The SMAD3 gene is a critical player in the development and regulation of various biological processes, particularly in the context of cardiovascular health. This gene has been extensively studied and its role has been dissected in different scientific articles, using various tests and experiments.

One area of interest in relation to the SMAD3 gene is its involvement in the development of aortic aneurysm and related diseases. Multiple scientific studies have investigated the changes that occur in the SMAD3 gene in patients with these conditions. The findings from these studies have provided valuable information on the genetic variant and its contribution to the pathogenesis of thoracic aortic aneurysm.

Researchers have also explored the complex interplay between the SMAD3 gene and other related proteins. By studying the proteins that interact with the SMAD3 gene, scientists have gained insights into the central role of this gene in regulating cell proliferation and the overactive function of the nucleus in certain conditions.

In addition to these scientific articles, there are several resources available for further information on the SMAD3 gene and related conditions. The PubMed database provides a catalog of references to articles examining the role of this gene in various diseases. The Online Mendelian Inheritance in Man (OMIM) database also provides comprehensive information on the SMAD3 gene and its association with different genetic conditions, including Loeys-Dietz syndrome.

Furthermore, there are specific databases and registries that focus on familial thoracic aortic aneurysm and related conditions. These resources provide access to additional information on the SMAD3 gene and other genes involved in these diseases. Testing for genetic variants in the SMAD3 gene can be performed for individuals with a family history of thoracic aortic aneurysm or other related conditions.

In conclusion, the SMAD3 gene plays a crucial role in the development and regulation of various biological processes, particularly in cardiovascular health. Scientific articles have dissected its role in aortic aneurysm and related diseases, while additional resources provide further information on its genetic variants and associated conditions. The study of the SMAD3 gene and its related genes is essential for understanding the underlying mechanisms of these diseases and developing effective diagnostic tests and treatment strategies.

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Health Conditions Related to Genetic Changes

Genetic changes can have a significant impact on an individual’s health. Certain conditions, such as Loeys-Dietz syndrome and familial thoracic aortic aneurysm and dissection, are specifically related to genetic changes in the SMAD3 gene.

Articles and scientific resources on these health conditions provide valuable information on the related genetic tests, genes, and proteins. These resources are essential for understanding the implications of genetic changes and possible treatment options.

The Online Mendelian Inheritance in Man (OMIM) catalog lists the SMAD3 gene variant and its associated health conditions. The variant is linked to aortic dissection, thoracic aortic aneurysm, and Loeys-Dietz syndrome. Additional information on these conditions can be found in scientific articles and references from PubMed.

Testing for genetic changes in the SMAD3 gene is crucial for individuals with a family history of Loeys-Dietz syndrome or familial thoracic aortic aneurysm and dissection. These tests can help identify those at risk and facilitate early intervention and monitoring.

The genetic changes in the SMAD3 gene lead to an overactive proliferation of smooth muscle cells in the aorta, which weakens the aortic wall. This weakening can ultimately result in a thoracic aortic aneurysm and dissection.

The National Heart, Lung, and Blood Institute’s GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry provides resources on genetic testing and management options for thoracic aortic aneurysm and related conditions. This registry is a valuable source of information for individuals and healthcare professionals.

In addition to the SMAD3 gene, other genes have also been identified as related to thoracic aortic aneurysm and dissection. These include genes involved in the TGF-beta signaling pathway, such as TGFBR1 and TGFBR2. Testing for changes in these genes can provide further insight into the underlying causes of these conditions.

Databases and catalogs, such as the Human Gene Mutation Database (HGMD), can further aid in identifying genetic changes and their associated health conditions. These resources contain comprehensive information on genetic variants and their implications.

In summary, genetic changes in the SMAD3 gene and other related genes can lead to various health conditions, including Loeys-Dietz syndrome and familial thoracic aortic aneurysm and dissection. Genetic testing and resources from scientific articles, databases, and registries play a vital role in understanding these conditions and developing appropriate management strategies.

Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a genetic disorder that affects connective tissues and is characterized by a range of cardiovascular, skeletal, and facial features.

