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The CDKN1B gene, also known as p27kip1, is a key inhibitor of cyclin-dependent kinase (CDK) activity. It plays a crucial role in regulating the cell cycle and preventing the uncontrolled proliferation of cells. Mutations in this gene have been associated with various diseases, including pituitary neoplasia.

Scientists have quickly recognized the importance of CDKN1B in understanding and treating cancer. The gene provides vital information when other resources and tests fail to identify the underlying causes of the disease. In fact, CDKN1B mutations occur in both cancerous and noncancerous conditions, making it an important genetic factor to consider in the diagnosis and treatment of various health problems.

The CDKN1B gene is listed in multiple genetic databases, such as OMIM and the National Center for Biotechnology Information’s Gene database. These databases provide researchers with a wealth of scientific articles and references that explore the role of CDKN1B in controlling cell growth and its significance in various endocrine-related conditions.

Given its central role in regulating the cell cycle, understanding the function of CDKN1B is crucial for developing targeted therapies and treatments for diseases such as pituitary neoplasia. Researchers and clinicians can rely on the information found in these databases to stay up-to-date with the latest discoveries and advancements in CDKN1B-related research.

In conclusion, the CDKN1B gene, also known as p27kip1, is an important genetic component in the regulation of cell growth and the development of various endocrine-related conditions. Its function as a key inhibitor of cyclin-dependent kinase activity makes it an essential target for further research and therapeutic interventions.

Genetic changes in the CDKN1B gene can lead to various health conditions related to the endocrine system, which is responsible for the central regulation of bodily functions. These genetic changes affect the function of the CDKN1B gene, also known as cyclin-dependent kinase inhibitor 1B, and can result in the development of different diseases and tumors.

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When genetic changes occur in the CDKN1B gene, it can disrupt the production of the p27kip1 protein, which acts as a cell cycle inhibitor. Without the normal function of the p27kip1 protein, cells can grow and divide more quickly, leading to the development of neoplasia and other diseases.

One specific health condition related to genetic changes in the CDKN1B gene is multiple endocrine neoplasia type 4 (MEN4). MEN4 is characterized by the development of noncancerous tumors in the endocrine glands, such as the pituitary gland. These tumors can cause an excess production of hormones and lead to various health problems.

To diagnose these genetic changes and related health conditions, genetic testing can be performed. Testing for CDKN1B gene mutations can be done through various resources, including genetic testing laboratories, databases, and registries. Additional information on genetic changes and related health conditions can be found in scientific articles listed in PubMed and OMIM.

  1. Genetic Testing: Genetic testing for CDKN1B gene mutations can be done through various resources, including genetic testing laboratories, databases, and registries.
  2. Scientific Articles: PubMed and OMIM provide references to scientific articles that provide more information on genetic changes in the CDKN1B gene and their association with health conditions.
  3. MEN4: Multiple endocrine neoplasia type 4 (MEN4) is a health condition characterized by the development of noncancerous tumors in the endocrine glands.
  4. Testing Resources: Resources for genetic testing, such as laboratories and databases, can provide information on testing for CDKN1B gene mutations and related health conditions.

Overall, genetic changes in the CDKN1B gene can lead to various health conditions related to the endocrine system. Understanding these genetic changes and their impact on cell function is crucial for the diagnosis and management of these conditions.

Multiple endocrine neoplasia

Multiple endocrine neoplasia refers to a group of genetic conditions that cause tumors to develop in the endocrine glands. These glands are responsible for producing hormones that regulate various functions in the body. The three main types of multiple endocrine neoplasia are:

  • Multiple Endocrine Neoplasia type 1 (MEN1)
  • Multiple Endocrine Neoplasia type 2A (MEN2A)
  • Multiple Endocrine Neoplasia type 2B (MEN2B)

In individuals with multiple endocrine neoplasia, the CDKN1B gene may have genetic changes or mutations that affect its function. This gene provides instructions for making a protein called p27Kip1, which is an important regulator of cell growth and division. Mutations in the CDKN1B gene can disrupt the normal function of p27Kip1, leading to uncontrolled cell growth and the formation of tumors.

