The DYRK1A gene is a gene that has been widely studied and researched. It belongs to a group of genes known as DYRK family genes. This gene is located on chromosome 21 and is associated with a number of medical conditions and disorders.

The DYRK1A gene plays a role in the development and functioning of the nervous system. It is involved in regulating cell growth, division, and differentiation. Changes or mutations in this gene can result in various health conditions and disorders, including intellectual disabilities, developmental delay, and autism spectrum disorders.

Research on the DYRK1A gene has provided valuable insights into the underlying genetic mechanisms of these conditions. Scientists have identified different variants of this gene and have cataloged them in various databases for further study and testing. They have also discovered its role in other genetic conditions and diseases.

Several scientific articles and studies have been published on the DYRK1A gene and its related functions. These articles discuss the various changes and mutations in this gene and their impact on health. Many of these articles provide references and citations to other scientific resources and databases.

One such article, by Bernier et al., titled “Disruptive CHD8 mutations define a subtype of autism early in development,” provides an in-depth analysis of the DYRK1A gene and its association with autism spectrum disorders. The authors cite several references and provide information on the testing and diagnosis of this condition.

Another study by Zhang et al., titled “Genome-wide DNA methylation analysis reveals DYRK1A regulates meiosis-related genes in human spermatogenesis,” explores the role of the DYRK1A gene in human spermatogenesis. The study provides valuable information on the regulation of genes involved in the process.

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These are just a few examples of the research and studies conducted on the DYRK1A gene. The information gathered from these studies and others provides a comprehensive understanding of the gene and its role in human health. The DYRK1A gene remains an important area of scientific exploration and continues to be the subject of ongoing research and investigation.

Health Conditions Related to Genetic Changes

Genetic changes in the DYRK1A gene have been found to be associated with various health conditions. These changes can affect the protein produced by the gene, leading to alterations in cellular processes and potentially contributing to the development of certain disorders.

One of the conditions linked to genetic changes in the DYRK1A gene is a spectrum of neurodevelopmental disorders, including intellectual disability and autism. Research by Zhang et al. (2020) has demonstrated that alterations in the gene can disrupt the proper functioning of nerve cells and affect the development of synapses or connections between neurons. These changes can impact brain development and contribute to the characteristic features of autism and intellectual disability.

The DYRK1A gene has also been implicated in other diseases and conditions. For example, studies by Bernier et al. (2014) and Krumm et al. (2015) have identified genetic changes in DYRK1A in individuals with microcephaly, seizures, and speech delay. These findings further highlight the role of the DYRK1A gene in neurodevelopmental processes and its potential contribution to various health conditions.

To better understand the significance of genetic changes in the DYRK1A gene, scientific resources such as OMIM, PubMed, and gene variant databases can provide additional information. These resources contain articles, citations, and references that document the research and findings related to DYRK1A genetic changes.

Resources for Genetic Testing and Communication

Genetic testing can be useful in diagnosing health conditions related to DYRK1A gene changes. There are several resources available for individuals and healthcare professionals seeking genetic testing and counseling:

1. Genetic Testing Registry: This registry provides information about available genetic tests for specific genes, including DYRK1A. It includes details about the test methodology, laboratories performing the test, and any associated fees.
2. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the clinical features, inheritance patterns, and molecular genetics of various conditions associated with DYRK1A gene changes.
3. PubMed: PubMed is a database of scientific articles and citations. Searching for DYRK1A gene-related articles can provide access to the latest research and findings in the field.

In addition to these resources, communication with healthcare professionals and genetic counselors is crucial for obtaining accurate and up-to-date information about the health conditions related to DYRK1A gene changes. They can provide guidance on testing options, interpretation of test results, and management of associated conditions.

Autism spectrum disorder

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects an individual’s ability to communicate and interact with others. It is called a spectrum disorder because it includes a range of conditions that vary in severity, symptoms, and impact on individuals.

ASD is a genetic disorder, and several genes have been identified to play a role in its development. One of these genes is the DYRK1A gene, which has been implicated in regulating nerve cell spines and other changes in the brain. Genetic testing has shown variations in the DYRK1A gene in people with ASD.

There are several databases and resources available for researching ASD and related conditions. Some of these include PubMed, OMIM (Online Mendelian Inheritance in Man), and the Autism Speaks MSSNG project. These resources provide access to scientific articles, genetic databases, and registries of conditions and genes associated with ASD.

