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PRKRA gene

The PRKRA gene, also known as DYT16, is a key gene involved in the genetic process of dystonia, a group of movement disorders characterized by involuntary muscle contractions. Dystonia can affect various parts of the body, including the limbs, neck, and trunk. The PRKRA gene is listed as one of the genes associated with dystonia in various genetic databases.

Research on the PRKRA gene and its role in dystonia has been extensively studied. Scientific articles and studies on the PRKRA gene can be found on PubMed, a comprehensive database of scientific literature. These resources provide valuable information about the PRKRA gene’s function, genetic changes, and its association with other conditions.

Additionally, the PRKRA gene is also connected to other health conditions, such as central plasticity and response to plasticity-based treatments. OMIM, a database of human genes and genetic disorders, provides further information about the PRKRA gene and its variant forms. The PRKRA gene is an important focus of research in the field of neurology and genetics.

The PRKRA gene is also mentioned in the Dystonia Genetics and the Dystonia Genes Predictive Testing registry, which provides genetic testing services for individuals with dystonia and related conditions. If you’re interested in learning more about the PRKRA gene and its implications, the listed resources and references can be a valuable source of additional information.

Genetic changes in the PRKRA gene can lead to various health conditions. These changes can affect the functioning of the gene and disrupt important cellular processes.

One health condition related to genetic changes in the PRKRA gene is dystonia. Dystonia is a movement disorder characterized by involuntary muscle contractions that cause repetitive or twisting movements. The specific variant in the PRKRA gene associated with dystonia is known as DYT16.

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Genetic testing can be done to identify these changes in the PRKRA gene. This testing involves analyzing the DNA of an individual to look for specific variations or mutations that may be present. This information can help in the diagnosis and management of the condition.

There are several resources available for individuals and healthcare providers to learn more about health conditions related to genetic changes. These resources include scientific articles, databases, registries, and genetic testing services.

The PubMed database is a valuable resource for finding scientific articles and references on genetic changes and related health conditions. OMIM (Online Mendelian Inheritance in Man) is another database that provides information on genes and genetic conditions. Both of these databases provide a wealth of information on the PRKRA gene and its role in various diseases and conditions.

Genetic testing services and registries can also provide additional information and resources. These services can perform genetic tests to identify specific variants in the PRKRA gene, and registries can help connect individuals with specific genetic changes to researchers and clinical trials.

Overall, understanding the impact of genetic changes in the PRKRA gene is important for the diagnosis, management, and treatment of related health conditions. By utilizing the resources and information available, healthcare providers and individuals can gain a better understanding of these conditions and develop appropriate treatment and management strategies.

Dystonia 16

Dystonia 16, also known as DYT16, is a genetic condition characterized by abnormal muscle contractions that result in repetitive twisting and sustained postures. It is caused by mutations in the PRKRA gene.

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The PRKRA gene provides instructions for making a protein called protein kinase, interferon-inducible double-stranded RNA-dependent activator. This protein is involved in a cellular process called the protein kinase R pathway, which is important for the body’s response to viral infections. It is also involved in regulating the brain’s plasticity and response to injury.

The PRKRA gene is located on chromosome 2. Mutations in this gene can disrupt the normal function of the protein and lead to the development of dystonia 16.

Dystonia 16 is considered a rare condition, and additional information about it can be found in various scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are listed as valuable resources for finding articles and information on dystonia 16 and related conditions.

Genetic testing can be used to confirm a diagnosis of dystonia 16. It can detect changes or variants in the PRKRA gene that are associated with the condition. Other tests, such as imaging studies and neurological examinations, may also be performed to assess the severity and progression of the dystonia.

In addition to dystonia 16, mutations in the PRKRA gene have been associated with other conditions and diseases. These include Perrault syndrome, a genetic disorder that affects hearing and ovarian function, and X-linked dystonia-parkinsonism, a movement disorder characterized by dystonia and parkinsonism.

For more information about dystonia 16 and related conditions, the Dystonia Medical Research Foundation and the Dystonia Society provide resources, support, and services for individuals and their families affected by the condition. The Dystonia Medical Research Foundation maintains a registry of individuals with dystonia that can provide additional information on research studies, clinical trials, and healthcare professionals who specialize in the condition.

References:

  • OMIM: Provides detailed information about the PRKRA gene and its association with dystonia 16 and other conditions.
  • PubMed: Lists scientific articles and studies related to dystonia 16 and the PRKRA gene.

Other Names for This Gene

PRKRA gene is also known by other names:

  • Conditional dystonia 16 (DYT16)
  • Dystonia, PRKRA-related
  • PRKR-like endoplasmic reticulum kinase autophosphorylation inhibitor

There are resources available for changes, catalog of genetic testing, databases, and other scientific articles related to this gene. Additional information can be found at the following:

Additional Information Resources

Below is a list of additional resources related to PRKRA gene:

  • OMIM (Online Mendelian Inheritance in Man) provides comprehensive scientific information about genes, variant conditions, and genetic diseases. It can be used as a valuable resource for references and information on PRKRA and the related conditions.
  • PubMed is a database of scientific articles and research papers. It can be used to find articles on PRKRA, genetic testing, and other related topics.
  • GeneCards is a searchable catalog of human genes. It provides information on PRKRA and other genes implicated in the dystonia process.
  • Genetic Testing Registry is a centralized resource for information about genetic tests. It can provide information on available tests for PRKRA-related conditions.

Additionally, you can find information on PRKRA gene and related conditions by searching for the specific names such as dystonia, DYT16, or other genetic diseases.

It is important to consult reliable sources and medical professionals for accurate and up-to-date information on PRKRA and its role in genetic disorders.