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The CDKN1B gene is listed in various scientific databases, such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Central Registry of Information on Rare Diseases (Orphanet). These resources provide information on the genetic changes, functions, and related diseases associated with the CDKN1B gene.

Testing for mutations in the CDKN1B gene can be performed to diagnose multiple endocrine neoplasia and related conditions. Additional genetic testing may also be done to identify mutations in other genes that are involved in the development of these tumors. Genetic testing can help healthcare providers determine the appropriate treatment and management options for individuals with multiple endocrine neoplasia.

It is important to quickly diagnose and treat multiple endocrine neoplasia to prevent the growth and spread of tumors. Treatment options for multiple endocrine neoplasia may include surgery, medication, and regular monitoring of hormone levels and tumor growth.

References:

  1. Pellegata NS. Multiple endocrine neoplasia type 1 (MEN1): an update and the significance of early genetic and clinical diagnosis. Front Horm Res. 2013;41:35-40. doi: 10.1159/000345670. PMID: 24002349.
  2. Natl Cen for Biotechnology Information, U.S. National Library of Med. CDKN1B cyclin-dependent kinase inhibitor 1B [Homo sapiens (human)]. Gene (Gene Tests summary) – HOVERGEN: Gene ID: 1027, updated on 9-Mar-2021.
  3. PubMed Health. CDKN1B gene: cyclin-dependent kinase inhibitor 1B. Reviewed by: Gouri Rao, MD, MHS, 2021.

Other tumors

CDKN1B gene mutations can also occur in other types of tumors. Here are some examples:

  • Multiple endocrine neoplasia type 4 (MEN4): In MEN4, mutations in the CDKN1B gene lead to an increased risk of developing tumors in the pituitary gland and other endocrine glands.
  • Noncancerous pituitary adenomas: CDKN1B gene mutations have been found in noncancerous tumors of the pituitary gland. These tumors can affect hormone production and cause various endocrine disorders.

In addition to these specific types of tumors, mutations in the CDKN1B gene have also been associated with a higher risk of developing other types of cancer. Further scientific research is ongoing to investigate the role of CDKN1B gene mutations in tumor development and the potential impact on cancer treatment.

To learn more about CDKN1B gene variants and their association with different tumors and conditions, you can refer to the scientific literature and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional information, references, and articles related to the genetic changes and functions of the CDKN1B gene.

Other Names for This Gene

  • CDKN1B gene
  • CDKN4 gene
  • CGP1 gene
  • MEN1B gene

The CDKN1B gene is also known by several other names, which are used in various scientific resources and databases. These names are listed below:

  • National Institutes of Health (Natl Institurof Health) – This is the common name used by the National Institutes of Health in their database and publications.
  • Cell Growth Control (Cell) – This name reflects the gene’s function in regulating cell growth and division.
  • Tumor Suppressor (Tumors) – This name emphasizes the gene’s role as a tumor suppressor, meaning it helps to prevent the formation of tumors.
  • Inhibitor of CDK (Inhibitor) – This name highlights the gene’s role in blocking the activity of cyclin-dependent kinases (CDKs), which are proteins that regulate cell cycle progression.
  • Variant of MEN1B gene (Variant) – This name indicates that the CDKN1B gene is a variant of the MEN1B gene, which is associated with multiple endocrine neoplasia type 1B, a genetic condition characterized by the development of noncancerous tumors in endocrine glands.

These are just a few of the many names that have been used to refer to the CDKN1B gene. Different names may be used in different scientific articles, databases, and resources, so it is important to be aware of these alternative names when conducting research or testing related to this gene’s function and genetic changes in diseases.

