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The TRPM4 gene encodes for the transient receptor potential cation channel, subfamily M, member 4. This gene is listed in various genetic databases and registries as a channel gene associated with cardiovascular conditions and diseases. Additional information on the TRPM4 gene can be found in the OMIM database, which provides comprehensive information on genetic disorders and related genes.

Studies have shown that mutations in the TRPM4 gene can lead to impaired cardiovascular function and are associated with progressive conditions such as familial Brugada syndrome. These changes in the TRPM4 channel can generate a range of physiological and cellular changes in heart cells, leading to impaired health and function.

Scientific articles and references on the TRPM4 gene can be found in various databases and resources, including PubMed. These articles provide further insight into the role of the TRPM4 gene in cardiovascular health and disease. Testing for mutations in the TRPM4 gene may be available through genetic testing companies and laboratories, and information on these tests can be found in the testing catalog of genetic health providers.

Overall, the TRPM4 gene is a key receptor channel gene associated with cardiovascular conditions and diseases. Genetic changes in this gene can lead to impaired heart function and are linked to progressive syndromes such as Brugada syndrome. Further research and understanding of the TRPM4 gene may provide valuable insights for the development of new diagnostic and therapeutic approaches for cardiovascular diseases.

Genetic changes in the TRPM4 gene can lead to various health conditions related to impaired channel function. TRPM4 channels play a crucial role in the cardiovascular system, specifically in the regulation of heart rhythm and blood pressure.

One of the health conditions related to genetic changes in the TRPM4 gene is Brugada syndrome. This syndrome is characterized by abnormal heart rhythms and an increased risk of sudden cardiac arrest. Genetic testing can help identify the specific genetic changes in the TRPM4 gene associated with Brugada syndrome.

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In addition to Brugada syndrome, genetic changes in the TRPM4 gene have also been linked to other cardiovascular conditions such as progressive familial heart block and variant angina. These conditions are characterized by abnormalities in the electrical conduction system of the heart, leading to impaired heart rhythm and potential cardiac complications.

To generate a comprehensive catalog of health conditions related to genetic changes in the TRPM4 gene, scientific articles, databases, and resources can be consulted. PubMed, OMIM, and other genetic databases provide information on the latest research findings, genetic changes, and associated health conditions.

When referencing scientific articles and databases, the following citation format can be used:

  1. Author’s Last Name, First Initial. (Year). Article Title. Journal Name, Volume(Issue), Page Numbers. PMID: PubMed ID

Additionally, the TRPM4 gene is also known by other names such as TRPM4b and LTrp4. These alternate names can be used when searching for additional information or resources related to the gene and its associated health conditions.

In conclusion, genetic changes in the TRPM4 gene can result in various health conditions, particularly in the cardiovascular system. Testing for genetic changes in this gene can help identify individuals at risk and guide appropriate medical interventions.

Progressive familial heart block

Progressive familial heart block is a genetic condition characterized by impaired electrical conduction in the heart, leading to a progressive block of electrical signals. This condition is often inherited and can result in various degrees of heart block.

Testing for progressive familial heart block can be done through genetic tests, which analyze genes associated with this condition. Resources such as OMIM, a genetic database, provide information on the TRPM4 gene, which is one of the genes associated with this condition.

See also  CHOPS syndrome

Other related cardiovascular diseases, such as Brugada syndrome, may also be tested for using genetic tests. These tests can help in diagnosing and managing the condition.

Additional information on progressive familial heart block and related genetic conditions can be found in scientific articles and references. PubMed, a database for scientific articles, can generate a list of articles and references based on the search criteria, including keywords like progressive familial heart block, TRPM4 gene, and cardiovascular diseases.

The TRPM4 gene encodes for a receptor on ion channels, specific for calcium and sodium. Impairment of this gene can lead to abnormal electrical conduction in the heart, resulting in heart block.

Here are some resources and databases that provide information on genetic conditions and testing:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive genetic database that provides information on genetic conditions, including progressive familial heart block.
  • PubMed: PubMed is a database that provides access to a vast collection of scientific articles and references, including those related to progressive familial heart block and genetic testing.
  • Genetic testing laboratories: There are various laboratories and clinics that offer genetic testing for progressive familial heart block and related conditions. These laboratories can provide further information and resources on testing options.
  • National registry: Some countries may have national registries or organizations dedicated to tracking and providing information on genetic conditions, including progressive familial heart block. These registries can provide valuable resources and support for individuals and families affected by the condition.

It is important to consult healthcare professionals and genetic counselors for appropriate testing and management of progressive familial heart block and related conditions. They can provide personalized information and guidance based on individual health history and genetic profiles.

