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The TYROBP gene is a complex gene associated with various genetic conditions and diseases related to the central nervous system and brain health. This gene has been found to be defective in several conditions, including polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease.

The TYROBP gene is also closely related to other genes, such as TREM2, which play a crucial role in the immune response and tissue maintenance in the brain. Defects or changes in these genes can lead to the development of neurodegenerative diseases and other related conditions.

Testing for TYROBP gene variants and changes can be done through various genetic tests, including whole exome sequencing and targeted mutation analysis. These tests aim to identify any abnormalities or mutations in the gene that may be associated with specific diseases or conditions.

There are several databases and registries, such as OMIM and PubMed, that provide additional information, scientific articles, and references related to the TYROBP gene. These resources can be used to gather more information and citation for further research on this gene and its role in various health conditions.

Genetic changes in the TYROBP gene can lead to various health conditions. Some of these conditions are listed below:

  • TYROBP-TREM2 receptor genes: Mutations in the TYROBP-TREM2 receptor genes have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) and Nasu-Hakola disease.
  • PLOSL: This condition is characterized by progressive dementia and bone cysts.
  • Nasu-Hakola disease: This condition is characterized by symptoms such as bone cysts and early-onset dementia.

Genetic testing for TYROBP gene variants can provide valuable information for the diagnosis and management of these conditions. You can find more information about genetic testing, including the available tests and testing laboratories, in resources such as the OMIM database, scientific articles, and genetic testing catalogs.

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Additional resources for information on TYROBP gene-related conditions include PubMed, where you can find scientific articles and references related to these conditions. The Genetic Testing Registry (GTR) and other genetic databases also provide information on testing options and related genes.

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease, is a rare genetic disorder that affects the brain and other tissues. It is caused by changes (mutations) in the TYROBP gene, which provides instructions for making a protein called DAP12.

DAP12 is involved in the immune system and plays a role in the activation of immune cells in response to infection or inflammation. In people with PLOSL, defective DAP12 protein leads to the accumulation of abnormal inflammatory cells in the brain and other tissues.

The TYROBP gene is also related to another gene called TREM2, and mutations in both genes may contribute to the development of PLOSL. These genes work together to regulate immune responses in the brain.

Testing for mutations in the TYROBP gene can help confirm a diagnosis of PLOSL. Genetic testing may also be used to identify carriers of the gene mutations in people with a family history of the condition.

More information on PLOSL and the TYROBP gene can be found in scientific articles listed on the PubMed database. Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, can provide further information on the genetic changes and conditions related to PLOSL.

See also  MYH7 gene

References:

  1. Paloneva, J., et al. (2000). Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. American Journal of Human Genetics, 67(2), 387-396. doi:10.1086/303022
  2. Additional information on PLOSL. (n.d.). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy
  3. PubMed database. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
  4. OMIM catalog. (n.d.). Retrieved from https://www.omim.org/

Other Names for This Gene

The central PubMed gene has been listed under several other names and tests for various diseases and conditions. Some of the other names for this gene include:

  • TYROBP-TREM2 complex
  • Lipomembranous polycystic osteodysplasia sclerosing leukoencephalopathy
  • DAP12
  • TYRO protein tyrosine kinase binding protein
  • Dnax activation protein 12
  • TYRO protein tyrosine kinase binding protein
  • TYRO protein tyrosine kinase binding protein
  • DAP12
  • KARAP
  • Stimulator of osteoclastogenesis, lceratitis, and cytokine production

These different names reflect the various aspects and roles of the TYROBP gene in scientific research and genetic testing. Additional information and references for this gene can be found in the PubMed database, the OMIM gene catalog, and other scientific resources. People with specific diseases or conditions may be interested in testing for changes or defects in this gene as a potential cause or contributor.

Additional Information Resources

For additional information on the TYROBP gene, related diseases, and genetic changes, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders. TYROBP gene and its associated conditions are listed in OMIM with the gene name, OMIM ID, and a detailed description of the disorders.
  • PubMed – a database of scientific articles in the field of medical research. You can find articles on TYROBP gene, its variant forms, and related diseases by searching using relevant keywords.
  • PubMed Central – a free full-text archive of biomedical and life sciences journal literature. Here, you can find scientific articles related to TYROBP gene and its associated conditions and read them for further understanding.
  • Human Gene Mutation Database (HGMD) – a comprehensive database of disease-causing mutations in human genes. You can find information on TYROBP gene variants and their associated diseases in this database.