For additional information about the CDKN1B gene and its related diseases, you may refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM) – This online catalog provides detailed information about genetic conditions and the genes associated with them. The CDKN1B gene is listed in the OMIM database with its associated diseases and mutations.
  2. PubMed – This online database contains a vast collection of scientific articles and references. Searching for the CDKN1B gene in PubMed can provide you with a wide range of research studies and findings related to this gene’s function and its role in various diseases.
  3. National Center for Biotechnology Information (NCBI) – This resource provides access to various databases and tools that can be used to study genes, proteins, and diseases. The NCBI Gene database and the NCBI Protein database contain detailed information about the CDKN1B gene and the proteins it produces.
  4. The Human Gene Mutation Database (HGMD) – This database is a comprehensive repository of genetic mutations that have been linked to human diseases. It can be a valuable resource for studying genetic changes in the CDKN1B gene and their impact on health and disease.
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These resources can help you quickly access relevant information and expand your understanding of the CDKN1B gene and its function in various genetic conditions and diseases.

Additional Information Resources

Here is a list of additional resources where you can find more information about the CDKN1B gene and related topics:

  • National Institutes of Health Genetic Testing Registry – Provides information on genetic tests for CDKN1B and other genes associated with various diseases and conditions.
  • Endocrine and Metabolic Diseases – Central hub for information on endocrine diseases and conditions, including neoplasia. This website covers a wide range of topics related to the CDKN1B gene and its function.
  • PubMed – Search for scientific articles and studies related to CDKN1B. This database contains a vast collection of research papers on the gene.
  • PubMed Central – Provides free access to a large collection of scientific articles and references. You can find articles on CDKN1B and related topics here.
  • Endocrine-Related Cancer – Scientific journal that publishes articles and research papers on endocrine-related conditions and diseases. This resource can provide in-depth information on the role of CDKN1B in endocrine tumors.
  • Genetic Variants and Diseases – Catalog of genetic variants associated with diseases. You can find information on different mutations in the CDKN1B gene and their impact on health.
  • The CDKN1B Gene: A Comprehensive Analysis – A comprehensive analysis of the CDKN1B gene and its role in cell cycle control. This resource provides a detailed overview of the gene’s function and its implications in various diseases.

These resources can help you quickly find more information on the CDKN1B gene, its function, associated diseases, and genetic testing options. Make sure to consult reliable and scientific sources when researching this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a central location for genetic testing information. The GTR is a resource that is designed to help health professionals and researchers identify genetic tests for their patients and studies.

Among the tests listed in the GTR are those related to CDKN1B gene, which is also known as p27kip1. This gene plays a role in the control of cell cycle progression by inhibiting cyclin-dependent kinase, thus acting as a tumor suppressor. Mutations in the CDKN1B gene can lead to the occurrence of multiple endocrine neoplasia type 4 (MEN4), a condition characterized by the development of noncancerous tumors in the pituitary and other endocrine glands.

Genetic testing can help identify mutations in the CDKN1B gene or other related genes that may be responsible for the development of MEN4 or other endocrine conditions. These tests can provide valuable information about the genetic changes occurring within the cells and may assist in the management and treatment of affected individuals.

Additional information about genetic testing for CDKN1B gene mutations can be found in the GTR catalog. This catalog provides a comprehensive list of tests available for various genetic diseases and conditions. It includes detailed information about each test, including the genes tested, the variant names, and the scientific references. The GTR catalog is regularly updated with new tests and information.

For more resources on CDKN1B gene mutations and related conditions, you may refer to the Online Mendelian Inheritance in Man (OMIM) database and PubMed articles. These databases provide extensive information on the genetic basis, clinical features, and management of various genetic disorders and conditions.

Scientific Articles on PubMed

The CDKN1B gene, also known as p27kip1, is a genetic variant that codes for the p27kip1 protein. This protein acts as an inhibitor for cyclin-dependent kinases (CDKs), which are important in controlling the cell cycle.