Brugada syndrome

Brugada syndrome is a genetic heart disease that affects the channels responsible for generating the electrical activity in the heart’s cells. It is named after the Brugada brothers, who first described the syndrome in 1992.

The syndrome is characterized by changes in the electrocardiogram (ECG) that can lead to life-threatening arrhythmias, such as ventricular fibrillation. These changes are often induced by fever, sodium channel blockers, or other conditions that affect the heart’s electrical system.

Brugada syndrome is inherited in an autosomal dominant manner, meaning that individuals with a variant in the TRPM4 gene have a 50% chance of passing it on to their children. The TRPM4 gene encodes for a receptor that is involved in the regulation of calcium and sodium channels in the heart.

Diagnosis of Brugada syndrome is usually made through ECG testing, which can show the characteristic changes associated with the condition. However, additional testing, such as genetic testing, may be needed to confirm the diagnosis and identify the specific genetic variant.

There are several resources available for more information on Brugada syndrome, including scientific articles, registries, and databases such as OMIM, PubMed, and other genetic databases. These resources provide a wealth of information on the genetic, scientific, and clinical aspects of the syndrome.

Resources for Brugada syndrome
Resource Description
OMIM A comprehensive catalog of human genes and genetic disorders
PubMed A database of scientific articles and references
Genetic databases Databases that provide information on genetic variants and related diseases
Registries Registry programs that collect data on individuals with Brugada syndrome for research purposes

Understanding the genetic basis of Brugada syndrome is crucial for the development of targeted therapies and personalized treatment options. Ongoing research aims to uncover the underlying mechanisms of the syndrome and identify potential therapeutic targets.

It is important for individuals with Brugada syndrome to receive regular cardiovascular monitoring and follow the recommendations of their healthcare providers. Medications may be prescribed to manage symptoms, and in some cases, implantation of an implantable cardioverter-defibrillator (ICD) may be necessary to prevent sudden cardiac death.

Other Names for This Gene

The TRPM4 gene is also known by other scientific names, related to the function and characteristics of this gene. Some of these names include:

  • PubMed ID: 18509096
  • Familial Progressive Cardiac Conduction Defect Type 1 (FPCCD1)
  • Trp Metabolic Turmoil 4
  • Transient Receptor Potential Cation Channel Subfamily M Member 4
  • TRP-PLIK
  • TRPP2L
  • TRPM4H

Citations and references to additional articles and databases on TRPM4 gene can generate more information about its role and function in various conditions related to cardiovascular health and diseases, such as Brugada Syndrome. For instance, information on changes or variants in this gene can provide insights into impaired channel function and block in heart cells. Testing and genetic screening using TRPM4 gene can be conducted to identify any potential changes or mutations that might be associated with certain heart conditions.

See also  Hyperphosphatemic familial tumoral calcinosis
Additional Resources for TRPM4 Gene:
  • OMIM (Online Mendelian Inheritance in Man)
  • NCBI Gene
  • The Human Gene Database (HGNC)
  • PubMed
  • TRPM4 – The Human Protein Atlas

Additional Information Resources

The TRPM4 gene has been extensively studied and there are several resources available for further information.

  • Catalog: A catalog of all known genetic changes in the TRPM4 gene can be found in the Online Mendelian Inheritance in Man (OMIM) database.
  • Articles: Numerous scientific articles have been published on the TRPM4 gene and its role in various diseases and conditions. PubMed is a valuable resource for accessing these articles.
  • Channels and Receptor databases: There are other databases that generate variant names and provide information on impaired TRPM4 channels. These databases include the Cardiovascular Gene Testing Registry (CVGTR) and the Brugada Syndrome Genetic Variant database.
  • Genetic testing: For individuals with familial heart conditions or other progressive cardiovascular diseases, genetic testing for mutations in the TRPM4 gene may be recommended. Additional information on genetic testing can be found from organizations such as the American Heart Association.
  • References: There are numerous references available on the TRPM4 gene and its implications in various diseases and conditions. These references can be found in scientific journals, textbooks, and online databases.

It is important to note that further research on the TRPM4 gene is still ongoing, and new information and resources are constantly being added. Therefore, it is recommended to regularly check for updates in the field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry, a resource provided by the National Institutes of Health, lists various tests related to the TRPM4 gene. These tests are designed to detect changes in the TRPM4 gene and identify any associated conditions or syndromes.

Genetic testing plays a crucial role in understanding and diagnosing genetic disorders. By studying the TRPM4 gene, scientists can gain insights into the role it plays in various health conditions, particularly those related to impaired cardiovascular function.

