The ARID1A gene, also known as the AT-rich interaction domain 1A gene, is a critical regulator of various biological processes. It belongs to the ARID (AT-rich interaction domain) family of genes that are involved in the development and regulation of different cellular functions. The ARID1A gene plays a vital role in chromatin remodeling, gene expression, and DNA repair. Mutations in this gene have been linked to the development of various diseases, including cancer.

When the ARID1A gene is functioning correctly, it helps to regulate the activity of other genes and ensure the proper development and function of cells. However, mutations in this gene can lead to changes in its function and disrupt normal cellular processes. These mutations have been found in various types of cancers, including bladder cancer and cholangiocarcinoma.

Research articles and scientific databases provide valuable information on the ARID1A gene and its role in different diseases. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are excellent resources to find articles, studies, and references related to this gene. Additionally, genetic testing can be used to identify mutations in the ARID1A gene and provide important information for the diagnosis and management of related conditions.

The ARID1A gene is also associated with a genetic syndrome called Coffin-Siris syndrome. This syndrome is characterized by intellectual disability, developmental delays, and other physical and developmental abnormalities. The ARID1A gene is one of several genes in which mutations have been found to cause Coffin-Siris syndrome.

In conclusion, the ARID1A gene is a crucial gene involved in the regulation of various cellular processes. Mutations in this gene have been associated with several diseases, including different types of cancers and Coffin-Siris syndrome. Scientific articles, databases, and genetic testing are valuable resources for gathering information on this gene and its related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ARID1A gene have been associated with various health conditions and syndromes. These changes can lead to the development of certain diseases and conditions. Here are some health conditions related to genetic changes in the ARID1A gene:

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• Coffin-Siris Syndrome: ARID1A gene mutations have been found in individuals with Coffin-Siris Syndrome. This rare genetic disorder is characterized by developmental delays, intellectual disability, and physical abnormalities.
• Cholangiocarcinoma: The ARID1A gene is frequently mutated in cholangiocarcinoma, a type of cancer that affects the bile ducts. Testing for ARID1A gene mutations can help in the diagnosis and treatment of cholangiocarcinoma.
• Bladder Cancer: Certain genetic changes in the ARID1A gene have been implicated in the development of bladder cancer.

More information about these conditions, as well as other genes and genetic changes associated with them, can be found in various databases and resources. Some of these include:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic disorders, including those related to ARID1A gene changes.
• PubMed: PubMed is a scientific database that provides access to articles and research papers on various health conditions related to genetic changes.
• Genetic Testing: Genetic testing can be performed to identify specific genetic changes in the ARID1A gene and help diagnose related health conditions.
• GeneDx: GeneDx is a genetic testing and diagnostics company that offers testing for ARID1A gene mutations, as well as other genes associated with health conditions.
• Human Gene Mutation Database (HGMD): HGMD is a comprehensive database that catalogues genetic mutations associated with human diseases and provides additional information on these changes.

When researching health conditions related to genetic changes in the ARID1A gene, it is important to consult reputable sources and scientific articles to ensure accurate and up-to-date information.

Coffin-Siris Syndrome

The Coffin-Siris syndrome is a rare genetic disorder that affects multiple organ systems. It is characterized by developmental delays, intellectual disability, distinctive facial features, and abnormalities of the fingers and toes.

One of the genes associated with Coffin-Siris syndrome is the ARID1A gene. This gene is involved in regulating the activity of other genes and plays a role in normal development. Changes in the ARID1A gene can lead to the characteristic features of Coffin-Siris syndrome.

In addition to Coffin-Siris syndrome, changes in the ARID1A gene have also been found in various cancers, including bladder cancer and cholangiocarcinoma. This suggests that the ARID1A gene may play a role in the development of these cancers.

Testing for changes in the ARID1A gene can be done through genetic testing. These tests can help confirm a diagnosis of Coffin-Siris syndrome or identify individuals who may be at increased risk for certain cancers.

There are resources available for individuals and families affected by Coffin-Siris syndrome. The Coffin-Siris Syndrome Foundation provides information and support for those affected by the syndrome. Additionally, scientific articles and information on Coffin-Siris syndrome can be found on PubMed and OMIM databases.

References:

• Coffin-Siris Syndrome Foundation. Available at: https://www.coffinsiris.org
• ARID1A gene. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/gene/ARID1A
• ARID1A gene and cholangiocarcinoma. Cancer Genetics Web. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613614/

Bladder cancer

Bladder cancer is a type of cancer that affects the bladder. It is a complex disease that can be caused by various genetic and environmental factors. One gene that has been found to play a role in bladder cancer is the ARID1A gene.

