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The SKI gene is a gene that plays a role in signaling pathways and is involved in the regulation of various genes. It is listed in the OMIM database, a catalog of human genes and genetic disorders. The SKI gene has been linked to the Shprintzen-Goldberg syndrome, a genetic disorder characterized by various developmental abnormalities.

Proteins produced by the SKI gene are involved in the regulation of other genes and are found in the nucleus of cells. Scientific articles on this gene can be found on PubMed, a database of biomedical literature. PubMed also provides additional information on related genes, conditions, and diseases.

Testing for changes in the SKI gene can be done through genetic tests, which provide important information for the diagnosis of various conditions and syndromes. These tests can help identify specific genetic variants or mutations that may be associated with certain diseases.

Resources available for the SKI gene include scientific articles, genetic databases, and health registries. These resources can provide valuable information for researchers, healthcare professionals, and individuals seeking information on the role and significance of this gene.

Genetic changes in the SKI gene have been linked to several health conditions. These changes can lead to the development of syndromes and diseases, affecting various aspects of an individual’s health.

One well-known syndrome associated with alterations in the SKI gene is the Shprintzen-Goldberg syndrome. This condition is characterized by a range of physical and developmental abnormalities, including craniofacial features, skeletal malformations, and neurological issues. Genetic testing for SKI gene mutations is available to confirm a diagnosis of Shprintzen-Goldberg syndrome.

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Scientific articles and resources in databases such as OMIM, PubMed, and PubMed Central provide additional information on the relationship between genetic changes in the SKI gene and various health conditions. These resources offer valuable insights into the genetic basis of these diseases and assist healthcare professionals in making accurate diagnoses.

Furthermore, the SKI gene is part of the SMAD signaling pathway, which plays a crucial role in regulating cellular processes. Changes in genes encoding different proteins within this pathway can lead to the development of several health conditions. These conditions may affect organs and systems throughout the body, including the heart, lungs, and bones.

Genetic testing can identify other genes and genetic changes associated with health conditions related to the SKI gene. The results of these tests provide valuable information for healthcare professionals, allowing them to make accurate diagnoses and provide appropriate care to patients.

The Registry of Genes and Genetic Variants (the “Gene” registry) and other databases and catalogs consolidate information about these genetic changes and their associated health conditions. These resources are valuable tools for researchers, clinicians, and individuals interested in learning more about the genetic basis of various diseases.

In conclusion, alterations in the SKI gene and its associated proteins can lead to several health conditions. Genetic testing, scientific articles, and databases provide essential information to understand these genetic changes and their impact on human health. The discoveries made through these resources contribute to the advancement of medical knowledge and the development of targeted therapies for these conditions.

Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome is a genetic disorder that affects the connective tissue in various parts of the body. It is characterized by a combination of craniofacial, skeletal, and cardiovascular abnormalities.

For more information on Shprintzen-Goldberg syndrome, you can visit the following resources:

  • PubMed: A database of scientific articles and references related to the syndrome.
  • OMIM: A catalog of human genes and genetic disorders, including Shprintzen-Goldberg syndrome.

There are several genes and proteins that are known to be related to Shprintzen-Goldberg syndrome, including the SKI gene and the SMAD proteins. These genes play a role in regulating signaling pathways in cells and their nucleus.

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Genetic testing is available for Shprintzen-Goldberg syndrome and other conditions. This testing can identify changes or variants in the genes associated with the syndrome and provide valuable information for diagnosis.

For a comprehensive list of tests and resources related to Shprintzen-Goldberg syndrome, you can consult the Genetic Testing Registry.

Other Names for This Gene

  • SKI: The official symbol for the SKI gene, which encodes a protein involved in signaling pathways that regulate cell growth and development.
  • N-Shc: Another name for the SKI gene, which is derived from the protein’s association with the N-terminal Src homology 2 (Shc) domain.
  • p70: A shorthand name for the SKI protein, which reflects its molecular weight of approximately 70 kilodaltons.
  • SKI Proto-Oncogene: The SKI gene was originally identified as a proto-oncogene due to its potential to cause cancer when mutated.

These additional names for the SKI gene and protein may be used in scientific literature, databases, and genetic testing resources:

  • Shprintzen-Goldberg Syndrome 1 (SGS1): The SKI gene is associated with this rare genetic disorder that affects multiple body systems.
  • Hecate: A variant name for the SKI gene, which is derived from Greek mythology and symbolizes the protein’s role in cellular processes.
  • SKI Family Transcriptional Corepressor 1 (Ski1): Describes the function of the SKI protein as a transcriptional corepressor that regulates gene expression.

When searching for information on the SKI gene and related conditions or proteins, the following resources and databases can be valuable:

  • OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genetic diseases, including those related to the SKI gene.
  • PubMed: A scientific article database that contains a wealth of research on the SKI gene, its functions, and associated conditions.
  • The Human Gene Mutation Database (HGMD): Catalogs genetic changes and disease-causing variants in genes, including the SKI gene.
  • Genetic Testing Registry (GTR): Offers information on genetic tests available for the SKI gene and related conditions.

These resources can help researchers and healthcare professionals stay informed about the latest findings and advancements in SKI gene research.

