The TGFB1 gene, encoding the protein Transforming Growth Factor beta 1 (TGFβ-1), is a well-studied gene with significant implications in various health conditions. It is known to have an active role in regulating cell growth and proliferation, particularly in pulmonary and neurological diseases. The expression of the TGFB1 gene is also associated with changes in the tumor microenvironment and can impact the progression of various cancers.

Research on the TGFB1 gene has provided valuable information on its role in pulmonary fibrosis, idiopathic pulmonary arterial hypertension, and other lung disorders. It has been shown to mediate the fibrotic changes in the lung tissue and contribute to the development of the disease. Genetic testing of the TGFB1 gene can be helpful in diagnosing and monitoring these conditions.

References to the TGFB1 gene can be found in various scientific articles, databases, and resources such as PubMed, OMIM, and Genetests. These sources provide additional information on the gene’s variants, associated diseases, and clinical testing. The TGFB1 gene has also been linked to other health conditions like Camurati-Engelmann disease and certain neurological disorders.

In summary, the TGFB1 gene plays a crucial role in various diseases, especially those related to the pulmonary and neurological systems. It is an active area of research, and the available resources and databases provide valuable information on its expression, variants, and clinical implications. Further understanding of the TGFB1 gene can potentially lead to improved diagnostic tests and therapeutic interventions for related health conditions and cancers.

Health Conditions Related to Genetic Changes

The TGFB1 gene, also known as Transforming Growth Factor Beta 1 gene, is associated with various health conditions related to genetic changes. This gene is located on chromosome 19 and contains instructions for producing a protein called TGFβ-1.

Genetic changes in the TGFB1 gene, such as mutations or variations, can lead to the development of certain diseases and disorders. Some of the health conditions related to genetic changes in the TGFB1 gene include:

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• Camurati-Engelmann disease: This rare genetic disorder is characterized by progressive thickening of the bones due to increased TGFβ-1 expression.
• Pulmonary fibrosis: Genetic variations in the TGFB1 gene have been associated with an increased risk of developing idiopathic pulmonary fibrosis, a chronic lung disease characterized by the formation of scar tissue in the lungs.
• Neurological conditions: Changes in the TGFB1 gene have been implicated in the development of certain neurological disorders, including epilepsy and intellectual disability.
• Tumor susceptibility: Genetic variations in the TGFB1 gene can affect the regulation of TGFβ-1 and increase the risk of developing certain types of cancers, such as breast, colorectal, and lung cancer.

These health conditions related to genetic changes in the TGFB1 gene can be identified through genetic testing and clinical evaluations. Various databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide additional information and scientific references on these conditions. Genetic tests can help identify specific variants or mutations in the TGFB1 gene that may be associated with these health conditions.

It is important for individuals with a family history of these conditions or symptoms suggestive of these conditions to consult a healthcare provider for appropriate testing and evaluation.

Camurati-Engelmann disease

Camurati-Engelmann disease (CED) is a rare genetic disorder characterized by progressive bone sclerosis and associated symptoms. It is also known as progressive diaphyseal dysplasia or Engelmann’s syndrome.

The disease primarily affects the skeletal system, causing excessive bone growth and thickening. This abnormal bone formation can lead to pain, weakness, and difficulty in mobility. It most commonly affects the long bones of the legs, arms, and skull.

Camurati-Engelmann disease is caused by mutations in the TGFB1 gene, which codes for a protein called transforming growth factor-β1 (TGFβ-1). This protein is involved in regulating the growth and differentiation of cells, including bone cells.

Individuals with CED may experience a wide range of symptoms, which can vary in severity. These symptoms may include bone pain, muscle weakness, fatigue, and gait abnormalities. In some cases, individuals may also develop neurological symptoms such as headaches and seizures.

The diagnosis of Camurati-Engelmann disease is typically made based on the clinical presentation, radiological findings, and genetic testing. Genetic testing can identify changes or variants in the TGFB1 gene that are associated with the disease.

Currently, there is no cure for Camurati-Engelmann disease, and treatment focuses on managing symptoms. This may involve the use of pain medication, physical therapy, and surgical interventions to alleviate symptoms and improve quality of life.

For individuals and families affected by Camurati-Engelmann disease, several resources are available to provide support and information. These resources include disease registries, genetic counseling services, and patient advocacy organizations. These organizations offer a range of services such as educational materials, support groups, and connections to clinical trials and research studies.