The ARID1A gene is involved in the regulation of gene expression and plays a critical role in the development and growth of cells. Changes or mutations in this gene can lead to abnormal cell growth and the development of bladder cancer.

Testing for ARID1A gene mutations can be done to identify individuals who may have an increased risk of developing bladder cancer. These tests can be done using various genetic testing methods, such as sequencing or gene panel testing. The results of these tests can help guide treatment decisions and inform patients about their risk of developing bladder cancer.

In addition to bladder cancer, the ARID1A gene has also been found to be involved in the development of other cancers, such as cholangiocarcinoma. Therefore, testing for ARID1A gene mutations may also be relevant in the diagnosis and treatment of these conditions.

Information about ARID1A gene mutations and their association with bladder cancer can be found in various scientific databases and resources. These include the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic databases. These resources provide references to articles and scientific studies that have investigated the role of the ARID1A gene in bladder cancer and related conditions.

References:

• Coffin-Siris syndrome – Genetics Home Reference – NIH. https://medlineplus.gov/genetics/condition/coffin-siris-syndrome/
• ARID1A gene – Genetics Home Reference – NIH. https://medlineplus.gov/genetics/gene/arid1a/

These references provide information on the ARID1A gene, its function, and its association with bladder cancer and other related conditions. They can be used as a starting point for further research and exploration of the topic.

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that affects the bile ducts. It is a complex and rare disease, with several known genetic changes associated with its development. One of these genetic changes is related to the ARID1A gene, which plays a role in regulating gene expression and maintaining normal cell function.

Information about cholangiocarcinoma, including its genetic causes, testing, and other related syndromes, can be found in various scientific resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genetic conditions and genes associated with diseases, including cholangiocarcinoma. The registry of bladder cancer-related syndrome, Coffin-Siris syndrome, and other databases also offer information on the genetic changes associated with cholangiocarcinoma.

Testing for genetic changes in the ARID1A gene and other genes that regulate cell health is available for individuals with suspected or confirmed cholangiocarcinoma. These tests can help provide additional information for diagnosis, prognosis, and treatment planning.

When researching cholangiocarcinoma and related conditions, it is important to consult scientific articles and references. PubMed is a valuable resource for finding articles on the topic, as it provides access to a vast collection of scientific articles and research papers on cancer and genetic diseases.

Overall, understanding the genetic changes associated with cholangiocarcinoma can contribute to the development of targeted therapies and improved management strategies for this complex and rare cancer.

Cancers

The ARID1A gene is associated with various types of cancers, including:

• Ovarian cancer
• Endometrial cancer
• Gastric cancer
• Bladder cancer
• Cholangiocarcinoma

The ARID1A gene is commonly mutated in these cancers, and its changes are found in both sporadic and hereditary cases.

The Coffin-Siris syndrome is a genetic condition related to mutations in the ARID1A gene. This syndrome is associated with developmental delays, intellectual disabilities, and other health conditions.

Testing for mutations in the ARID1A gene can be done using various genetic tests, such as sequencing or deletion/duplication analysis. The results of these tests can provide valuable information for the diagnosis and management of individuals with suspected ARID1A-related conditions or cancers.

For additional scientific information on the ARID1A gene and its association with cancers and other health conditions, several resources can be accessed. These include databases such as PubMed, OMIM, and scientific articles listed in the references section of this article.

The ARID1A gene is part of a complex regulatory network that helps regulate other genes involved in cancer development. Changes in this gene can disrupt the normal functioning of these genes, leading to the development and progression of various cancers.

The Cancer Gene Census, a catalog of genetic mutations associated with cancer, provides a comprehensive list of genes related to cancer development. The ARID1A gene is one of the genes listed in this catalog.

When considering testing for ARID1A mutations, it is important to consult a healthcare professional or a genetics specialist who can provide detailed information and guidance on the testing process and its implications.

Further information and resources can also be obtained from patient support groups and registries dedicated to specific conditions associated with ARID1A mutations, such as the Coffin-Siris Syndrome Foundation and the Bladder Cancer Advocacy Network.

Other Names for This Gene

The ARID1A gene, also known as AT-rich interactive domain-containing protein 1A, is a genetic component that plays a crucial role in various health conditions and development processes. This gene provides instructions for making a protein that helps regulate the activity of other genes.

