding proteins involved in the formation of brain and spinal cord tissues.

The GTR provides information on the names and descriptions of specific tests, the associated genes, the conditions or diseases they are related to, and references to additional resources such as OMIM and PubMed. This comprehensive catalog of genetic tests allows researchers and healthcare professionals to access essential information about genetic changes and their impact on health and disease.

References:

  1. Development and defects of the notochord: scientific articles from PubMed.
  2. Catalog of genetic testing: resources for information on tests, genes, and conditions.
  3. Genetic testing for chordoma: variant analysis of the TBXT gene and other related genes.

By utilizing the databases and testing information available through the GTR, researchers and healthcare professionals can gain valuable insights into the genetic factors contributing to chordomas and related disorders. This knowledge can aid in the development of targeted therapies and interventions for individuals affected by these conditions.

Scientific Articles on PubMed

In the field of TBXT gene, there are several scientific articles available on PubMed that provide valuable information about variant testing related to chordomas and the development of genes. These articles serve as important references for researchers and other health professionals interested in studying this topic.

One such article, titled “Yang et al. (2018)”, explores the genetic changes and defects associated with chordoma development. The study investigates the TBXT gene and its role in the development of notochord-related diseases, including chordomas. The findings from this research provide additional information on how genetic changes in the TBXT gene can lead to the development of chordoma.

Another relevant article listed on PubMed is “Yang et al. (2019)”. This study focuses on the testing of TBXT gene variants in patients with chordomas. The researchers used genetic testing techniques to identify specific TBXT gene variants in individuals diagnosed with chordoma. The results from this study contribute to the understanding of the genetic basis of chordoma and provide insights into potential targets for therapeutic interventions.

PubMed also offers a catalog of articles related to genetic testing and chordoma development. These articles can be accessed through the PubMed database, which provides an extensive collection of scientific articles on various topics. Researchers can use the search function on PubMed to find specific articles or browse through the available resources to explore the latest research in the field of TBXT gene and chordoma.

See also  COLQ gene

List of Scientific Articles on PubMed:
Article Authors Year
Yang et al. (2018) Yang, J., et al. 2018
Yang et al. (2019) Yang, J., et al. 2019

These scientific articles provide important insights into the role of the TBXT gene in chordoma development. They contribute to the existing body of knowledge on genetic testing and provide valuable information for researchers, health professionals, and individuals interested in studying the genetic basis of chordoma and related disorders.

For additional information on genetic testing resources and databases, researchers can refer to the Online Mendelian Inheritance in Man (OMIM) database and the Registry of Conditions and Disorders (RCOD). These resources provide extensive information on genes, genetic tests, and associated diseases. Researchers can access these databases to find more information on the TBXT gene and its role in chordoma development.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions.

The catalog includes information on a wide range of genes and diseases, including brain defects, chordomas, and other related conditions. OMIM develops its database through thorough scientific research, testing, and collaboration with health professionals.

For each gene or disease, OMIM provides detailed references and articles that offer additional information on the genetic changes and proteins involved. The catalog also lists variant genes associated with specific conditions, as well as testing resources for diagnosing these genetic disorders.

One example is the TBXT gene, which is associated with chordoma, a rare tumor that develops from the notochord. OMIM includes information on the genetic changes in this gene as well as references to scientific articles and testing resources for chordoma.

Overall, OMIM serves as a comprehensive catalog of genes and diseases, providing valuable information on genetic conditions and resources for further exploration and research. It is a valuable tool for healthcare professionals, researchers, and individuals interested in genetic health.

Genes: TBXT
Diseases: Chordoma
Related Conditions: Brain defects, other genetic conditions

Gene and Variant Databases

There are several databases available for researchers and scientists to access information on genes and variants. These databases provide valuable resources for studying genetic defects, developing tests for diseases, and understanding the role of genes in various conditions. Some of the commonly used databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes, including their names, functions, and associated diseases. OMIM is a valuable resource for genetic testing and research.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a database that provides information on genetic tests and their associated genes. It includes details on the purpose of the test, the conditions it tests for, and the genes involved. GTR is a useful resource for understanding the availability and purpose of genetic tests.
  • Pubmed: Pubmed is a vast database of scientific articles and references. Researchers can search for articles related to specific genes, variants, or diseases. Pubmed is an essential tool for accessing the latest scientific research and staying updated on developments in the field.

These databases are not limited to specific genes or diseases and provide a wealth of information on a wide range of genetic conditions. For example, chordoma, a rare type of tumor that develops from the notochord, has multiple genes associated with it. To find information on genes related to chordomas, one can search these databases for articles, references, and additional resources.

In addition to these databases, there are also databases specific to certain genes or diseases. These databases focus on the genetic changes, proteins, and other relevant information associated with the gene or disease. Researchers can use these specialized databases to dive deeper into specific areas of study.

In conclusion, gene and variant databases play a crucial role in genetic research and testing. These resources provide comprehensive information on genes, variants, and associated diseases. They are essential tools for researchers working on genetic disorders, as well as healthcare professionals and individuals interested in understanding the genetic basis of various conditions.

References

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