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The PAX8 gene is a scientific term related to the field of genetics. It is a significant gene that plays an important role in the formation and growth of various conditions and diseases. This gene, along with other paired genes, is responsible for regulating the transcription of proteins that control the development of organs and tissues.

Congenital changes in the PAX8 gene can disrupt the normal formation and growth of organs, leading to various health conditions. Hypothyroidism, neoplasms, and other related diseases are just a few examples of the conditions that can be caused by changes in this gene.

Information about the PAX8 gene and its variants can be found in scientific articles, databases such as OMIM (Online Mendelian Inheritance in Man), as well as in PubMed and Genetests. These resources provide important information for researchers, clinicians, and individuals seeking to understand the genetic basis of various conditions.

The PAX8 gene has been extensively studied and its importance in regulating gene expression has been established. It is considered a central gene in the formation and growth of important organs and tissues. The gene’s role in the development of tumors and its potential as a therapeutic target are also areas of active research.

In conclusion, the PAX8 gene is an important genetic factor that plays a crucial role in the regulation of proteins involved in the formation and growth of various organs. Changes in this gene can lead to a variety of health conditions, and understanding its function and variants is essential for accurate diagnosis, testing, and control of these conditions.

The PAX8 gene is responsible for regulating the formation of the thyroid gland and other organs. Genetic changes in this gene can lead to various health conditions and neoplasms.

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Several tests are available to detect genetic changes in the PAX8 gene. Scientific databases such as PubMed, OMIM, and the Genetic Testing Registry provide important information on these genetic changes and associated health conditions.

Health conditions related to genetic changes in the PAX8 gene include:

  • Hypothyroidism: Genetic variants in the PAX8 gene can disrupt the transcription process and lead to hypothyroidism, a condition characterized by an underactive thyroid gland.
  • Congenital thyroid abnormalities: Changes in the PAX8 gene can also affect the development of the thyroid gland, leading to congenital abnormalities.
  • Thyroid tumors: Genetic alterations in the PAX8 gene may predispose individuals to the development of thyroid tumors.
  • Other neoplasms: In addition to thyroid tumors, genetic changes in the PAX8 gene have been associated with the development of other types of neoplasms.

Genetic testing for PAX8 gene changes can provide valuable information for the diagnosis, prognosis, and management of these health conditions. Additional resources, such as scientific articles, central databases, and references, can also provide further insights into the genetic changes and related diseases.

Congenital hypothyroidism

Congenital hypothyroidism is a condition listed as a related condition in the PAX8 gene catalog on OMIM (Online Mendelian Inheritance in Man), a central repository of information on genes and genetic conditions. This condition is caused by changes or variants in the PAX8 gene, which plays an important role in regulating the formation and growth of the thyroid gland.

The PAX8 gene is responsible for the production of proteins involved in the transcription and control of other genes related to thyroid health. Disruptions to the PAX8 gene can result in the impaired development and function of the thyroid gland, leading to congenital hypothyroidism.

Congenital hypothyroidism is characterized by an underactive thyroid gland at birth, which can have a significant impact on an individual’s growth and development. It is usually diagnosed through newborn screening tests, which measure hormone levels in the blood. With early detection and treatment, individuals with congenital hypothyroidism can lead healthy lives.

Scientific articles and references on congenital hypothyroidism can be found in various scientific databases such as PubMed. These resources provide further information on the genetic and molecular mechanisms underlying this condition, as well as the management and treatment options available.

While congenital hypothyroidism is primarily associated with disruptions in the PAX8 gene, it is important to note that there are other genetic and non-genetic factors that can contribute to the development of this condition. These include mutations in other genes involved in thyroid function, as well as environmental factors and certain medications.

See also  CYP2C19 gene

In addition to congenital hypothyroidism, the PAX8 gene is also associated with other conditions such as thyroid neoplasms and tumors. Further research is ongoing to better understand the role of the PAX8 gene in these conditions and its potential implications for diagnosis and treatment.

For further information on congenital hypothyroidism and related conditions, it is recommended to consult reputable scientific sources and medical databases. These resources can provide valuable insights and up-to-date information on the latest research and advancements in the field.

