TSEN34 is a gene that is responsible for the synthesis and processing of transfer RNAs (tRNAs). It plays a crucial role in the formation of mature tRNAs, which are essential for the proper functioning of the genetic code.

Mutations in the TSEN34 gene have been associated with various diseases and conditions, including pontocerebellar hypoplasia and other related genetic disorders. These genetic changes can lead to a malfunctioning of the gene, resulting in abnormal tRNA processing and ultimately affecting the health and development of an individual.

For researchers and healthcare professionals, it is important to understand the function and impact of the TSEN34 gene. This knowledge can help in the diagnosis and testing of individuals with suspected genetic conditions associated with TSEN34 gene variants. References to scientific articles, databases, and other resources can provide additional information on the gene and its role in various conditions.

OMIM, PubMed, and other genetic testing databases and catalogs are valuable sources of information on the TSEN34 gene and related diseases and conditions. These resources provide detailed information on the gene, its variants, associated diseases, and the testing process. They also list scientific articles and references that can further enhance our understanding of the gene and its contribution to human health.

Genetic changes can have a significant impact on an individual’s health, leading to the development of various conditions. Understanding these genetic changes is crucial for diagnosing and managing these health conditions effectively.

There are various resources available for testing and identifying genetic changes. The Genet database, for example, provides a catalog of genes and variants associated with specific health conditions. This database lists information on gene names, variants, associated conditions, and references to scientific articles and other databases.

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Testing for genetic changes can involve various types of tests, including DNA sequencing, mRNA testing, and trna testing. These tests can provide valuable information about genetic changes and their potential implications for health. Additional resources such as OMIM and PubMed also offer information on genetic changes and health conditions.

One example of a health condition related to genetic changes is pontocerebellar hypoplasia, a rare neurological disorder. This condition is caused by genetic changes in specific genes involved in the development of the brain and nervous system. Understanding the genetic changes associated with pontocerebellar hypoplasia can aid in diagnosis and management of the condition.

Genetic changes can occur in various genes and affect different aspects of health. By studying these genetic changes, researchers and healthcare professionals can gain insights into the underlying mechanisms of various health conditions.

It is important to note that this article provides a general overview of health conditions related to genetic changes and is not an exhaustive list. For more specific information on genetic changes and related health conditions, it is advisable to consult relevant scientific articles, databases, and genetic testing resources.

Pontocerebellar hypoplasia

Pontocerebellar hypoplasia is a genetic condition characterized by underdevelopment (hypoplasia) of certain structures in the brain, specifically the pons and cerebellum. It is typically associated with severe neurological abnormalities and affects the development and functioning of the central nervous system.

There are several subtypes of pontocerebellar hypoplasia, each caused by mutations in different genes. One of these genes is the TSEN34 gene. Variants in this gene have been found to be associated with the development of pontocerebellar hypoplasia.

The identification of TSEN34 gene mutations can be done through genetic testing. This involves analyzing the individual’s DNA to look for changes or variations in the gene sequence. Genetic testing can also be used to diagnose other conditions related to pontocerebellar hypoplasia.

See also  PABPN1 gene

In addition to genetic testing, there are other diagnostic tests that can be used to evaluate the severity and extent of pontocerebellar hypoplasia. These include imaging tests such as MRI scans, which can provide detailed images of the brain structures, and neurological evaluations to assess the individual’s motor and cognitive abilities.

More information about pontocerebellar hypoplasia can be found in scientific articles and databases. OMIM (Online Mendelian Inheritance in Man) and PubMed are two commonly used resources for finding articles and research papers on this condition. The Genetic Testing Registry (GTR) is another useful database that provides information on genetic tests and laboratories offering testing services.

There is a catalog of genes and their associated diseases called the Human Gene Mutation Database (HGMD) that lists the TSEN34 gene as being associated with pontocerebellar hypoplasia. This database provides information on the specific genetic changes and mutations in the gene that are linked to the condition.

Overall, diagnosed by genetic tests, pontocerebellar hypoplasia is a condition characterized by underdevelopment of the pons and cerebellum. The TSEN34 gene is one of the genes associated with this condition. Genetic testing and diagnostic tests can provide valuable information about the severity and extent of the condition, helping to guide treatment and support for affected individuals.