• Conditions: Individuals with Loeys-Dietz syndrome may present with aortic aneurysm, thoracic aortic dissection, and other cardiovascular abnormalities. They may also have skeletal changes such as scoliosis, joint laxity, and an overactive growth of the skin.
• Tests: Genes related to Loeys-Dietz syndrome include the SMAD3 gene, as well as other genes involved in the TGF-beta signaling pathway. Testing for these genes can be done through genetic testing services and laboratories.
• Surface proteins: The SMAD3 gene codes for proteins that are located in the nucleus and play a central role in the TGF-beta signaling pathway. Changes in the SMAD3 gene can lead to an overactive proliferation of cells and abnormal growth of tissues.
• Related diseases: Loeys-Dietz syndrome is classified as a variant of familial thoracic aortic aneurysm and dissection. It shares similarities with Marfan syndrome and Ehlers-Danlos syndrome, but also has distinct features that differentiate it from these conditions.
• Resources: Additional information on Loeys-Dietz syndrome can be found in scientific articles, databases, and health resources such as PubMed, OMIM, and the Loeys-Dietz Syndrome Foundation’s registry. These resources provide references, articles, and testing information for individuals and healthcare professionals.

Familial thoracic aortic aneurysm and dissection

Familial thoracic aortic aneurysm and dissection is a condition characterized by an overactive SMAD3 gene. This gene is related to the proliferation of proteins involved in the development and maintenance of the central nucleus of the thoracic aortic wall. Changes in this gene can lead to the development of thoracic aortic aneurysm and dissection.

Testing for variants in the SMAD3 gene can be done to identify individuals at risk for familial thoracic aortic aneurysm and dissection. Additional genetic testing may also be necessary to determine if other genes or conditions are involved. The Loeys-Dietz syndrome gene database and other genetic databases can provide useful information on related genes and scientific articles.

References to scientific articles and related resources can be found in databases such as PubMed, OMIM, and other scientific literature databases. These resources can provide valuable information on the genetic changes, genetic testing, and other related conditions associated with familial thoracic aortic aneurysm and dissection.

In the article, it is important to provide information on the symptoms and complications of familial thoracic aortic aneurysm and dissection. This can include details on the risk factors, diagnostic tests, and treatment options available for individuals with this condition.

Furthermore, it may be beneficial to include information on ongoing research and clinical trials related to familial thoracic aortic aneurysm and dissection. This can provide readers with the latest updates and potential future developments in the understanding and management of this condition.

In conclusion, familial thoracic aortic aneurysm and dissection is a complex condition related to an overactive SMAD3 gene. Genetic testing and resources can provide valuable information on this condition and related genes. Ongoing research and clinical trials are important for further understanding and managing this condition.

Other Names for This Gene

The SMAD3 gene is also known by the following names:

• ANEURI
• LOEYDIETZ
• OAB
• MADH3
• HsSmad3
• MGC60396
• hSMAD3
• HsTGFBR1
• MFS2
• HSPC19391

These additional names for the SMAD3 gene are related to various scientific articles, conditions, and diseases in the field of genetics. They can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed Central, which provide resources and references for related genes and diseases.

Additional Information Resources

Here is a list of additional resources for more information on the SMAD3 gene:

• PubMed: A database of scientific articles with references on the SMAD3 gene and related diseases and conditions. You can search for articles and access abstracts or full-text articles.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on SMAD3 and related conditions.
• LOEYS-DIETZ Syndrome: This is a registry for individuals with Loeys-Dietz syndrome, a genetic disorder associated with SMAD3 mutations. The registry provides information and resources for patients and medical professionals.
• Genetic Testing: If you suspect you have a SMAD3 gene mutation or are at risk for thoracic aortic aneurysm, genetic testing may be recommended. Speak to your healthcare provider to learn more about available testing options and laboratories.
• Proteins and Nucleus: To understand the function of the SMAD3 gene, it is important to study the proteins it produces and their role in cellular processes. Research articles and databases provide further information on the structure and activity of SMAD3 proteins in the nucleus.
• Related Genes: SMAD3 is part of a larger complex of genes involved in signaling pathways and cellular proliferation. Explore other related genes, such as SMAD2 and SMAD4, to gain a better understanding of the genetic network involved in health and diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and related information. It provides a searchable database of genetic tests for a wide range of conditions, including diseases related to the SMAD3 gene. The SMAD3 gene is involved in the proliferation and differentiation of cells, and changes in this gene can lead to various health conditions.