In scientific literature, the ARID1A gene may be referred to by different names, including:

• AT-rich interactive domain 1A
• BAF250a
• BAF250
• BRG1-associated factor 250a

These alternative names reflect different aspects of the gene’s function and its involvement in various diseases and syndromes. Understanding these different names can be helpful when searching for information related to the ARID1A gene.

Several databases and resources catalog information about the ARID1A gene, its variants, and its association with different conditions. Some of these resources include the Online Mendelian Inheritance in Man (OMIM), PubMed, and the Cancer Genetic Markers of Susceptibility (CGEMS) database. These resources provide additional references and citation information for further reading and research on the ARID1A gene.

Testing for variants in the ARID1A gene can be important in diagnosing certain cancers, such as bladder cancer and cholangiocarcinoma. Genetic testing can help identify certain changes or mutations in this gene that may be associated with these diseases. The ARID1A gene is also linked to Coffin-Siris syndrome, a rare genetic disorder characterized by developmental delays and intellectual disability.

In conclusion, the ARID1A gene, also known by various other names, plays a significant role in regulating the activity of other genes and is associated with several diseases and syndromes. Further research and genetic testing can provide valuable information about the implications of variations in this gene on human health and development.

Additional Information Resources

This section provides additional resources and references for further information on the ARID1A gene and related topics.

• Scientific Articles: When researching the ARID1A gene, you may find it helpful to review scientific articles that discuss its role in the development and regulation of certain cancers and diseases. PubMed is a resource where you can find a catalog of such articles.
• Genetic Testing and Variant Databases: If you are interested in genetic testing for the ARID1A gene or other genes related to cholangiocarcinoma or other cancers, various databases and testing companies offer information and services. Examples include OMIM and the ARID1A gene testing registry.
• Related Diseases and Conditions: In addition to the specific link between ARID1A and certain cancers, this gene has also been associated with Coffin-Siris syndrome, a rare genetic disorder. You can find more information on this syndrome and related health conditions through various disease registries and genetic counseling resources.
• Regulation of Genes: Understanding how genes like ARID1A regulate other genes is crucial in comprehending their role in diseases. A review of gene regulatory networks and associated research articles can provide further insight into this field of study.
• Additional Resources: There are numerous other resources available that provide information on the ARID1A gene and related topics. These include websites, books, and databases dedicated to cancer research, genetics, and related fields. Some useful resources to consider include online scientific journals, university research websites, and reputable health organizations.

It is important to consult a healthcare professional or genetic counselor for personalized information and guidance regarding ARID1A gene testing, variant interpretation, and any related health concerns.

Tests Listed in the Genetic Testing Registry

The ARID1A gene is associated with various genetic tests listed in the Genetic Testing Registry, such as:

• OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on genetic disorders and various diseases, including Coffin-Siris syndrome and other genetic conditions.
• Catalog of Genes and Diseases: This database contains information about genes, diseases, and their associated genetic tests.
• PubMed: This scientific publication database contains articles on ARID1A gene and its role in cancer development, including cholangiocarcinoma and other related cancers.
• Additional resources: The Genetic Testing Registry also provides additional resources and references for testing related to ARID1A gene.

Genetic testing for ARID1A gene changes is important for the diagnosis and management of various conditions. This gene plays a critical role in regulating gene expression and is associated with several cancers and syndromes.

The testing listed in the Genetic Testing Registry includes testing for ARID1A gene changes in various cancers such as bladder and cholangiocarcinoma. These tests provide valuable information for healthcare professionals and individuals who may be at risk for these conditions.

For more information and detailed articles on ARID1A gene testing and related conditions, please refer to the sources mentioned above and the citation provided in this article.

Scientific Articles on PubMed

PubMed provides a vast collection of scientific articles related to the ARID1A gene. These articles cover a wide range of topics including testing, diseases, conditions, and changes in this gene.

Here are some resources available on PubMed for testing and research related to the ARID1A gene:

• OMIM – This database provides information on genetic conditions, including the Coffin-Siris syndrome, which is related to the ARID1A gene.
• Cancer Gene Census – This catalog lists genes that are known to be involved in various cancers, including ARID1A.
• PubMed Central – PubMed Central contains a collection of articles specifically focused on ARID1A and its role in different diseases and conditions.
• Cholangiocarcinoma Gene Database – This database provides information on genes and variants related to cholangiocarcinoma, including ARID1A.

