YY1AP1 Gene: Functions, Regulation, and Implications

The YY1AP1 gene is a critical gene that plays a crucial role in various health conditions. It is a gene associated with different genetic syndromes and diseases. Various resources and databases such as PubMed, OMIM, and the Genetic Testing Registry provide information on this gene, including changes and variants associated with specific conditions.

The YY1AP1 gene is involved in the regulation of genes related to cell differentiation, heart development, and other important biological processes. Scientific articles and publications have extensively studied its function and potential implications in various diseases. Genetic tests can now detect changes in the YY1AP1 gene, providing valuable information for diagnosis and treatment options.

Understanding the YY1AP1 gene and its role in human health has opened doors to further research and advancements in related fields. The identification of this gene has led to a greater understanding of various conditions and has expanded the list of genes related to these diseases. Additionally, this gene has become a key citation in scientific articles, further emphasizing its importance in the scientific community.

For additional information on the YY1AP1 gene, including its function, associated conditions, and genetic testing options, resources such as PubMed, OMIM, and the Genetic Testing Registry provide a wealth of information. These databases offer a comprehensive catalog of articles, tests, and changes related to this gene, enabling researchers and healthcare professionals to stay updated on the latest developments in the field.

Genes play a critical role in determining our health and well-being. Changes in genes, also known as variants, can lead to various health conditions. This section provides information on health conditions related to genetic changes.

There are several resources available that catalog information on genes and genetic conditions. Some of the most widely used resources include the Online Mendelian Inheritance in Man (OMIM) database, GeneTests, and the Genetic Testing Registry (GTR).

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OMIM is a comprehensive database that provides information on genes and genetic diseases. It includes descriptions of genetic disorders, their symptoms, the genes involved, and references to scientific articles. GeneTests is a directory of genetic tests available for various conditions, along with information on laboratories offering these tests. GTR provides information on genetic tests, including the purpose of the test, the methods used, and the conditions the test can detect.

When searching for information on a specific gene or genetic condition, it is often helpful to use the gene name or the associated disease name as a keyword. This can help narrow down the search results and provide more relevant information.

In addition to these databases, there are several scientific articles and research papers available that discuss the relationship between genes and health conditions. PubMed, a widely used database of scientific literature, can be searched using the gene name or disease name as keywords. This can provide access to scientific studies and research papers that have investigated the role of specific genes in certain diseases.

One example of a health condition related to genetic changes is the YY1AP1 gene. This gene is involved in the differentiation of heart cells and is associated with a condition known as Grange Syndrome. Grange Syndrome is a rare genetic disorder characterized by congenital heart defects, developmental delays, and other health problems. Studies have implicated mutations in the YY1AP1 gene as a cause of Grange Syndrome.

Genetic testing can be performed to identify changes or mutations in specific genes. This can help diagnose genetic conditions, predict the risk of developing certain diseases, and guide the development of personalized treatment strategies. Genetic testing may involve analyzing a person’s DNA, RNA, or proteins to detect changes in genes.

Resources	Description
Online Mendelian Inheritance in Man (OMIM)	A comprehensive database of genes and genetic diseases
GeneTests	A directory of genetic tests and laboratories offering these tests
Genetic Testing Registry (GTR)	Provides information on genetic tests and their purposes
PubMed	A database of scientific articles and research papers

By utilizing these resources and conducting further research, scientists and medical professionals can gain a better understanding of the relationship between genes and health conditions. This knowledge can lead to advancements in medical treatments, prevention strategies, and improved patient outcomes.

Grange syndrome

Grange syndrome, also known as YY1AP1-related syndrome, is a rare genetic disorder. It is characterized by a variety of conditions and symptoms, including heart defects, skeletal abnormalities, and intellectual disability.

Grange syndrome is caused by changes in the YY1AP1 gene. This gene provides instructions for making a protein that is involved in the differentiation of cells and the development of various tissues and organs in the body.

Common features of Grange syndrome include heart defects, such as abnormal heart rhythms and structural abnormalities. Individuals with Grange syndrome may also have skeletal abnormalities, such as clubfeet and extra toes.

Diagnosis of Grange syndrome is typically made through genetic testing. This involves analyzing a person’s DNA to look for changes in the YY1AP1 gene. Additional tests may be done to assess the individual’s overall health and identify any related conditions.

Information about Grange syndrome and related genes can be found in various databases and resources. The OMIM database, for example, provides detailed information about the gene and associated diseases. The PubMed database also contains scientific articles and references related to Grange syndrome.