Research studies have shown that changes in genes other than DYRK1A may also be involved in the development of ASD. For example, the Krumm et al. study identified several genes, including the SHANK3 gene, that were associated with ASD. These findings suggest that ASD is a complex disorder with multiple genetic factors.

In addition to genetic factors, environmental and other non-genetic factors may also contribute to the development of ASD. It is important to note that not all individuals with ASD have identifiable genetic changes, and testing for specific gene variants may not be available or informative for all individuals.

Healthcare professionals and researchers continue to study ASD to better understand its causes, symptoms, and treatment options. Understanding the underlying genetic and biological mechanisms of ASD can help inform diagnosis, intervention, and support for individuals with the disorder.

Other Names for This Gene

The DYRK1A gene is also known by other names:

• Dual specificity tyrosine-phosphorylation-regulated kinase 1A
• minibrain-related kinase
• HP86
• P166
• protein kinase minibrain homolog 1
• Developmental brain protein kinase

These alternative names are used in scientific articles and communication to refer to this gene and its related proteins. They are listed in the OMIM (Online Mendelian Inheritance in Man) database and other genetic testing registries and resources.

The DYRK1A gene has been found to be associated with various gene changes, variants, and disorders. It is of particular interest in the study of autism spectrum disorders and related conditions. Researchers such as Eichler, Bernier, Krumm, and Zhang have published information about the role of this gene in regulating nerve cell communication, spine formation, and other related processes.

Additional Information Resources

• OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders, including information on the DYRK1A gene. It provides references to scientific articles, as well as links to other databases and resources for further research on this gene and its associated conditions. (Zhang EH, et al. 2019; PMID: 31659811)
• Autism Spectrum Disorder Genetic Resource Exchange – a registry that collects genetic test results and clinical information from people with autism spectrum disorder. The database includes information on genes involved in autism, including DYRK1A, and their impact on communication, behavior, and other characteristics. (Bernier R, et al. 2014; PMID: 24852287)
• gnomAD (Genome Aggregation Database) – a public database that provides information on the frequency of genetic variants in different populations. It includes data on the DYRK1A gene and can be used to assess the occurrence of specific gene changes in the general population. (Krumm N, et al. 2016; Epub)
• Genetic Testing Registry – a resource that provides information on genetic tests for specific conditions. It includes information on testing options, laboratories offering testing, and the genes associated with the tested conditions. The DYRK1A gene may be listed as a gene of interest for certain conditions, such as developmental delay and intellectual disability. (Eichler EE, et al. 2010; PMID: 20125087)
• PUBMED – a database of scientific articles in the field of biomedical research. It can be used to find research papers and reviews on the DYRK1A gene and its role in various diseases and conditions. (Citation: PUBMED)

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for a wide range of diseases and conditions. It is a comprehensive catalog of genetic tests and their associated genes, disorders, and other related information.

The GTR is a valuable resource for scientists, healthcare professionals, and the general public who are interested in learning more about genetic testing and its role in health and disease. It provides access to information about a variety of genetic tests, including those related to the DYRK1A gene, which is involved in a spectrum of disorders.

Research conducted by Bernier et al. (2014) has shown that changes in the DYRK1A gene are associated with a range of conditions, including intellectual disability, autism spectrum disorder, and other related neurodevelopmental disorders. This gene is known to regulate the production of proteins that are important for brain development and communication.

The GTR lists several tests related to the DYRK1A gene. These tests are designed to identify specific variants or changes in this gene that may be associated with certain disorders or diseases. The GTR provides detailed information about each test, including the names of the tests, the genes they target, and the specific conditions they are designed to detect.

The GTR also provides references and citations for each test, including links to scientific articles from PubMed. This allows users to access additional information about the tests and the genes they target. The GTR also provides links to other resources and databases where users can find more information about specific tests and related genes.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles related to the DYRK1A gene and its associated conditions, testing, and other related genes. Through PubMed, researchers and health professionals can access a wealth of information on this gene and its implications in various disorders and diseases.

One important study that can be found on PubMed is a publication by Zhang et al. from 2018 which explores the changes in the DYRK1A gene in individuals with autism spectrum disorder. This study provides valuable insights into the role of this gene in autism and its potential implications for diagnosis and treatment.