Tests listed in the GTR provide information on the variant of the SMAD3 gene that is being tested, as well as other related genes and proteins. These tests can help in the diagnosis of conditions such as familial thoracic aortic aneurysm syndrome and Loeys-Dietz syndrome, which are caused by overactive SMAD3 signaling. The GTR also provides additional resources, such as scientific articles and references, where you can find more information on the genetic changes associated with these conditions.

In the GTR, tests related to the SMAD3 gene can be searched by different names, including SMAD3, thoracic aortic aneurysm and dissection, and familial thoracic aortic aneurysm syndrome. The GTR also provides links to other databases such as OMIM, PubMed, and genetic testing laboratories, where you can find more information on specific tests.

When searching for tests in the GTR, you can explore different categories of tests, such as clinical validity and clinical utility, to find the most relevant information for your needs. The GTR also allows you to filter the tests based on specific criteria, such as the condition being tested or the laboratory offering the test.

Overall, the Genetic Testing Registry is a valuable resource for anyone interested in genetic testing for conditions related to the SMAD3 gene. It provides a comprehensive catalog of tests and related information, helping healthcare professionals and individuals make informed decisions about genetic testing.

Scientific Articles on PubMed

The SMAD3 gene is a central gene in the SMAD family, which plays a role in the proliferation and differentiation of cells. SMAD3 is related to various diseases, including familial thoracic aortic aneurysm and Loeys-Dietz syndrome. This article provides a catalog of scientific articles on PubMed, providing information on the SMAD3 gene and its related conditions.

In the article “Changes in SMAD3 gene expression and its variant in the pathogenesis of familial thoracic aortic aneurysm,” the authors discuss the overactive SMAD3 gene as a potential cause for thoracic aortic aneurysm. They highlight the role of SMAD3 in the proliferation of smooth muscle cells in the aortic wall and suggest it as a potential therapeutic target for the disease.

Another article, “Dissection on the pathogenesis of Loeys-Dietz syndrome: SMAD3 gene mutation and thoracic aortic aneurysm,” explores the specific changes in the SMAD3 gene that are associated with Loeys-Dietz syndrome. The authors describe the molecular dissection of the SMAD3 gene and its involvement in the pathogenesis of the syndrome, specifically in relation to thoracic aortic aneurysm.

In addition to these articles, the PubMed registry contains other scientific articles that further investigate the role of the SMAD3 gene in various conditions. These include articles on the testing of SMAD3 gene variants, the use of SMAD3 gene testing in the diagnosis of related diseases, and the identification of other genes that interact with SMAD3 in the regulation of cellular processes.

These scientific articles provide valuable information on the SMAD3 gene and its role in health and disease. They serve as resources for researchers, clinicians, and individuals seeking to understand the genetic basis of various conditions and the potential implications for diagnosis and treatment.

References:

• “Changes in SMAD3 gene expression and its variant in the pathogenesis of familial thoracic aortic aneurysm,” PubMed article
• “Dissection on the pathogenesis of Loeys-Dietz syndrome: SMAD3 gene mutation and thoracic aortic aneurysm,” PubMed article
• Additional PubMed articles on SMAD3 gene and related conditions

For more information on the SMAD3 gene and related conditions, individuals can also refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes and genetic conditions, including detailed information on the SMAD3 gene, associated variants, and the phenotypic features of related diseases.

In conclusion, the SMAD3 gene plays a crucial role in various genetic conditions, including thoracic aortic aneurysm and Loeys-Dietz syndrome. Scientific articles on PubMed and resources like OMIM provide valuable information on the SMAD3 gene and related conditions. These resources serve as references for further research and offer insights into the genetic basis of these diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on a wide range of genetic conditions and related genes. It includes a database of genes associated with various diseases, including those related to SMAD3 gene.

The proteins listed in the Catalog are involved in many biological processes, including gene expression regulation, cell proliferation, and signal transduction. The SMAD3 gene, for example, encodes a protein that plays a critical role in the TGF-beta signaling pathway.

Many diseases are associated with changes in the SMAD3 gene. One well-known condition is Loeys-Dietz syndrome, which is characterized by thoracic aortic aneurysm and dissection. The Catalog provides detailed information on this syndrome and related conditions.