The TRPM4 gene codes for the Transient Receptor Potential Melastatin 4 (TRPM4) protein. This protein is involved in the functioning of ion channels, which are essential for the proper electrical signaling in cells, especially in the heart.

Testing for changes in the TRPM4 gene can help identify variants that may cause channelopathies, specifically those related to cardiac conditions. For example, variants in the TRPM4 gene have been associated with Brugada syndrome, a potentially life-threatening cardiovascular disease.

The Genetic Testing Registry provides a catalog of tests for the TRPM4 gene, including those for specific variants and receptor subtypes. These tests utilize advanced molecular techniques to analyze the DNA and identify potential genetic changes.

Additionally, the registry offers resources and references for further scientific investigation. Researchers can find related articles, scientific articles, and other sources of information on the TRPM4 gene, its variants, and associated conditions.

The tests listed in the Genetic Testing Registry can be used by healthcare professionals to diagnose and monitor patients with suspected TRPM4 gene-related conditions. These tests aid in determining appropriate treatment plans and guiding patient management strategies.

The Genetic Testing Registry serves as a comprehensive and reliable source of information for genetic testing of TRPM4 gene-related conditions. Its extensive database and curated list of tests and references contribute to the advancement of scientific knowledge in the field of genetics and cardiovascular health.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides information from various health and scientific articles. It is a valuable resource for researchers and healthcare professionals who are looking for relevant studies related to a specific topic.

One area of interest in cardiovascular health is the TRPM4 gene. This gene codes for a channel protein that plays a role in the regulation of ion channels in cells. Genetic changes in this gene have been associated with the development of several cardiovascular diseases and conditions, including progressive familial heart block syndrome.

PubMed provides access to a vast catalog of articles that have investigated the role of TRPM4 gene variants in cardiovascular diseases. These scientific articles often provide detailed information on the genetic changes associated with impaired channel function and their effects on the heart.

See also  FGD1 gene

Researchers can use PubMed to search for articles related to TRPM4 gene variants and cardiovascular diseases. The search results can be further filtered to include additional information, such as related genes or genetic testing methods. The articles listed in the search results often include references to other relevant studies, allowing researchers to explore further in the field.

One useful feature of PubMed is the ability to generate citations for the articles. This makes it easier for researchers to reference the articles in their own work and ensures proper credit is given to the authors.

Overall, PubMed is a valuable resource for researchers and healthcare professionals interested in the TRPM4 gene and its role in cardiovascular health. The database provides access to a wide range of scientific articles that can contribute to the understanding and progress in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genetic changes, diseases, and conditions related to specific genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various disorders.

The catalog lists genes that have been associated with a wide range of diseases and conditions, including cardiovascular disorders, progressive syndromes, and impaired receptor function.

For each gene, the catalog provides the gene name, alternative names, and other relevant information. It also includes a citation to scientific articles and references from PubMed, a widely used database of scientific literature.

The catalog also provides information on specific diseases and conditions associated with the genes listed. It includes a detailed description of each disorder, as well as information on symptoms, testing methods, and treatment options.

Through the catalog, users can generate a list of related genes and diseases, making it easier to navigate through the vast amount of information available in the OMIM database.

Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable tool for researchers and healthcare professionals in their quest to understand the genetic basis of various diseases and conditions. It provides a central hub of information, allowing for easier access to relevant resources and facilitating progress in the field of genetics.

Gene and Variant Databases

Gene and variant databases are powerful resources that generate a catalog of genetic variants associated with specific genes. These databases provide valuable information on various genetic conditions and syndromes, including those related to the TRPM4 gene.

One such database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive collection of information on human genes and genetic disorders. OMIM provides detailed information on the TRPM4 gene, including its function, associated diseases, and the specific variants that have been identified.

Another important database is the PubMed database, which is a vast collection of scientific articles and references. Researchers and medical professionals can search PubMed to find additional information on the TRPM4 gene, its role in various diseases, and the latest research findings.

In addition to these databases, there are other resources available for gene and variant testing. The National Institutes of Health (NIH) provides a registry of genetic tests and laboratories that offer testing for specific genes, including TRPM4. This registry can help individuals and healthcare providers find testing options for TRPM4-related conditions.

Furthermore, there are databases specifically focused on cardiovascular diseases and conditions. One example is the Brugada Syndrome Genetic Variation Database, which catalogues genetic changes associated with Brugada syndrome, a heart disorder that can be caused by mutations in the TRPM4 gene. This database provides information on the specific variants, their frequency, and their impact on the function of the TRPM4 channel.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases and providing resources for research and clinical testing. These databases are valuable tools for scientists, healthcare professionals, and individuals seeking information about specific genes and genetic conditions.

References

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