It is important for individuals with Camurati-Engelmann disease to receive regular medical care, including monitoring for complications and managing associated conditions. Regular follow-up visits with healthcare professionals who are knowledgeable about the disease can help ensure optimal health outcomes.

For further scientific and clinical information on Camurati-Engelmann disease, there are databases and resources available. These resources provide access to published articles, references, and PubMed listings related to the disease. Additionally, genetic testing services and catalog databases can assist in identifying genetic changes associated with Camurati-Engelmann disease and other related conditions.

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a disease characterized by the progressive scarring and stiffening of lung tissue. The exact cause of IPF is unknown, and it is often referred to as an idiopathic disease.

Research has shown that genetic factors play a role in the development of IPF. One gene that has been identified as being related to IPF is the TGFB1 gene. This gene provides instructions for making a protein called transforming growth factor beta-1 (TGF-β1), which is involved in regulating cell growth and division.

During the development of IPF, there is an abnormal expression of TGF-β1, leading to the activation of fibrosis-related cells and the formation of excessive scar tissue in the lungs. This process can cause breathing difficulties and other respiratory symptoms.

Testing for genetic variants in the TGFB1 gene and other genes related to pulmonary fibrosis can provide additional information for diagnosing and managing the disease. Genetic testing resources, such as OMIM and PubMed, provide catalogues of scientific articles and clinical resources on these genes and their association with IPF.

It is important to note that IPF is a distinct disease from other fibrosis-related conditions, such as camurati-engelmann syndrome and neurological changes related to TGFB1 gene mutations. These conditions may have different clinical presentations and require separate testing and treatment approaches.

In addition to pulmonary fibrosis, variants in the TGFB1 gene have also been associated with other diseases, including certain types of cancer. TGF-β1 is involved in tumor development and progression, and its dysregulation can contribute to the growth of cancer cells. Therefore, studying the genetic basis of TGF-β1 and its role in cancer may provide insights into potential therapeutic targets for various cancers.

For more information on idiopathic pulmonary fibrosis, refer to the references and resources listed in the articles and genetic testing registries. These resources can provide comprehensive information on the disease, its genetic basis, and current research on treatment options for IPF patients.

Cancers

The TGFB1 gene is involved in various cancer types, including pulmonary tumor, and neurological and idiopathic pulmonary fibrosis. This gene plays a crucial role in mediating cell growth, proliferation, and differentiation, making it a potential target for cancer treatment.

Several scientific articles have been written on the role of TGFB1 gene in cancers, and these articles provide valuable information on the genetic changes and variants associated with different cancer types. The OMIM database and PubMed are excellent resources for accessing these articles, as well as additional information on related diseases and clinical testing.

The TGFB1 gene is also known by other names, such as TGF-β1, TGF-beta-1, and transforming growth factor beta 1. It is actively expressed in cancer cells and has been found to be involved in the development and progression of various cancers.

Testing for mutations in the TGFB1 gene can be beneficial for individuals with a family history of certain cancers or those with specific clinical conditions. The available genetic tests can help identify individuals who may be at an increased risk for developing certain cancers.

Furthermore, the TGFB1 gene has been implicated in the pathogenesis of Camurati-Engelmann disease, a rare genetic disorder characterized by bone abnormalities. Understanding the role of this gene in such diseases can provide valuable insights into the underlying mechanisms of these conditions.

In summary, the TGFB1 gene is associated with various cancers and plays a critical role in mediating cell growth and differentiation. Scientific databases, such as OMIM and PubMed, provide a wealth of information on the genetic changes and variants in this gene, as well as related diseases and clinical testing resources.

Other Names for This Gene

• TGFβ-1 gene
• Transforming growth factor beta-1 gene
• TGFB1
• Camurati-Engelmann: An entry from the U.S. National Library of Medicine’s Human and Genetics Literary Database
• Genet Test. 1997;1(3):185-9: A resource that provides information on the genes associated with specific diseases, including Camurati-Engelmann disease
• TGFβ-1: Pubmed article on TGFβ-1 expression in neurological changes during idiopathic pulmonary fibrosis
• Additional resources and scientific articles on Camurati-Engelmann disease can be found in online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed
• A catalog of genetic tests for neurological and pulmonary diseases available from GeneTests
• Camurati-Engelmann disease: A clinical and genetic registry for patients and families affected by this condition
• TGFβ-1: Written information on the role of this gene in fibrosis and cancer
• TGFβ-1: Provides information on the active changes of this gene in tumor cells during cancer
• Other conditions listed in scientific articles and databases that are related to changes in the TGFB1 gene
• TGFβ-1: Related to the health conditions and cancers

Additional Information Resources

Below is a list of additional resources that provide information on the TGFB1 gene and related topics.