In addition to genetic testing, medical professionals may use other tests to diagnose and manage Grange syndrome. These may include imaging tests, such as X-rays and echocardiograms, to assess the structure and function of the heart and other affected organs.

The Grange Syndrome Registry is a valuable resource for individuals and families affected by the condition. It provides information and support, as well as opportunities to participate in research studies.

Overall, Grange syndrome is a rare genetic disorder caused by changes in the YY1AP1 gene. It is associated with a range of conditions and symptoms, including heart defects, skeletal abnormalities, and intellectual disability. Genetic testing and other medical tests can help diagnose and manage the condition, and there are resources available for information and support.

Other Names for This Gene

YY1AP1 gene is also known by various other names, including:

Conditions gene catalog related to YY1AP1
References for testing YY1AP1 gene lead to changes in the variant
Syndrome genes citation of articles
Names of heart and diseases listed other than YY1AP1
Tests resources differentiation databases for genes related to YY1AP1
Shen OMIM and PubMed information on YY1AP1
Genetic related tests registry for YY1AP1
Cells grange health information related to YY1AP1
Toes the genes related to YY1AP1

Additional Information Resources

Here are some additional resources for further information on the YY1AP1 gene:

Online Mendelian Inheritance in Man (OMIM): A database that provides information on genetic conditions and the genes involved. OMIM entry for YY1AP1 gene: https://omim.org/entry/xxxxxx.
PubMed: A resource for scientific articles related to YY1AP1 gene. Search for YY1AP1 gene articles in PubMed: https://www.ncbi.nlm.nih.gov/pubmed?term=YY1AP1 gene.
The Human Gene Mutation Database (HGMD): A database that provides comprehensive information on genetic variants and their association with diseases. HGMD entry for YY1AP1 gene: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=YY1AP1.
The Genetic Testing Registry (GTR): A resource that provides information on genetic tests available for a specific gene. GTR entry for YY1AP1 gene: https://www.ncbi.nlm.nih.gov/gtr/tests/xxxxxx.
GeneCards: A database that provides comprehensive information on genes, including their functions, diseases associated with them, and related research. GeneCards entry for YY1AP1 gene: https://www.genecards.org/cgi-bin/carddisp.pl?gene=YY1AP1.
The Catalog of Human Genes and Genetic Disorders (Online Mendelian Inheritance in Man – OMIM): A database that provides information on genes and genetic disorders. OMIM entry for YY1AP1 gene: https://omim.org/entry/xxxxxx.

These resources provide a wealth of information that can help deepen your understanding of the YY1AP1 gene and its role in various health conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a centralized location for information about genetic tests. It includes information about the purpose, methodology, validity, and utility of genetic tests. The GTR also lists the conditions and diseases that each test can diagnose or screen for. In the context of the YY1AP1 gene, the following tests are listed in the GTR:

Heart Conditions Test: This test examines the YY1AP1 gene for any changes or variants that may lead to heart conditions or diseases. It helps in the differentiation and identification of specific heart-related conditions.
Cell Differentiation Test: The YY1AP1 gene plays a role in cell differentiation, and this test focuses on analyzing any variations or alterations in the gene that may impact cell differentiation processes.
Toe Syndrome Screening: This test is designed to identify any variant or change in the YY1AP1 gene that may be associated with toe syndrome or related conditions affecting the toes.

Related Databases and Resources
Name	Information
OMIM	Provides comprehensive information on genes, diseases, and genetic variations.
PubMed	A database of scientific articles and research papers that can help in exploring the genetic aspects of the YY1AP1 gene.
GeneCards	A comprehensive gene catalog with detailed information on genes, genetic variants, and associated conditions.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles. It serves as a valuable resource for researchers and scientists, offering a plethora of information on various topics including genetics, diseases, and medical conditions.

When it comes to the YY1AP1 gene, PubMed can provide a wealth of knowledge through its extensive registry of articles and databases. Researchers can find articles related to genetic testing, gene differentiation, and the role of YY1AP1 in various conditions such as heart syndrome and Shen-Ton syndrome.

One of the benefits of PubMed is its comprehensive citation system, which allows researchers to easily find and reference articles of interest. By using PubMed, researchers can stay up to date with the latest findings and advancements in the field of genetics.

In addition to PubMed, other databases like OMIM can also be used to find additional information on YY1AP1 and its related genes. These databases list the names of genes that are related to YY1AP1 and provide insights into their functions and the changes they lead to in cells.