When researching the ARID1A gene, it is important to consider its role in diseases and syndromes such as Coffin-Siris syndrome, bladder cancer, and cholangiocarcinoma.

Additional resources such as scientific articles, databases, and health registries can be found to further understand the ARID1A gene and its role in regulating complex processes such as development and cancer.

Catalog of Genes and Diseases from OMIM

OMIM provides a comprehensive catalog of genes and diseases, offering a wealth of information for scientific research and health-related purposes. The OMIM database is a valuable resource for understanding the genetic basis of various diseases and conditions.

When researching a specific gene or disease, OMIM can provide a wide range of details including the gene’s function, associated diseases and variants, related articles and publications, and much more.

The ARID1A gene is one of the genes listed in the OMIM catalog. It plays a crucial role in the regulation of gene expression and the development of various diseases. Changes in the ARID1A gene have been associated with Coffin-Siris syndrome, bladder cancer, and cholangiocarcinoma, among other conditions.

For each gene, OMIM provides a detailed description of its function and the diseases it is related to. The gene’s entry in the catalog includes information about the protein it encodes, the cellular processes it is involved in, and the associated genetic variants.

In addition to the gene-specific information, OMIM also offers various resources and databases for further research. The database includes a citation index, which lists the scientific articles that reference a particular gene or disease. This can be helpful for finding additional literature on a specific topic.

OMIM is also a valuable resource for genetic testing. It provides information on available genetic tests for different diseases and conditions, including Coffin-Siris syndrome. The gene-specific testing information includes details about the variant being tested, the testing methods used, and any additional resources or registries related to the condition.

Using OMIM, researchers and healthcare professionals can access a wealth of information on genes, diseases, and conditions, making it an indispensable tool in the field of genetics.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals seeking information on specific genes and their associated variants. These databases provide a comprehensive collection of scientific articles, references, and additional resources related to the gene of interest.

For the ARID1A gene, there are several databases available that provide information on its role in various diseases and conditions such as cholangiocarcinoma and Coffin-Siris syndrome. These databases also list other genes that are related to ARID1A and provide references for further reading.

One of the most widely used gene databases is PubMed, which indexes scientific articles from a variety of journals. Researchers can search for specific genes and variants to find relevant articles and information on their function and role in disease development and progression. PubMed also provides links to other databases and resources for genetic testing.

Another important database is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genes and genetic conditions. OMIM includes information on genetic changes associated with ARID1A and how these changes can regulate gene expression and function.

In addition to these databases, there are also gene-specific databases that focus on ARID1A and its variants. These databases provide detailed information on the gene, including its structure, function, and role in specific diseases. They may also provide information on available tests and testing laboratories for ARID1A variants.

Researchers and healthcare professionals can utilize these databases to stay updated on the latest research and developments in the field of ARID1A gene and its variants. This information can be helpful in diagnosing and managing diseases related to ARID1A, as well as in the development of targeted therapies and treatments.

Here is a list of some gene and variant databases that provide information on the ARID1A gene:

• PubMed: provides scientific articles and references
• OMIM: detailed information on genes and genetic conditions
• GeneTests: information on available tests for ARID1A variants
• Cancer Gene Census: catalog of genes associated with various cancers

It is important to note that these databases are constantly evolving, and new information and research may become available over time. Therefore, it is recommended to regularly check these databases for updates and new resources.

For more information on the ARID1A gene and its variants, please refer to the citations and references provided in this article.

References

• Genetic Testing Registry (GTR): This database provides information on genetic tests for ARID1A gene and related health conditions. It lists the genetic variant and testing laboratories that offer tests for this gene.
• PubMed: PubMed is a scientific database that contains articles related to ARID1A and its role in cholangiocarcinoma and other cancers. It provides names of the authors, article titles, and publication dates.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on genes and genetic conditions. It includes information on ARID1A and its association with Coffin-Siris syndrome and other related diseases.
• Coffin-Siris Syndrome Foundation: The Coffin-Siris Syndrome Foundation is a registry and resource for individuals and families affected by Coffin-Siris syndrome. It provides information on the genetic changes in ARID1A and offers support and resources for affected individuals.
• Scientific Articles: There are numerous scientific articles that discuss the role of ARID1A in cholangiocarcinoma and other cancers. These articles provide detailed information on the genetic changes in ARID1A and its role in cancer development and progression.
• Other Databases: In addition to the mentioned databases, there are other resources and databases available that contain information on ARID1A and its role in various diseases and conditions. These databases can be used for further research and reference.