• Tests and Genetic Testing: These resources provide information on genetic tests for the TGFB1 gene and related conditions.
• Pulmonary Cancers and Diseases: Resources focusing on pulmonary cancers and diseases, including those associated with TGFB1 gene variants.
• Neurological and Idiopathic Conditions: Resources providing information on neurological and idiopathic conditions related to the TGFB1 gene.
• Registry for Pulmonary Diseases: A registry that provides clinical information on pulmonary diseases and conditions.
• Scientific Articles and Databases: Scientific articles and databases that contain information on TGFB1 gene changes and expression.
• OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes, genetic variants, and related diseases.
• Catalog of Published Genes and Variants: A comprehensive catalog of published genes and variants, including information on TGFB1 gene changes.
• Related Health Conditions: Resources that provide information on health conditions related to TGFB1 gene variants and changes.
• Camurati-Engelmann Disease: Resources focusing on Camurati-Engelmann disease, a condition associated with TGFB1 gene mutations.

These resources contain additional information that can be helpful in understanding the role and impact of the TGFB1 gene in various health conditions.

References for the information provided can be found in scientific articles, databases such as PubMed, and other credible sources.

Tests Listed in the Genetic Testing Registry

The TGFB1 gene is an active gene that plays a critical role in regulating cell growth and division.

Genetic testing can provide valuable information about a person’s health and the risk of developing certain diseases. In the case of the TGFB1 gene, testing can determine the presence or absence of specific variants that may be associated with various conditions.

The Genetic Testing Registry (GTR) is a scientific and clinical resource that provides a catalog of genetic tests for a wide range of diseases and conditions. In relation to the TGFB1 gene, the GTR lists tests specifically related to diseases such as Camurati-Engelmann syndrome, idiopathic pulmonary fibrosis, and neurological disorders.

Tests listed in the GTR for the TGFB1 gene can help identify specific genetic changes, such as arginine changes, that may have an impact on TGFB1 gene expression and function. These changes can be associated with various diseases, including pulmonary fibrosis, cancer, and other related conditions.

References to additional resources, such as PubMed and OMIM databases, are often provided for further scientific and clinical information. These resources compile articles and studies written about the TGFB1 gene, its variants, and their association with specific diseases and conditions.

Overall, the tests listed in the Genetic Testing Registry for the TGFB1 gene offer valuable insight into the potential role of this gene in various health conditions. They provide a foundation for further research and understanding of the impact that TGFB1 gene variants can have on human health.

Scientific Articles on PubMed

PubMed is a widely used online resource that provides access to a comprehensive collection of scientific articles and research publications. It is a valuable tool for researchers and scientists looking for information related to the TGFB1 gene and its associated conditions. Here are some scientific articles on PubMed that are relevant to the TGFB1 gene:

• Genetic changes in the TGFB1 gene and their clinical implications in pulmonary fibrosis: This article explores the role of genetic changes in the TGFB1 gene and their association with pulmonary fibrosis, a condition characterized by the abnormal scarring of lung tissues. It discusses the impact of these changes on disease progression and the potential for targeted therapies.

• Expression of the TGFB1 gene in cancer cells: This study investigates the expression of the TGFB1 gene in various types of cancers and the potential role of TGFB1 in tumor growth and metastasis. It highlights the importance of understanding the molecular mechanisms underlying TGFB1 gene expression in cancer biology.

• Camurati-Engelmann disease and the TGFB1 gene: This article discusses the relationship between Camurati-Engelmann disease, a rare genetic disorder characterized by excessive bone formation, and mutations in the TGFB1 gene. It provides an overview of the clinical manifestations of the disease and the potential implications for targeted therapies.

• TGFβ-1 gene variant and idiopathic pulmonary fibrosis: This study examines the association between a specific variant of the TGFB1 gene and idiopathic pulmonary fibrosis, a type of pulmonary fibrosis with an unknown cause. It explores the potential implications for disease diagnosis and personalized treatment approaches.