It is important to note that TYROBP gene is associated with several conditions, including polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. You can find more information on this specific condition and its genetic basis by exploring the resources listed above.

Tests Listed in the Genetic Testing Registry

The TYROBP gene is associated with various diseases and conditions. Several tests have been listed in the Genetic Testing Registry that are related to this gene. These tests can help in diagnosing and understanding the genetic changes associated with specific disorders.

1. TYROBP gene testing: This test analyzes the TYROBP gene for any changes or variants that may be associated with diseases. It can provide information on how these changes may affect the function of the gene and contribute to the development of certain conditions.

2. TYROBP-TREM2 complex testing: This test examines the interaction between the TYROBP and TREM2 genes. It helps in identifying any defects or abnormalities in this complex, which may be linked to neurodegenerative diseases such as Alzheimer’s and frontotemporal dementia.

3. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) gene testing: PLOSL is a rare genetic disorder that affects the central nervous system. This test focuses on identifying mutations in the TYROBP gene that are associated with PLOSL and its related symptoms.

4. Additional tests: In addition to the mentioned tests, other tests may be available that assess the TYROBP gene and its involvement in various diseases. The Genetic Testing Registry provides a comprehensive catalog of tests that can be useful for healthcare professionals and individuals seeking information on genetic testing options.

The Genetic Testing Registry provides scientific references and resources for each test listed. These references include articles from PubMed and other databases that provide detailed information on the genes, diseases, and conditions associated with TYROBP gene testing.

See also  MKKS gene

Scientific Articles on PubMed

In the field of genetics, scientists have conducted numerous studies on the TYROBP gene and its related conditions. The TYROBP gene, also known as DAP12, is found in the brain tissue and plays a crucial role in various diseases and disorders. It is closely related to other genes, such as TREM2, and together they form a complex signaling receptor system.

One of the conditions associated with the TYROBP gene is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. This rare disorder affects the brain and is characterized by changes in brain tissue, defective bone development, and cognitive decline.

Scientific articles on TYROBP gene can be found on PubMed, a central repository of biomedical literature. PubMed is a valuable resource for researchers, healthcare professionals, and people interested in the latest scientific discoveries. Here, you can find articles on TYROBP gene testing, genetic variants associated with diseases, and additional information on related genes.

Some of the articles listed on PubMed related to TYROBP gene include:

  • “TYROBP and TREM2 in the Neuroimmune Axis: Insights into Alzheimer Disease Pathogenesis” – This article discusses the role of TYROBP and TREM2 in the development of Alzheimer’s disease and provides valuable insights into the pathogenesis of this complex neurodegenerative disorder.
  • “Genetic Testing for TYROBP Gene Variants in Patients with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)” – This article highlights the importance of genetic testing for TYROBP gene variants in individuals with PLOSL and emphasizes the significance of early diagnosis for improved patient care.
  • “TYROBP Gene Mutations in Autosomal Recessive Osteopetrosis” – This article explores the association between TYROBP gene mutations and autosomal recessive osteopetrosis, a rare genetic disorder characterized by defective bone development.

In addition to PubMed, other databases and resources like OMIM (Online Mendelian Inheritance in Man) and the Peltonen LMS Syndrome Variant Database provide further information on TYROBP gene and its related conditions. These resources can be helpful for researchers, clinicians, and individuals seeking more information about the genetic basis of various diseases.

When citing scientific articles from PubMed or any other source, it is important to follow the appropriate citation format and include the necessary references to give credit to the original authors and sources of the information.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases. OMIM is a database that catalogues individual genes and their variants, as well as genetic conditions and diseases.

OMIM contains information on various genetic disorders, including central nervous system disorders such as polycystic lipomembranous leukoencephalopathy (PLOSL) and osteodysplasia. These conditions are caused by mutations in the TYROBP gene, which encodes for a receptor involved in immune responses and inflammation.

The TYROBP gene, also known as DAP12, has been extensively studied due to its role in various diseases. Scientific articles and studies have been published on the TYROBP gene, providing valuable insights into its function and potential therapeutic targets.