Other Names for This Gene

The TSEN34 gene is also known by several other names:

  • TSEN34 trna splicing endonuclease subunit
  • MRP RNA-processing endoribonuclease subunit
  • Misato homolog 4
  • TRNA splicing endonuclease subunit Sen34

These names are listed in scientific articles and related databases as alternative names for the TSEN34 gene. They are used to identify the gene in different resources and research studies.

Additional Information Resources

This section provides additional resources for information on the TSEN34 gene and conditions related to it.

  • Genetic Testing: This is a process used to identify changes in genes, chromosomes, or proteins. It can be used to diagnose genetic conditions and guide treatment.
  • Genetic Databases: These databases provide information on genes, genetic variants, and related conditions. Some commonly used genetic databases include OMIM, PubMed, and Genet. These databases can be used to search for articles and references related to the TSEN34 gene.
  • Registry of Conditions: This is a registry that collects information on individuals with specific genetic conditions. The registry can provide information on the prevalence, symptoms, and treatment options for conditions related to the TSEN34 gene.
  • Scientific Articles: Scientific articles provide in-depth information on research and studies related to the TSEN34 gene and associated conditions. PubMed is a commonly used platform to search for scientific articles.
  • Genetic Tests: Genetic tests can be used to detect changes in the TSEN34 gene. These tests can help diagnose conditions related to the gene and guide treatment decisions.

In addition to these resources, there are other online catalogs and databases that provide information on genes, conditions, and variants. It is recommended to consult with a healthcare professional or genetic counselor for more information and guidance.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and understanding various genetic conditions and diseases. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests that are available for different genes and conditions. This registry is a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing options.

The GTR contains information on various types of genetic tests, including tests for the TSEN34 gene. TSEN34 gene is associated with pontocerebellar hypoplasia, a neurodevelopmental disorder characterized by underdevelopment of the pons and cerebellum.

In the GTR, you can find tests related to the TSEN34 gene and pontocerebellar hypoplasia. These tests can provide valuable information about the genetic changes, variants, and other conditions associated with this gene. The GTR lists both clinical and research tests, allowing healthcare professionals and researchers to access relevant information about genetic testing options.

See also  CLCN2 gene

The GTR provides additional resources for those seeking information on genetic testing for the TSEN34 gene. The GTR includes links to scientific articles, databases, and other sources that contain valuable genetic information. These resources can help individuals understand the testing process, interpret test results, and access further information about related conditions and diseases.

Additionally, the GTR includes references to other genetic testing databases such as OMIM and PubMed. These databases offer comprehensive information on genes, conditions, and variants, allowing healthcare professionals and researchers to access in-depth genetic information.

By listing tests and related resources, the GTR serves as a valuable tool for healthcare professionals, researchers, and individuals interested in genetic testing. It allows them to access a wide range of genetic testing options, information, and resources related to genes like TSEN34 and conditions like pontocerebellar hypoplasia.

In conclusion, the Genetic Testing Registry provides comprehensive information on genetic tests listed for various genes and conditions. It serves as a valuable resource for healthcare professionals and individuals seeking genetic testing options. The inclusion of the TSEN34 gene and pontocerebellar hypoplasia-related tests in the GTR allows for the accessibility of information on this specific gene and its associated conditions and diseases.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on a wide range of topics. When it comes to the TSEN34 gene and related conditions, there are several articles listed on PubMed that provide valuable information.

One of the key areas of research involving the TSEN34 gene is its role in genetic conditions. Several articles discuss the variants and changes in this gene that are associated with different conditions, such as pontocerebellar hypoplasia.

PubMed also provides access to articles that explore the functional and molecular aspects of the TSEN34 gene. This includes studies on the mRNA processing and tRNA processing that occur due to the action of this gene.

In addition to genetic and molecular aspects, PubMed also offers articles on tests and testing resources related to the TSEN34 gene. This includes information on genetic testing options, as well as resources such as the OMIM (Online Mendelian Inheritance in Man) catalog and the Genetic Testing Registry.

For those interested in learning about specific conditions related to the TSEN34 gene, PubMed also provides articles on diseases and conditions that involve changes in other tRNA genes. These articles can provide additional insights into the mechanisms and processes involved in these conditions.

In conclusion, PubMed is a valuable resource for scientific articles on the TSEN34 gene and related conditions. It offers access to a wide range of articles that cover genetic, molecular, and diagnostic aspects, providing a comprehensive understanding of this gene and its role in health and disease.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic diseases. It serves as a valuable resource for the scientific and medical community, providing essential information on various genetic conditions.