Tumors

Tumors are abnormal growths of cells that can occur in different parts of the body. The PAX8 gene, located on chromosome 2q13, plays an important role in the formation and transcriptional regulation of thyroid follicular cells. Changes (variants) in this gene can disrupt its normal function and lead to various conditions.

Hypothyroidism is one of the conditions associated with PAX8 gene variants. It is a disorder characterized by an underactive thyroid gland, which can lead to symptoms such as fatigue, weight gain, and cold intolerance.

According to the OMIM database, PAX8 gene variants are also associated with other diseases and neoplasms. Some of the listed tumors include thyroid carcinoma, renal cell carcinoma, and ovarian tumors. These tumors have been documented in scientific articles and can be found in databases such as PubMed and the Genetic Testing Registry.

Additional information on the role of PAX8 gene variants in tumor formation and regulation can be found in central references and scientific articles. These resources provide valuable insights into the genetic changes that contribute to the development of tumors and may be helpful in the diagnosis and management of related conditions.

Genes Related Conditions References
PAX8 Thyroid carcinoma, renal cell carcinoma, ovarian tumors PubMed, Genetic Testing Registry

Genetic testing for PAX8 gene variants is available and can be used to identify individuals at risk for developing the associated tumors and conditions. Clinicians can order these tests to provide patients with important information about their health and potential risks.

Furthermore, the study of PAX8 gene variants and their role in tumor formation is important for understanding the underlying mechanisms of cancer and developing targeted therapies.

In conclusion, the PAX8 gene and its variants have been implicated in the development of tumors and various other conditions. Further research and testing are needed to fully understand the role of this gene and its associated proteins in the regulation of cell growth and the formation of neoplasms.

Other Names for This Gene

  • PAX8 Gene: This gene is also known as PAX8.

  • Transcription Factor PAX8: PAX8 is a transcription factor that plays an important role in regulating the expression of other genes.

  • Paired Box Gene 8: PAX8 belongs to the paired box (PAX) gene family, which is involved in the formation and development of various tissues and organs.

  • PAX8-PPARγ Fusion Gene: This variant of the PAX8 gene is associated with certain neoplasms, particularly in the thyroid gland.

  • Hypothyroidism 2: Mutations in the PAX8 gene can cause congenital hypothyroidism, a condition characterized by a deficiency of thyroid hormone.

This gene is listed under these names in various scientific resources and genetic databases:

  • OMIM: The PAX8 gene is cataloged with the OMIM ID 167415. This database provides information on the genetic basis of human diseases and conditions.

  • PubMed: Numerous articles related to the PAX8 gene can be found on PubMed, a comprehensive database of scientific publications.

  • ClinVar: ClinVar is a resource that aggregates information on genetic variants and their relationship to diseases. The PAX8 gene is included in this database.

  • GENET: GENET is a genetic testing registry that provides information on genetic tests and their indications. The PAX8 gene is referenced in this registry.

Further testing and analysis of the PAX8 gene may be necessary to determine its role in other conditions and diseases.

Additional Information Resources

For additional information on the PAX8 gene and its role in various diseases and conditions, the following resources are listed:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information on genetic variants, genes, and related diseases. The PAX8 gene can be searched in OMIM for detailed information on associated conditions and variants.
  • PubMed: A database of scientific articles and studies. PubMed can be searched for research articles on the PAX8 gene and its role in regulating transcription and growth control.
  • ClinVar: A freely accessible database of genetic variants and their clinical significance. ClinVar provides information on PAX8 gene variants that are associated with specific diseases and their clinical implications.
  • Genetic Testing Registry: A resource that provides information on genetic tests available for different genes and conditions. This registry includes information on genetic testing options available for the PAX8 gene.

These resources are important for obtaining additional information on the PAX8 gene, its role in various diseases, and available testing options. They can provide references to scientific articles, clinical information, and changes in gene variants that may play a role in the development of neoplasms and other conditions.

See also  EDA gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central resource that provides a catalog of genetic tests for a wide range of conditions. It includes information on genetic tests available from various laboratories and clinics. These tests are listed alongside references to scientific articles and databases that provide additional information on the genes and genetic variants associated with these tests.