There are several scientific articles available on PubMed that provide information on the CDKN1B gene and its role in various diseases and conditions:

  • Noncancerous cell type changes in the pituitary gland: Several studies have investigated the role of CDKN1B gene mutations in noncancerous tumors of the pituitary gland. These mutations can lead to changes in the function of the pituitary cells and contribute to the development of pituitary adenomas.
  • Genetic testing and related diseases: CDKN1B gene mutations are also associated with multiple endocrine neoplasia type 4 (MEN4) and other genetic conditions. Genetic testing for these mutations can help diagnose these diseases and provide additional information for health management.
  • Catalog of genetic changes: The CDKN1B gene is listed within the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of genetic conditions and their associated genes.
  • Role of p27kip1 in other diseases: Scientific articles have explored the role of p27kip1 in conditions beyond endocrine diseases, including various cancers and cardiovascular diseases.
See also  ALK gene

PubMed is a valuable resource for accessing scientific articles related to the CDKN1B gene. It provides a centralized database for researchers to quickly find relevant information on the gene, its various genetic changes, and their implications in different diseases and conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on the CDKN1B gene, related diseases, and genetic changes associated with these conditions.

OMIM, short for Online Mendelian Inheritance in Man, is a genetic database that catalogues human genes and genetic disorders. It is widely used by researchers and healthcare professionals for genetic testing, diagnosis, and treatment planning.

The CDKN1B gene, also known as cyclin-dependent kinase inhibitor 1B, plays a crucial role in regulating cell division and growth. Mutations in this gene can lead to various diseases, particularly endocrine neoplasia. These noncancerous tumors occur in the endocrine organs, such as the pituitary gland.

This catalog provides a comprehensive list of diseases and conditions related to CDKN1B gene mutations. It includes the names of the diseases, genetic changes, and the type of genetic testing available for each condition. Additionally, it provides references to scientific articles and resources for further information.

Within the catalog, you can find information on multiple proteins and their functions, which are listed as part of the CDKN1B gene. These proteins play a crucial role in regulating cell cycle progression and ensuring proper division of cells.

For healthcare professionals and researchers, this catalog serves as a quick reference to identify genetic changes and associated diseases. It provides information on testing options, control samples, and other relevant resources for each condition.

The catalog also contains a registry of patients with CDKN1B gene mutations. This registry facilitates research and collaboration among healthcare professionals, allowing them to quickly access information on patients with specific genetic variants.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the role of the CDKN1B gene in endocrine neoplasia and related conditions. It provides comprehensive information on genetic changes, testing options, and references to scientific articles for further exploration.

Gene and Variant Databases

The CDKN1B gene, also known as p27kip1, is a key regulator of cell cycle progression and acts as a tumor suppressor. Mutations in this gene can lead to a variety of conditions, including endocrine neoplasia type 4 (EN4) and multiple endocrine neoplasia type 1 (MEN1), where changes in the CDKN1B gene are associated with the development of tumors in the pituitary and other endocrine glands.

For researchers and healthcare providers studying or treating endocrine-related diseases, there are several databases that provide valuable information on the CDKN1B gene and its variants. These databases serve as central resources for genetic testing, scientific articles, and additional resources.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on the function of the CDKN1B gene, associated diseases, and variant names. This database is widely used by researchers and healthcare professionals to quickly access information on genetic conditions.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a vast amount of information on the CDKN1B gene and its function in various diseases. Researchers can search for specific articles related to the gene and its variants.
  • National Institutes of Health (NIH) Genetic Testing Registry: The NIH Genetic Testing Registry provides access to a wide range of genetic tests, including tests for CDKN1B gene mutations. This resource helps healthcare providers and researchers find available testing options for specific genetic conditions.

In addition to these databases, there are other resources available for obtaining information on CDKN1B gene variants. Some of these resources include scientific publications, online articles, and specialized databases focused on specific types of endocrine diseases.

Overall, gene and variant databases are essential tools for researchers, healthcare providers, and individuals interested in understanding the role of the CDKN1B gene in various diseases. They provide valuable information on the genetic basis of conditions, facilitate genetic testing, and contribute to scientific advancements in the field of endocrine neoplasia.

References

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