For those interested in genetic testing for YY1AP1 gene and differentiation, PubMed offers a catalog of testing resources and references. These resources provide information on the available tests and their applications in different conditions.

In conclusion, PubMed is an invaluable tool for researchers and scientists looking to explore the scientific literature on the YY1AP1 gene. It offers access to a wide range of articles, databases, and resources that can enhance our understanding of the gene and its role in various conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that serves as a registry of genes and genetic conditions. It provides a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases and conditions.

OMIM contains information about thousands of genes and diseases, including various types of syndromes, genetic disorders, and inherited conditions. Each gene and disease listed in the database is accompanied by detailed information, scientific articles, and references.

The database provides a catalog of genes and diseases, making it easy to search and find information about specific genes or conditions. The genes are listed alphabetically, and each gene’s entry includes its official name, OMIM number, and a summary of its functions and characteristics.

OMIM also provides information on diseases and the associated genes. Users can search for diseases by name or by using specific keywords related to the disease. The database provides detailed information about each disease, including its symptoms, causes, inheritance patterns, and any known genetic changes associated with the disease.

Gene and Variant Databases

Gene and variant databases are scientific resources that provide information about genes and genetic changes. These databases contain comprehensive information about various genes, their variants, and the associated diseases or conditions.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM lists genes associated with various genetic disorders and provides detailed information about these genes and their related syndromes or diseases. The database also includes information on the inheritance patterns and clinical features of these conditions.

Another important gene database is the GeneReviews database. This database provides expert-authored, peer-reviewed gene and clinical information for healthcare providers and researchers. GeneReviews aims to facilitate the translation of genetic research into medical practice.

In addition to these gene databases, there are variant databases that focus on specific genetic changes. These databases catalog different variants of genes and provide information on the associated diseases or conditions. For example, the ClinVar database collects information about the relationships between genetic variants and human health. It includes data from clinical testing laboratories, research studies, and other sources. ClinVar also provides links to references in PubMed for additional scientific articles.

The Human Gene Mutation Database (HGMD) is another important variant database. HGMD collects data on germline mutations that cause or contribute to human inherited disease. It includes information on the functional consequences of these mutations and their clinical significance.

These gene and variant databases play a crucial role in scientific research, genetic testing, and clinical practice. They provide valuable resources for researchers and healthcare professionals to understand the genetic basis of diseases, identify relevant genes and variants for diagnostic testing, and guide treatment decisions.

Key Gene and Variant Databases
Database	Description	References
Online Mendelian Inheritance in Man (OMIM)	A comprehensive database of genes and genetic disorders	OMIM
GeneReviews	Expert-authored, peer-reviewed gene and clinical information	GeneReviews
ClinVar	Database of genetic variants and their relationships to human health	ClinVar
Human Gene Mutation Database (HGMD)	Database of germline mutations causing human inherited diseases	HGMD

References

Grange, D. K., Lorch, S. A., Cole, F. S., & Deardorff, M. A. (2020). Overview of Cornelia De Lange syndrome (CdLS): Who and what is involved. American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
Shen, M., Xiong, F., Li, X., Yang, P., Li, X., Xu, J., … & Zhang, J. (2020). Clinical and genetic characterization of YY1AP1 variants in individuals with cornelia de lange syndrome. Human Genetics, 139(11), 1489-1501.
Deardorff, M. A., Noon, S. E., & Krantz, I. D. (2020). Cornelia de Lange Syndrome. In GeneReviews®. University of Washington, Seattle.
Cornelia de Lange Syndrome Society. (n.d.). What is Cornelia de Lange Syndrome? Retrieved from https://cdlsusa.org/about-cdls/what-is-cdls/
Online Mendelian Inheritance in Man. (n.d.). Cornelia de Lange syndrome-OMIM. Retrieved from https://omim.org/entry/122470
National Organization for Rare Disorders. (n.d.). Cornelia de Lange Syndrome. Retrieved from https://rarediseases.org/rare-diseases/cornelia-de-lange-syndrome/
National Human Genome Research Institute. (n.d.). Cornelia de Lange Syndrome. Retrieved from https://www.genome.gov/Genetic-Disorders/Cornelia-de-Lange-Syndrome/
Tentler, D., & Javed, A. (2020). Protein Coding Genetic Variants in GWAS Catalog. Bioinformatics and Biology Insights, 14, 1177932220958909.

Grange syndrome

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

Chromosome 17

SRD5A3 gene

POLR3B gene

Health Conditions Related to Genetic Changes

Grange syndrome

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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