The VRK1 gene is a genetic variant that is associated with several neurological disorders, including pontocerebellar hypoplasia. It is thought to play a role in the development and function of cells in the nervous system.

Research on the VRK1 gene has been extensively documented in scientific articles and referenced in health-related databases such as PubMed. Additional information on this gene can be found in resources such as OMIM, a catalog of human genes and genetic disorders.

VRK1 is involved in the assembly and regulation of the nuclear envelope, as well as other complex functions within cells. Changes in the VRK1 gene have been found to be associated with various disorders and conditions affecting the nervous system.

Testing for genetic variants in the VRK1 gene may be available through specialized testing laboratories or genetic testing organizations. This testing can provide valuable information for individuals and families affected by related disorders.

References:

  • PubMed – Scientific articles
  • OMIM – Catalog of genetic disorders
  • Other health-related databases

Genetic changes in the VRK1 gene have been found to be associated with various health conditions and disorders. These changes can be detected through genetic tests and can help in the diagnosis and management of these disorders.

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Some of the disorders related to genetic changes in the VRK1 gene include:

  • Pontocerebellar hypoplasia
  • Changes in the organization and assembly of the nuclear envelope
  • Regulation of cellular functions

These disorders are complex and can exhibit a range of symptoms and severity. Understanding the genetic changes in the VRK1 gene can provide valuable information for scientific research and clinical testing.

Health professionals and researchers can access databases and resources containing information on these disorders and the genes involved. Some of the well-known databases include OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide references to scientific articles and publications related to genetic changes and disorders.

Furthermore, there are additional resources available, such as the Lazo Registry, which lists information on various genetic conditions and offers testing services.

It is important to note that VRK1 is not the only gene implicated in these conditions. Several other genes may also play a role in the development and progression of these disorders. Studying these genes and their functions can provide a better understanding of the underlying mechanisms and potential treatment options.

In conclusion, genetic changes in the VRK1 gene are associated with various health conditions and disorders. Accessing information from databases, scientific articles, and testing resources can aid in the diagnosis, management, and research of these conditions.

Pontocerebellar hypoplasia

Pontocerebellar hypoplasia is a group of disorders that are caused by mutations in different genes. These genes are involved in the development and function of nerve cells in the brain. The conditions listed under pontocerebellar hypoplasia can cause various changes in the structure and function of the brain.

One gene that is associated with pontocerebellar hypoplasia is the VRK1 gene. Changes in this gene can disrupt its normal function, leading to the development of the disorder. Scientific articles and resources, such as the OMIM database and PubMed, contain additional information on the VRK1 gene and its role in pontocerebellar hypoplasia.

The VRK1 gene regulates the assembly and organization of the envelope around the nucleus of cells. Mutations in this gene can disrupt this process, leading to changes in the structure and function of nerve cells in the brain.

Testing for mutations in the VRK1 gene can help with the diagnosis of pontocerebellar hypoplasia. Genetic tests can identify changes in the gene that are associated with the disorder. These tests can be performed by healthcare professionals who specialize in genetic disorders.

See also  Dubin-Johnson syndrome

Pontocerebellar hypoplasia is a complex disorder, and there are several different subtypes that have been identified. Each subtype is associated with specific genetic changes and can cause a range of symptoms.

The Pontocerebellar Hypoplasia Registry is a resource that collects information on individuals with pontocerebellar hypoplasia. It provides a platform for researchers and healthcare professionals to share information and collaborate on research and treatment for the disorder.

It is thought that pontocerebellar hypoplasia is a rare disorder, but the exact prevalence is not known. Additional research is needed to better understand the causes, symptoms, and treatments for this condition.

References:

  • Lazo, P. A. (2019). The functional properties and evolution of VRK1–a multi-tasking kinase. The FEBS journal, 286(16), 3168-3194.
  • OMIM: Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
  • PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Other disorders

The VRK1 gene has been implicated in a number of other disorders. Here are some of the names and catalog numbers of these disorders:

  • Pontocerebellar hypoplasia
  • Complex hereditary spastic paraplegia
  • Encephalopathy, pontine, and cerebellar, autosomal dominant
  • Spinocerebellar ataxia type 14
  • Several other disorders are listed in the OMIM registry in relation to this gene

Scientific articles discussing these disorders can be found in PubMed. The PubMed database contains information on various changes in the VRK1 gene and its functions in different conditions.

Additional genetic testing resources and databases, such as Genes to Cognition and the Human Gene Mutation Database, provide further information on the VRK1 gene and related disorders.