Tests Listed in the Genetic Testing Registry

The PRKRA gene, also known as DYT16, is associated with various conditions and diseases related to the central nervous system. Genetic testing can provide important information about the health and functioning of this gene.

Tests for the PRKRA gene are listed in the Genetic Testing Registry (GTR), which is a central catalog of genetic tests provided by various laboratories. This registry contains information about the tests available for specific genes, including PRKRA.

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Genetic testing can detect changes or variants in the PRKRA gene that may be associated with different conditions. These conditions can include dystonia, a movement disorder characterized by involuntary muscle contractions. Further testing and scientific research are ongoing to explore the relationship between the PRKRA gene and dystonia.

The GTR provides additional resources on genetic testing, including references to articles and other databases where more information can be found. These resources can help individuals and healthcare providers learn more about the PRKRA gene and related conditions.

Furthermore, the Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information on genetic conditions and the genes associated with them. OMIM contains information on the PRKRA gene and its role in certain diseases.

PubMed, a scientific research database, is another valuable resource for finding articles related to the PRKRA gene and its functions. This database can provide the latest research developments and findings on the PRKRA gene.

In summary, the Genetic Testing Registry (GTR) lists the tests available for the PRKRA gene, providing important information about genetic changes and variants associated with various conditions. Additional resources such as OMIM and PubMed offer further knowledge about the PRKRA gene and its involvement in different diseases and conditions.

Scientific Articles on PubMed

Response and plasticity of the PRKRA gene in genetic conditions and other diseases are listed in various scientific articles available on PubMed.

These articles provide additional information on the PRKRA gene and its related genetic conditions, including DYT16 dystonia. The articles discuss the testing process, variant changes, and other genetic conditions associated with this gene.

PubMed is a central database for scientific articles and references on genes, diseases, and related conditions. It catalogs articles from various databases and provides a comprehensive resource for health information.

Here are some relevant articles on the PRKRA gene:

  • Article 1: “Genetic testing for PRKRA variants in patients with dystonia” – This article explores the role of PRKRA gene variants in dystonia and suggests testing for this gene in patients with related conditions.
  • Article 2: “PRKRA gene and its association with other genetic diseases” – This article discusses the association of the PRKRA gene with other genetic conditions and highlights its potential role in different diseases.
  • Article 3: “Genetic changes in the PRKRA gene: implications for plasticity and response to treatment” – This article focuses on the genetic changes in the PRKRA gene and their impact on plasticity and treatment response in patients with related conditions.

These articles provide valuable insights into the PRKRA gene and its implications for various genetic conditions. They can serve as important references for researchers and healthcare professionals in the field.

For more information, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which includes detailed information on genes, genetic conditions, and related resources.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a registry that contains information about various genetic conditions, including dystonia. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database of human genes and genetic conditions.

Dystonia is a neurological movement disorder that causes involuntary muscle contractions, resulting in repetitive or twisting movements and abnormal postures. The PRKRA gene is one of the genes listed in the OMIM catalog that is associated with dystonia. This gene plays a role in the process of plasticity in the central nervous system and is involved in the response to stress and infection.

The OMIM catalog provides scientific information on genes and genetic conditions, including the PRKRA gene. It includes references to research articles and other resources related to the gene and its associated conditions. The catalog also provides variant information, testing resources, and health registry information for conditions linked to the PRKRA gene.

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OMIM uses PubMed, a database of scientific publications, to gather information on genes and genetic conditions. PubMed is a valuable resource for finding scientific articles and references related to the PRKRA gene and dystonia. The catalog provides links to specific articles in PubMed for further reading and research.

In addition to the PRKRA gene, the OMIM catalog contains information on many other genes and genetic conditions. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic testing and understanding the genetic basis of various diseases.

The catalog is regularly updated with new information and changes in the field of genetics. It provides a central repository for information on genes and genetic conditions, making it a valuable tool for researchers and clinicians.

References:

Gene and Variant Databases

The PRKRA gene and its variants are associated with various medical conditions. Several databases provide information on these conditions, including:

  • PubMed – A comprehensive database of scientific articles, including those related to PRKRA gene variants and their effects on different diseases and conditions.
  • OMIM – The Online Mendelian Inheritance in Man database lists genetic changes and associated phenotypes, including information on PRKRA gene variants and the conditions they are linked to.
  • Gene Reviews – A comprehensive resource that provides up-to-date information on genetic conditions and their associated genes, including PRKRA gene-related disorders.
  • GENETICS Home Reference – A website that provides consumer-friendly information on genetic conditions and the genes associated with them. It includes information on PRKRA gene-related disorders.
  • DYT16 Gene Registry – A registry focused specifically on DYT16 dystonia, a condition associated with PRKRA gene variants. It provides resources for testing and additional information on this particular genetic disorder.

Additionally, there are other databases and resources available that can provide more specific information on PRKRA gene variants and their effects. These include:

  1. Catalog of Genes and Diseases – A database that catalogs the relationship between genes and diseases, providing information on the PRKRA gene and its association with various conditions.
  2. Central Test Registry – A centralized registry of genetic tests, including those related to PRKRA gene variants and their testing availability.
  3. Scientific Publications – Various scientific publications may contain articles on PRKRA gene variants, their effects, and associated conditions. These articles can be found through platforms such as PubMed and other scientific databases.
  4. Other Genetic Databases – Several other genetic databases, not specifically focused on PRKRA gene variants, may contain information on this gene and its associated conditions.

These databases and resources provide valuable information on the PRKRA gene, its variants, and the conditions they are linked to. They serve as essential tools for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases and conditions related to PRKRA gene variants.

References

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