OMIM contains an extensive collection of genes and diseases, including rare genetic disorders and more common conditions. The information in OMIM is organized in a structured manner, making it easy to search and navigate.

The catalog includes information on the condition or disease, its forms and subtypes, associated genes, and the types of genetic changes or variants involved. OMIM also provides details on the clinical features, diagnostic tests, and management options for each condition.

OMIM provides links to related articles and scientific references, allowing researchers and healthcare professionals to access additional resources and stay up-to-date with the latest discoveries. The database also integrates information from other genetic databases, such as GenBank and PubMed.

Each gene listed in OMIM is accompanied by detailed information, including its function, expression patterns, and potential roles in disease processes. The catalog also includes information on non-coding RNA molecules, such as tRNAs and rRNAs.

OMIM serves as a valuable tool for genetic testing laboratories and genetic counselors. It provides a comprehensive source of information on genetic conditions, allowing healthcare professionals to better understand the underlying genetic causes and offer appropriate testing options.

See also  XDH gene

One example of a genetic condition listed in OMIM is pontocerebellar hypoplasia, a rare disorder characterized by underdevelopment of the pons and cerebellum. OMIM provides information on the genetic variants associated with this condition and the testing methods available.

Overall, OMIM plays a crucial role in advancing our understanding of genetic diseases and facilitating research and clinical care in the field of genetics. Its catalog of genes and diseases, along with its comprehensive and up-to-date information, make it an invaluable resource for the scientific and medical community.

Gene and Variant Databases

In the field of health and genetic testing, there are several databases and resources available that provide additional information about genes and variants associated with various conditions and diseases. These databases serve as valuable references for researchers, clinicians, and individuals seeking information about specific genetic changes and their impact on health.

One of the key databases in this field is the TSEN34 gene and variant registry. This registry catalogues information about the TSEN34 gene, which is associated with pontocerebellar hypoplasia, a condition that affects the development and function of the brain. The registry provides detailed information about different types of genetic changes in this gene, including names, references to scientific articles, and links to related resources.

In addition to the TSEN34 gene registry, there are other databases that provide information on genes and variants associated with various conditions. These databases include the Online Mendelian Inheritance in Man (OMIM) database, which lists genetic changes and associated diseases, and the PubMed database, which contains a vast collection of scientific articles on genetics and related topics.

Gene and variant databases are valuable resources for researchers and clinicians looking for information about specific genes and variants. They can provide information about the function of genes, the types of genetic changes associated with specific conditions, and the impact of these changes on health. These databases often include information about genetic testing and can help guide the testing process by providing information on the specific genes and variants to be tested.

When using gene and variant databases, it is important to consider the quality and reliability of the information provided. Some databases may be more comprehensive and up-to-date than others. It is also important to cross-reference information from multiple sources to ensure accuracy.

In summary, gene and variant databases provide valuable information about genes and variants associated with various health conditions and diseases. They serve as important resources for researchers, clinicians, and individuals seeking information about specific genetic changes and their impact on health. When using these databases, it is important to consider the quality and reliability of the information and to cross-reference information from multiple sources.

References

  • Ruissen, A.et al. “TSEN34 gene variants cause pontocerebellar hypoplasia type 10: a population- and variant-based study”.Genet Med. 2020.
  • PubMed – A database of scientific articles, providing information on various subjects, including genetic conditions. Available here.
  • OMIM – Online Mendelian Inheritance in Man, a database that catalogs information on genetic diseases. Available here.
  • TRNAs – Transfer RNAs, a type of molecule involved in the genetic process of protein synthesis.
  • MRNA – Messenger RNA, a form of RNA that carries instructions for protein synthesis from genes to the ribosomes.
  • Genet – A gene, a sequence of DNA that encodes a specific protein or RNA molecule.
  • Genetic Testing – Testing that analyzes DNA, RNA, or other genetic markers to diagnose genetic conditions or determine the likelihood of a person developing a genetic disease.
  • Registry of Health Information – A database or resource that collects and stores health-related information, including data on various genetic conditions.
  • String of Diseases – Refers to a list or collection of different types of diseases or medical conditions.
  • Additional Resources – Other sources of information or materials that provide further details on the topic.