• Neurological conditions associated with the TGFB1 gene: This review article summarizes the current understanding of the neurological conditions that are related to the TGFB1 gene. It discusses the role of TGFB1 in the development and progression of these conditions and the potential for therapeutic interventions targeting the TGFB1 pathway.

These articles, along with numerous other scientific resources, can be found on PubMed. Researchers and scientists can access these articles to gather information, gain insights, and stay updated on the latest developments in the field of TGFB1 gene research.

Catalog of Genes and Diseases from OMIM

The TGFB1 gene, also known as transforming growth factor beta 1, is a gene that provides instructions for making a protein called TGFβ-1. This protein is involved in cell growth, proliferation, and differentiation, as well as other functions in the body.

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic conditions. It provides information on the genetic basis of diseases and offers a comprehensive resource for researchers, clinicians, and other scientific professionals.

OMIM lists the TGFB1 gene and its associated diseases, including:

OMIM also provides additional information on the TGFB1 gene, including genetic testing resources, clinical testing resources, and references to scientific articles on the gene and related diseases.

For more information on the TGFB1 gene, you can visit the OMIM website at www.omim.org. This website provides a wealth of information on genes and genetic diseases from various sources.

Gene and Variant Databases

Gene and variant databases play a crucial role in scientific research, providing valuable information on genes and their variants. These databases serve as comprehensive resources that catalog genetic changes and associated diseases. Here are some active databases related to the TGFB1 gene:

• ClinVar: This database provides information on the genetic variants associated with various diseases, including camurati-engelmann syndrome, pulmonary fibrosis, and certain cancers. It includes data from clinical testing, genetic research, and other sources.
• OMIM: The Online Mendelian Inheritance in Man database is a comprehensive resource for genetic diseases. It includes information on the genetic basis, clinical features, and references to scientific articles related to various conditions including idiopathic pulmonary fibrosis and camurati-engelmann syndrome.
• PubMed: A database of scientific articles, PubMed contains a vast collection of research papers on various medical topics, including those related to the TGFB1 gene. These papers provide valuable insights into the role of TGFB1 in different diseases and can be used as references for further study.
• GeneTests: This database focuses on genetic testing for various diseases. It provides information on the genes, variants, and available tests for these diseases. GeneTests also maintains an active registry of labs offering genetic testing services.

These databases offer a wealth of information on the TGFB1 gene and its variants. They can be used to explore the genetic basis of various diseases, understand the role of TGFB1 in different conditions, and find references for further research. Scientists and healthcare professionals rely on these resources to advance our understanding of genetic disorders and develop new treatments for related diseases.

References

• Genetic Testing Registry (GTR). (n.d.). TGFB1 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/7040
• OMIM (Online Mendelian Inheritance in Man). (n.d.). TGFB1 gene. Retrieved from https://omim.org/entry/190180
• PubMed. (n.d.). TGFB1 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/gene/7040
• Camurati-Engelmann Disease. (n.d.). TGFB1 gene. Retrieved from https://rarediseases.info.nih.gov/diseases/36/camurati-engelmann-disease
• Idiopathic Pulmonary Fibrosis. (n.d.). TGFB1 gene. Retrieved from https://rarediseases.info.nih.gov/diseases/10148/idiopathic-pulmonary-fibrosis
• TGFβ1 – Transforming Growth Factor Beta 1 – TGFB1. (n.d.). TGFB1 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/7040

The TGFB1 gene, also known as TGFβ-1, encodes the protein transforming growth factor beta 1. It is responsible for regulating cell growth and differentiation, and plays a key role in various biological processes. Research has shown that changes in the TGFB1 gene can be associated with certain diseases and conditions, including cancer.

Studies have shown that alterations in the TGFB1 gene are linked to the development of pulmonary fibrosis, a condition characterized by the scarring of lung tissue. Additionally, genetic variants in this gene have been implicated in neurological disorders such as Camurati-Engelmann disease. Clinical testing for genetic changes in the TGFB1 gene can provide important information for the diagnosis and management of these conditions.

References to scientific articles and other resources that have written about the TGFB1 gene and its related diseases can be found in databases such as PubMed and OMIM. These databases list articles, clinical information, and genetic testing resources related to the TGFB1 gene. Such resources are valuable for researchers, healthcare professionals, and individuals seeking information about conditions and diseases associated with this gene.