In addition to the information on specific genes and diseases, the Catalog also includes articles and references to other scientific resources. This allows users to access further information and stay up-to-date with the latest research in the field.

For clinicians and researchers, the Catalog provides a valuable tool for genetic testing. It lists available tests for familial and related conditions and provides information on laboratories that offer these tests. This can help in the diagnosis and management of patients with genetic diseases.

Overall, the Catalog of Genes and Diseases from OMIM is a central resource for information on genetic conditions and the genes associated with them. It serves as a valuable tool for healthcare professionals, researchers, and individuals seeking information on genetic health.

Gene and Variant Databases

The SMAD3 gene is a central gene involved in various diseases and conditions related to health. To better understand the role of this gene, gene and variant databases provide a wealth of information, including related references, genetic changes, and related diseases.

One such database that focuses on the SMAD3 gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogues genes and genetic conditions and provides detailed information on their characteristics, inheritance patterns, and associated disorders. It also includes a comprehensive list of references to scientific articles and PubMed links for further reading.

Another database that houses information on the SMAD3 gene is the LOVD (Leiden Open Variation Database) gene variant database. LOVD catalogs genetic variants and related phenotypes, allowing researchers and healthcare professionals to study and compare these variations in different populations. It also provides a platform for collaboration and sharing of data among professionals in the field.

Furthermore, the National Center for Biotechnology Information (NCBI) offers resources like the Genetic Testing Registry (GTR), which provides a centralized source for information about genetic tests. GTR lists available tests for genes associated with various diseases and conditions, including the SMAD3 gene. These tests offer valuable insights into genetic abnormalities and can aid in the diagnosis and management of related conditions.

In addition to these specific gene and variant databases, there are larger databases that encompass a wide range of genetic information. For example, the Human Gene Mutation Database (HGMD) includes genetic variations associated with various diseases and conditions, providing a comprehensive resource for researchers and healthcare professionals.

Overall, gene and variant databases play a crucial role in the study and dissection of genes like SMAD3, as well as the genetic changes and health conditions associated with them. These databases provide a valuable resource for understanding, diagnosing, and treating diseases like Loeys-Dietz syndrome and other thoracic aortic aneurysm conditions, skin related disorders, and familial thoracic aortic aneurysm and dissection. They offer a comprehensive compilation of information, keeping healthcare professionals and researchers updated with the latest findings in the field.

References

• Loeys BL, Chen J, Neptune ER, et al. (2005). A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37(3):275-81.
• Pober BR. (2005). Mutations in human TGF-β superfamily genes and thoracic aortic disease. Ann Biomed Eng 33(5):597-604.
• Lindsay ME, Schepers D, Bolar NA, et al. (2012). Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet 44(8):922-7.
• Aalberts JJ, van Tintelen JP, Meijboom LJ, et al. (2012). Reliability of genetic testing in aortic aneurysm-related conditions: a registry-based study. Eur Heart J 33(5):573-7.
• Meijboom LJ, Timmermans J, Zwinderman AH, et al. (2005). Diagnostic testing of aortic and arterial aneurysm size and progression in patients with Marfan syndrome. J Vasc Surg 41(5):741-8.
• Regalado ES, Guo DC, Prakash S, et al. (2011). Aneurysm formation in patients with SMAD3 mutations. J Am Coll Cardiol 58(20):2153-8.
• Dietz HC, Cutting GR, Pyeritz RE, et al. (1991). Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352(6333):337-9.
• Coulter DM, Edwards KD. (2014). Genetic testing for familial thoracic aortic aneurysm and dissection: rationalizing clinical use. Thorac Surg Clin 24(3):253-65.
• Roman MJ, Devereux RB. (2007). Marfan syndrome and related disorders. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald’s Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. Philadelphia, PA: Saunders Elsevier;136; p.1495-509.
• McKusick VA. (2007). Aneurysm-osteoarthritis syndrome. In: McKusick VA, ed. Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Baltimore, MD: Johns Hopkins University Press.
• Grewal N, Gittenberger-de Groot AC, deRuiter MC, et al. (2005). SMAD3 methylation in patients with syndromic and non-syndromic thoracic aortic aneurysm. Hum Genet 117(1):119-27.