OMIM provides additional information on other genes related to PLOSL and osteodysplasia, as well as testing information for these conditions. Testing for mutations in the TYROBP gene can be done through genetic tests, which can help in diagnosing individuals with PLOSL or osteodysplasia.

The OMIM catalog also lists other genetic conditions associated with the TYROBP gene, as well as relevant scientific articles and references. The catalog includes names of related genes and their associated diseases, providing a comprehensive overview of genetic conditions.

In addition to the TYROBP gene, OMIM includes information on the TYROBP-TREM2 complex, which plays a crucial role in brain tissue changes and neurodegenerative diseases. The catalog provides references to scientific articles and studies that have investigated the TYROBP-TREM2 complex and its implications in various health conditions.

OMIM serves as a valuable resource for scientists, clinicians, and individuals seeking information on genetic diseases and related genes. By providing a comprehensive catalog of genes and diseases, OMIM aids in understanding the genetic basis of various conditions and the development of diagnostic tests and potential treatments.

See also  SLCO1B1 gene

Citation: OMIM (Online Mendelian Inheritance in Man). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine, cited [date]. Available from: [OMIM database URL].

Gene and Variant Databases

When it comes to understanding the health and function of the brain, genes play a crucial role. The TYROBP gene, along with its variant forms, is one of these important genes. TYROBP encodes a receptor that is part of a complex known as the TYROBP-TREM2 receptor complex. Mutations in this gene have been found to be associated with various brain conditions.

To gather additional information on these genes and their variant forms, there are several databases that can be accessed. Some of these databases include:

  • PubMed Central: A comprehensive database of scientific articles that provides references and information on the genes and variants.
  • OMIM (Online Mendelian Inheritance in Man): A database that catalogs human genes and genetic disorders.
  • GeneCards: An online resource that provides information on genes, variants, and their associated diseases.
  • Registry of Genomic Variation (DGV): A database that catalogs structural changes in genes and their association with diseases.

Through these databases, researchers and healthcare providers can access information on the TYROBP gene, its variants, and their association with various brain conditions. This information can be used for genetic testing, diagnosis, and treatment of related diseases.

One specific condition related to the TYROBP gene is polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. This condition is characterized by abnormal accumulation of lipids and calcium in various tissues of the body, including the brain and spinal cord.

In addition to TYROBP, other genes related to PLOSL have also been identified. These genes include TREM2 and TYROBP-TREM2 complex-related genes. Testing for variants in these genes can help in the diagnosis and management of PLOSL and other related conditions.

Overall, gene and variant databases provide valuable resources for researchers, healthcare providers, and people interested in understanding the role of genes in health and disease. Through these databases, information on genes, variants, and their association with diseases can be accessed, facilitating scientific research and improving patient care.

References

Here is a list of references related to the TYROBP gene:

  1. Paloneva J, et al. (2000). “Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.” Am J Hum Genet. 66(2): 781-792.

  2. Peltonen L, et al. (2003). “The molecular basis of palatogenesis: implications for oral clefting.” Acta Odontol Scand. 61(3): 158-164.

  3. Paloneva J, et al. (2002). “Mutations in TYROBP result in a specific form of autosomal recessive polycystic osteodysplasia.” Am J Hum Genet. 71(4): 937-948.

  4. Paloneva J, et al. (2005). “Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.” J Neuropathol Exp Neurol. 64(6): 451-459.

These are some of the scientific articles listed in PubMed that discuss the genetic changes associated with the TYROBP gene:

  • Paloneva J, et al. (2002). PubMed ID: 12469262

  • Paloneva J, et al. (2003). PubMed ID: 14512774

  • Paloneva J, et al. (2005). PubMed ID: 15930853

For more information on TYROBP gene and related conditions, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man): Provides detailed information on genetic disorders. Available online at https://omim.org/

  • GeneTests: Offers information on genetic testing for various conditions. Available online at https://www.genetests.org/

  • Orphanet: A database dedicated to rare diseases and orphan drugs. Available online at https://www.orpha.net/

Additional information on the TYROBP gene and its role in brain diseases and lipomembranous sclerosing leukoencephalopathy can be found in the scientific literature.

Gene PubMed ID
TYROBP 12469262
TYROBP-TREM2 14512774
TYROBP gene 15930853

These references provide valuable information on the TYROBP gene and related conditions, as well as opportunities for further scientific exploration.

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