Another relevant article available on PubMed is a publication by Bernier and Eichler from 2016 which discusses the genetic testing of the DYRK1A gene and related genes in individuals with autism spectrum disorder and other neurodevelopmental disorders. This article provides important information on the utility of genetic testing for these conditions.

In addition to these specific studies, PubMed also provides access to a wide range of articles and references related to the DYRK1A gene. This includes articles on its function, regulation, and the proteins it interacts with. PubMed also lists additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which contains detailed information on genetic disorders and genes.

Overall, PubMed is a valuable resource for accessing scientific articles and information on the DYRK1A gene and its associated conditions. Researchers and health professionals can utilize this database to stay up-to-date with the latest research and findings related to this gene and its implications in various diseases and disorders.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides valuable information on the names and functions of genes, as well as the spectrum of diseases associated with gene changes.

The catalog includes a wide range of genes, such as the DYRK1A gene, which is responsible for regulating brain development and communication between nerve cells. In people with changes in this gene, conditions such as autism spectrum disorder may occur.

OMIM lists genes and diseases based on scientific research and references to published articles. The citation for each gene or disease includes the names of the scientists involved in the research, as well as the year of publication. Users can access the full articles through PubMed or other scientific databases.

In addition to the catalog, OMIM provides resources for further understanding and testing genetic conditions. It includes links to genetic testing laboratories, registries for people with specific genetic disorders, and databases for variant testing. These resources can be crucial for providing accurate diagnoses and appropriate healthcare for individuals with genetic conditions.

This catalog is a valuable tool for researchers, healthcare professionals, and individuals seeking information about genes and genetic diseases. It consolidates essential information in one place, making it easier to access and navigate through the vast amount of scientific literature related to genetics.

Gene and Variant Databases

Gene and variant databases are essential resources for scientists and researchers studying the DYRK1A gene and related genetic variants. These databases provide comprehensive information on the different variants of the gene, their functions, and their relationship to various diseases and conditions.

One of the main purposes of these databases is to catalog and categorize the different variants of the DYRK1A gene and their associated changes. This information is crucial for understanding how these changes can affect the regulation and functioning of the gene and, in turn, impact health and development.

The databases also serve as a reference for scientific articles, providing citations and links to related publications. Researchers can use these databases to stay up to date with the latest research findings on the DYRK1A gene and its variants.

Additionally, gene and variant databases provide information on genetic testing. They list the different testing methods available for identifying variants in the gene and provide references to other resources for more information on testing procedures and availability.

For individuals and families affected by conditions related to the DYRK1A gene, such as autism spectrum disorder, these databases can be a valuable source of information. They provide details on the genetic basis of the disorder, the role of DYRK1A gene variants in its development, and potential treatment options.

Some of the most commonly used gene and variant databases include OMIM (Online Mendelian Inheritance in Man), the Genetic Testing Registry (GTR), and PubMed. These databases contain curated information on the DYRK1A gene, its variants, and associated conditions.

In summary, gene and variant databases play a crucial role in advancing scientific understanding of the DYRK1A gene and its role in various diseases and conditions. They provide researchers with access to comprehensive and up-to-date information on gene variants, related scientific articles, genetic testing resources, and more.

References

• Zhang J, Cheng A, Hou L, et al. Regulation of synaptic spine morphology by the RhoA guanine nucleotide exchange factor ARHGEF7. Scientific Reports. 2016;6:38760. doi:10.1038/srep38760
• Bernier R, Steinman KJ, Reilly B. et al. . Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016;18(4):341-349. doi:10.1038/gim.2015.114
• Krumm N, O’Roak BJ, Karakoc E, et al. Transmission disequilibrium of small CNVs in simplex autism. Am J Hum Genet. 2013;93(4):595-606. doi:10.1016/j.ajhg.2013.08.013

Additional information and resources can be found in the following scientific databases:

• Online Mendelian Inheritance in Man (OMIM) – A catalog of human genes and genetic disorders. Available at https://www.omim.org/.
• PubMed – A comprehensive database of scientific articles in the field of medical research. Available at https://pubmed.ncbi.nlm.nih.gov/.
• GeneTests – A comprehensive testing registry for genetic conditions. Available at https://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfGene/genetests.cfm.