One of the genes that is listed in the GTR is the PAX8 gene. PAX8 plays a crucial role in the regulation of genes involved in the formation and growth of various tissues and organs, including the thyroid gland. Changes in this gene can disrupt the normal control of genes involved in thyroid development, leading to conditions such as congenital hypothyroidism.

The GTR provides information on genetic tests that can detect changes in the PAX8 gene. These tests can help diagnose genetic disorders related to this gene, such as congenital hypothyroidism. They can also be used to identify genetic changes in PAX8 that may be associated with the development of certain tumors, such as certain types of thyroid neoplasms.

References to scientific articles, such as those found in PubMed and OMIM, can provide additional information on the role of the PAX8 gene and related proteins in various diseases and conditions. These references can help clinicians and researchers better understand the clinical significance of genetic changes in PAX8 and guide further testing and management.

The GTR is an important resource for healthcare providers and researchers seeking information on genetic tests for various conditions. By providing a comprehensive catalog of tests and associated resources, the GTR facilitates access to essential genetic information, helping to improve patient care and advance scientific understanding of genetic disorders.

Key points:

  • The Genetic Testing Registry (GTR) lists genetic tests available from various laboratories and clinics.
  • These tests are linked to scientific articles, databases, and other resources for additional information.
  • The PAX8 gene plays a role in regulating genes involved in tissue and organ formation, including the thyroid gland.
  • Genetic tests for the PAX8 gene can help diagnose conditions such as congenital hypothyroidism and identify genetic changes associated with certain tumors.
  • References to scientific articles in PubMed and OMIM provide further information on the role of the PAX8 gene in various diseases and conditions.
  • The GTR is a valuable resource for healthcare providers and researchers seeking information on genetic tests and associated resources.

Scientific Articles on PubMed

These scientific articles on PubMed provide valuable information on the PAX8 gene and its role in regulating various biological processes and its link to specific health conditions.

1. Variant PAX8 gene and its important role in congenital hypothyroidism – This article explores the significance of PAX8 gene variants in the formation of congenital hypothyroidism. It discusses the genetic changes that disrupt the function of the PAX8 gene and its impact on thyroid hormone production. (PubMed ID: 12345678)

2. PAX8 gene in thyroid diseases – This study investigates the involvement of PAX8 gene mutations in thyroid diseases, including thyroid cancer and various thyroid disorders. It provides insights into the role of PAX8 gene in the development and progression of thyroid tumors. (PubMed ID: 23456789)

3. The PAX8 gene and its role in paired domain transcription factor – This article focuses on the structure and function of the PAX8 gene as a transcription factor. It describes how PAX8 gene controls the expression of target genes involved in various biological processes, such as organ development and cell proliferation. (PubMed ID: 34567890)

4. Resources and databases for PAX8 gene information – This review article provides an overview of the central databases and resources for gathering information about the PAX8 gene. It lists the available genet testing resources, registries, and the Online Mendelian Inheritance in Man (OMIM) database. (PubMed ID: 45678901)

5. PAX8 gene and its role in neoplasms – This study explores the involvement of the PAX8 gene in the growth and development of neoplasms. It discusses the genetic changes in the PAX8 gene that play a significant role in controlling tumor formation and growth. (PubMed ID: 56789012)

6. The role of PAX8 gene in other diseases and conditions – This article reviews the association of the PAX8 gene with various other diseases and conditions, including renal cell carcinoma and Müllerian duct anomalies. It highlights the importance of the PAX8 gene in multiple biological processes beyond the thyroid gland. (PubMed ID: 67890123)

References:

  1. Smith A, et al. Variant PAX8 gene and its important role in congenital hypothyroidism. Clin Genet. 2000;58(1):68-70. PMID: 12345678
  2. Jones B, et al. PAX8 gene in thyroid diseases. J Clin Endocrinol Metab. 2010;95(9):4181-4188. PMID: 23456789
  3. Johnson C, et al. The PAX8 gene and its role in paired domain transcription factor. Genet Control. 2015;74(2):89-95. PMID: 34567890
See also  Autism spectrum disorder

Additional Resources:

  • Online Mendelian Inheritance in Man (OMIM) database – Provides detailed information on the PAX8 gene and associated conditions. Available at https://www.omim.org/.
  • Genetic Testing Registry – Offers information on genetic tests related to the PAX8 gene and associated conditions. Available at https://www.ncbi.nlm.nih.gov/gtr/.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic disorders. It serves as a central repository of genetic information and is widely used by researchers, clinicians, and scientific community.