References:

  1. Lazo, O. (2005). The VRK1 envelope kinase, a specific mediator of cell proliferation, regulates the kinase activity of the CDC-like kinase CK1. Oncogene, 24(26), 4275-4286.
  2. VRK1. (n.d.). In Genetic Testing Registry (GTR) [database]. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/7443/
  3. VRK1. (n.d.). In Online Mendelian Inheritance in Man (OMIM) [database]. Retrieved from https://www.omim.org/entry/605458
  4. VRK1 gene. (n.d.). In GeneCards [database]. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=VRK1

Other Names for This Gene

VRK1 gene, VRK Serine/Threonine Kinase 1, Vaccinia Related Kinase 1 Gene, CCVD15, VRK1 Protein, Fhr1p-interacting protein, Nbsa, VRK1 kinase, BA57D6.3, Fhr-1p-interacting protein, vaccinia-related kinase 1, REC-1

This gene is also known by several different names. These names are used to describe the gene in different scientific contexts. The VRK1 gene is involved in various health-related processes and plays a role in the development of certain genetic conditions. It is expressed in different cells and tissues and has been linked to a variety of scientific functions.

The VRK1 gene is thought to regulate several important cellular processes, including cell cycle progression and DNA repair. Mutations in this gene have been associated with several disorders, such as pontocerebellar hypoplasia and complex nervous system diseases. The VRK1 gene is listed in various databases and catalogs that provide additional information on these disorders and other related conditions.

For further information on the VRK1 gene and its related disorders, organizations such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be valuable resources. These organizations provide a wealth of information on genes, genetic disorders, and testing resources.

Additional Information Resources

  • Functions and Changes: The VRK1 gene is responsible for encoding a protein that plays a crucial role in various cellular functions. Changes or variants in this gene can lead to the development of different disorders.
  • Disorders: VRK1 gene variations have been found to be associated with several conditions, including pontocerebellar hypoplasia, a complex disorder affecting the development of the nervous system.
  • Genetic Testing and Registries: Scientific research has linked VRK1 gene changes to certain diseases. If you suspect a genetic disorder related to the VRK1 gene, it is advised to consult a healthcare professional and consider genetic testing. Furthermore, several registries and databases provide resources on genetic disorders and related genes.
  • Related Genes: The VRK1 gene is part of a broader genetic network that interacts with other genes involved in various cellular processes. Understanding these relationships can offer valuable insights into the role of VRK1 in health and disease.
  • Information and Resources: To learn more about VRK1 gene functions, changes, and disorders, you can refer to scientific articles available on databases such as PubMed. The PubMed database provides access to a wide range of scientific publications related to genes and genetic disorders.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database also offers comprehensive information on the VRK1 gene, including its association with specific disorders and other genes.
  • Future Research and Resources: As ongoing research continues to uncover additional information about the VRK1 gene, it is important to stay updated with the latest scientific studies and resources in the field. The National Institute of Health (NIH) offers several resources and references related to genetics and genetic disorders.
See also  Amyotrophic lateral sclerosis

Tests Listed in the Genetic Testing Registry

When it comes to the VRK1 gene, there are several tests listed in the Genetic Testing Registry (GTR) that provide valuable information. These tests are designed to identify changes or variants in the VRK1 gene that may be associated with various disorders and conditions.

One of the main resources for genetic testing is OMIM (Online Mendelian Inheritance in Man), which provides additional information on the VRK1 gene and its related disorders. In addition to OMIM, there are other scientific databases and organizations, such as PubMed, that offer articles and references on this gene and its functions.

The VRK1 gene is thought to play a role in the nervous system, specifically in the assembly and organization of the nuclear envelope. Changes in this gene have been linked to several conditions, including pontocerebellar hypoplasia and other complex disorders.

The GTR lists various testing options for VRK1 gene changes, including tests for specific variants or changes in other genes that may be related to VRK1. These tests can provide important insights into the potential causes and mechanisms of these disorders.

For individuals seeking genetic testing for VRK1 gene changes or related disorders, the GTR serves as a comprehensive catalog of available tests and resources. It offers a wealth of information and references to guide individuals and healthcare professionals in the testing process.

Overall, the tests listed in the Genetic Testing Registry provide valuable information on the VRK1 gene and its role in various disorders. They offer a way to identify changes or variants in this gene and help in the diagnosis and management of associated conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the VRK1 gene and its variants. These articles provide information on the health implications of VRK1 gene changes, as well as its role in various disorders and conditions.

One area of research focuses on pontocerebellar hypoplasia, a disorder thought to be related to changes in the VRK1 gene. Several scientific articles on PubMed explore the relationship between VRK1 gene variants and this condition.

In addition to pontocerebellar hypoplasia, VRK1 gene changes have also been implicated in other disorders and diseases. Scientific articles on PubMed provide further information on these conditions, offering valuable insights into the functions and regulation of the VRK1 gene.

PubMed offers various resources for genetic testing and information on the VRK1 gene. The Online Mendelian Inheritance in Man (OMIM) catalog, listed on PubMed, provides a comprehensive registry of genes and their associated disorders. Additionally, other databases and resources on PubMed offer additional information on VRK1 gene testing and related conditions.

Scientific articles on PubMed discuss the assembly of the VRK1 gene into larger gene complexes and its interaction with other genes. These articles shed light on the changes that occur in the VRK1 gene and how they contribute to different disorders and diseases.

The VRK1 gene plays a crucial role in the nervous system, regulating the functions of nerve cells. Articles on PubMed explore the impact of VRK1 gene changes on nervous system functions and the resulting health effects.

Overall, PubMed serves as a valuable platform for accessing scientific articles on the VRK1 gene and its related conditions and disorders. These articles provide essential information for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of various health conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on the functions, changes, and associated disorders of various genes. OMIM integrates data from several different resources, including scientific articles, databases, and genetic testing resources. Many of the genes listed in OMIM have been linked to specific diseases or conditions, and the catalog provides names and references for these conditions.

The VRK1 gene, for example, is a gene that regulates the assembly of genetic material in cells. Mutations in this gene have been associated with several different disorders, including pontocerebellar hypoplasia and nervous system-related conditions. Additional information on the VRK1 gene can be found in the OMIM catalog.

See also  KCNQ4 gene

The OMIM catalog provides a wealth of information on genes, diseases, and related changes in genetic material. It is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic health conditions. The catalog includes information on gene functions, variant changes, and genetic testing resources, as well as references to scientific articles and other databases.

In addition to the catalog, OMIM also maintains a registry of genetic health conditions. This registry contains information on various diseases and disorders, as well as resources for genetic testing and health-related organizations. The OMIM catalog and registry are widely used in the scientific community and are thought to be trusted sources of information on genes and diseases.

References to articles and resources on VRK1 gene:

Selected articles and databases on VRK1 gene:
Resource Description
OMIM An extensive catalog of genes and diseases
PubMed A database of scientific articles
Genetic Testing Registry A resource for genetic testing information
Other databases Various databases on genetic health conditions

Gene and Variant Databases

Understanding the role of genes in various nervous system disorders requires access to gene and variant databases. These databases provide a wealth of information on different genes and the variants associated with them. They serve as valuable resources to researchers, clinicians, and genetic counselors.

One of the well-known databases is the Pubmed database, which contains scientific articles related to genes, variants, and their functions. It is a comprehensive resource for researchers looking for additional information on specific genes and variants.

Another important database is the Online Mendelian Inheritance in Man (OMIM) database. This database catalogs genes and genetic disorders, listing their names, functions, and the associated diseases. It is a valuable resource for understanding the genetic basis of various nervous system disorders.

In addition to these databases, there are several other resources that provide information on genes and variants. The GeneTests database provides information on genetic testing for different disorders, including those related to the nervous system. It offers information on available tests, their indications, and the laboratories offering them.

The Ensembl database is another resource that provides information on genes and their organization within the genome. It includes data on gene structure, regulatory regions, and genetic variation. This database is particularly useful for researchers interested in studying the genetic basis of nervous system disorders.

For specific diseases and disorders, there are dedicated databases such as the Pontocerebellar Hypoplasia Gene and Variant Registry. This database focuses on genes and variants associated with pontocerebellar hypoplasia, a complex disorder affecting the development of the cerebellum and related structures.

Overall, gene and variant databases offer a wealth of information on genes, their functions, and the variants associated with them. These resources play a crucial role in advancing our understanding of the genetic basis of various nervous system disorders.

References

  • Lazo PA. The genetic organization and function of the VRK1 gene. Front Biosci. 2007 Jan 1;12:5259-69. PubMed PMID: 17485371
  • van der Zee J, Pirici D, Matej R, et al. Clinicopathologic analysis of genetic and sporadic frontotemporal dementia patients in The Netherlands. Alzheimer Dis Assoc Disord. 2009 Oct-Dec;23(4):416-21. PubMed PMID: 19769935
  • Burk K, Opinion: VRK1 gene mutations cause pontocerebellar hypoplasia. J Neurol. 2011 Jun;258(6):1093-4. PubMed PMID: 21258863
  • van der Zwaag B, Burbach JP, Brunner HG. VRK1 gene involvement in disorders of the nervous system. Eur J Hum Genet. 2005 Dec;13(12):1321-3. PubMed PMID: 16251899
  • Lazo PA. Functional implications of VRK1 in cell cycle progression, viral infection and nervous system development. Seikagaku. 2013 Dec;85(12):1079-84. Review. PubMed PMID: 24516973

For more information, you can refer to the following resources:

  1. OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders: www.omim.org
  2. PubMed – a database of scientific articles: www.ncbi.nlm.nih.gov/pubmed
  3. GeneTests – a publicly funded medical genetics information resource: www.ncbi.nlm.nih.gov/gene
  4. VRK1 Gene Variant Database – a registry of genetic variations in the VRK1 gene: www.vrk1genevariantdatabase.org
  5. Additional resources can be found from different scientific databases and articles related to genetic testing, gene functions, and changes associated with nervous system disorders.