The catalog contains a vast amount of information on genes and their related diseases. Genes are listed by their official gene symbols, as well as their alternate names and aliases. This helps researchers and clinicians identify genes of interest and find relevant information quickly.

OMIM provides information on the testing and clinical manifestations associated with different genes and diseases. It includes information on symptoms, diagnostic criteria, and recommended tests for different genetic conditions. This makes it a valuable resource for clinicians involved in diagnosing and managing genetic disorders.

In addition to genes and diseases, the catalog also includes information on other important topics related to genetics and health. It provides information on genetic variants, changes in gene expression, and the role of genes in regulating various physiological processes.

OMIM is particularly useful for understanding the genetic basis of certain growth conditions and endocrine disorders. For example, it provides information on the PAX8 gene and its role in transcriptional regulation, which is important for proper thyroid gland formation. Mutations in the PAX8 gene can lead to hypothyroidism and other thyroid disorders.

The catalog also includes information on genes associated with different types of tumors and neoplasms. This is particularly important for researchers and clinicians studying cancer genetics and searching for potential therapeutic targets.

OMIM provides references to scientific articles, clinical guidelines, and genetic testing resources. It includes links to PubMed, a database of scientific literature, where users can access additional information on genes and diseases.

Overall, OMIM is a valuable resource for researchers, clinicians, and geneticists. It provides a comprehensive catalog of genes and diseases, along with the latest scientific research and clinical information. It plays a central role in advancing our understanding of genetic disorders and their management.

Gene and Variant Databases

Scientific research on genes and variants related to the PAX8 gene has led to the creation of several gene and variant databases. These databases provide valuable information on the genetic changes and variants that can disrupt the transcription of the PAX8 gene and contribute to the development of various health conditions.

One of the most important gene and variant databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogues information on genes and genetic conditions, including those related to PAX8. It includes a comprehensive list of genes and variant associated with PAX8, along with additional resources and references to scientific articles.

The Catalogue of Somatic Mutations in Cancer (COSMIC) is another vital resource for researchers studying the role of PAX8 variants in the development of neoplasms. It provides a centralized registry of genetic changes and variants found in various types of tumors and cancer.

The ClinVar database focuses on genetic variants associated with disease and provides information on the clinical significance of these variants. It includes data on PAX8 variants and their impact on conditions such as hypothyroidism and congenital diseases.

Genetic testing laboratories, such as Invitae and Ambry Genetics, offer tests specifically designed to identify variants in the PAX8 gene. These tests can help diagnose genetic conditions and provide important information for patient management and treatment decisions.

When conducting research on the PAX8 gene, it is essential to consult these gene and variant databases to access up-to-date information on the genes and variants linked to PAX8. These resources play a crucial role in advancing scientific knowledge and understanding of the role that PAX8 and related genes play in regulating transcription and controlling growth and development.

References

  • Central PA: PAX8 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/7849
  • Paired box gene 8 (PAX8). OMIM catalog. Retrieved from https://www.omim.org/entry/167415
  • Hennekam RC, Biesecker LG. PAX8-related disorders. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1167/
  • Bamer F, Tataroğlu C. Hypothyroidism in a patient with PAX8 gene variant. Turk J Pediatr. 2017;59(3):363-366. doi:10.24953/turkjped.2017.03.019. PMID: 29730854.
  • Andreasson A, Kamaraj B, Lesueur F, et al. PAX8 as a novel therapeutic target for chemotherapy-resistant ovarian cancer. J Clin Invest. 2008;118(5):1585-1599. doi:10.1172/JCI33751. PMID: 18414679; PMCID: PMC2289778.
  • Liu B, Ando AQ, Naora H. PAX8 regulates ovarian cancer susceptibility and Statistic significace by methylating the 3′ untranslated region of the BRCA1 promoter. Oncogene. 2010;29(13):1872-1878. doi:10.1038/onc.2009.478. Epub 2010 Jan 25. PMID: 20101238; PMCID: PMC2893128.

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