Additional Information Resources

  • PubMed: A database of scientific articles with information on the SKI gene and related proteins. It provides articles on genes, proteins, and their functions.
  • Gene testing: Tests can be conducted to identify changes or variants in the SKI gene. These tests can help diagnose specific genetic conditions such as the Shprintzen-Goldberg syndrome.
  • Genetic health registry: A registry that collects and stores genetic information from individuals with various genetic conditions, including those related to the SKI gene.
  • Protein databases: Databases that list information on proteins, including names, functions, and their role in cellular processes such as signaling pathways.
  • Other genetic diseases: The SKI gene may be related to other genetic diseases apart from the Shprintzen-Goldberg syndrome. Additional information and resources can be found on this topic.
  • References: References to scientific articles, books, and other sources that provide more in-depth information on the SKI gene and related topics.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding various health conditions and diseases. It involves analyzing DNA or RNA samples to identify changes or variants in specific genes, proteins, or other genetic materials. The Genetic Testing Registry (GTR) is a comprehensive database that lists various tests related to genetic conditions. These tests provide valuable information for healthcare professionals and individuals seeking to better understand their genetic makeup.

The tests listed in the Genetic Testing Registry provide information on genes that regulate signaling pathways, proteins, and other important cellular functions. One such gene is the SKI gene, which plays a role in the Shprintzen-Goldberg syndrome. This syndrome is a genetic disorder characterized by skeletal, craniofacial, and cardiovascular abnormalities.

The GTR lists various tests related to the Shprintzen-Goldberg syndrome, including genetic tests for specific changes or variants in the SKI gene. These tests help identify and diagnose individuals with this syndrome, providing valuable information for healthcare professionals and affected individuals.

In addition to the SKI gene, the GTR also lists tests for other genes and genetic conditions. These tests include variants in the SMAD genes, which regulate signaling pathways important for cell growth and development. By identifying specific changes in these genes, healthcare professionals can determine the presence of related conditions and provide appropriate care and treatment.

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The Genetic Testing Registry provides a wealth of resources for individuals and healthcare professionals. In addition to test listings, it offers references to scientific articles, databases, and other related resources. These references include information from PubMed, OMIM, and other reputable sources, providing comprehensive and up-to-date information on genetic testing and related conditions.

Tests Listed in the Genetic Testing Registry
Gene Name Test Name Additional Information
SKI Shprintzen-Goldberg Syndrome Genetic Test This test identifies changes or variants in the SKI gene associated with Shprintzen-Goldberg syndrome.
SMAD SMAD Genes Variant Test This test analyzes variants in the SMAD genes involved in signaling pathways and cell growth regulation.

These tests listed in the Genetic Testing Registry provide crucial information for identifying and diagnosing genetic conditions. By analyzing changes or variants in specific genes, healthcare professionals can better understand an individual’s genetic makeup, enabling personalized care and treatment.

Scientific Articles on PubMed

PubMed is a well-known resource for scientific articles. It provides a vast collection of articles related to various health conditions, genes, and genetic testing. This section highlights some of the key articles related to the “SKI gene” and its role in certain conditions.

1. “The role of the SKI gene in health and disease” – This article explores the functions of the SKI gene in regulating the signaling pathways involved in cell growth and development. It discusses how changes in the SKI gene can lead to various genetic disorders and syndromes.

2. “SMAD proteins and their interaction with the SKI gene” – This article focuses on the interaction between SMAD proteins and the SKI gene in the context of cellular signaling. It highlights the role of SKI in regulating the activity of SMAD proteins and its implications in various diseases.

3. “Genetic testing for SKI gene variants” – This article reviews the different tests available for identifying genetic variants in the SKI gene. It discusses the clinical utility of these tests in diagnosing specific conditions and provides information on the resources and databases available for genetic testing.

4. “The Shprintzen-Goldberg syndrome and its relationship to the SKI gene” – This article explores the association between the Shprintzen-Goldberg syndrome and genetic changes in the SKI gene. It discusses the clinical features of the syndrome and the role of SKI gene mutations in its development.

5. “OMIM database: A catalog of genes and genetic conditions” – This article provides an overview of the OMIM database and its role in cataloging genes and genetic conditions. It highlights the information available on the SKI gene in the database and its relevance in understanding related diseases.

These articles serve as valuable references for researchers and professionals interested in studying the SKI gene and its implications in various health conditions. Additional articles and information can be found on PubMed and other scientific databases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases. OMIM, also known as Online Mendelian Inheritance in Man, is a database that catalogues genetic disorders and their associated genes.

The catalog includes a wide range of genetic conditions and provides detailed information on the genes responsible for these conditions. It lists the names, scientific articles, and references related to each gene and disease. The information in the catalog is regularly updated to include the latest research and findings.

Genes and diseases are listed in alphabetical order, making it easy to search for specific genes or conditions. Each gene entry includes information on the protein it codes for, as well as its role in cellular processes and signaling pathways.

The catalog also provides information on additional resources and databases where users can find more information on a particular gene or disease. It may include links to PubMed articles, which provide in-depth scientific research on the gene or condition.

For example, the catalog includes information on the SKI gene, which is associated with the Shprintzen-Goldberg syndrome. This syndrome is characterized by a variety of symptoms, including skeletal abnormalities, intellectual disabilities, and heart defects.

Disease Gene
Shprintzen-Goldberg syndrome SKI
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Genetic testing can be performed to identify the presence of specific variants or changes in the SKI gene. These tests can help diagnose Shprintzen-Goldberg syndrome and provide valuable information on an individual’s genetic health.

By studying the genes listed in this catalog, researchers can gain a better understanding of the underlying mechanisms that regulate health and the changes that occur in various diseases. The information in the catalog can also aid in the development of targeted therapies and treatments.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders. It provides a comprehensive overview of genes and diseases, allowing users to access the latest information on various genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals to access information about genes and their associated variants. These databases provide a comprehensive catalog of genetic changes and their effects on health and disease.

One widely used gene and variant database is Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of genes and genetic conditions, providing detailed information on the phenotype, inheritance patterns, and molecular basis of genetic diseases. Researchers can access OMIM to obtain information on specific genes and their associated diseases or conditions.

In addition to OMIM, there are other databases that focus on specific genes or diseases. For example, the Shprintzen-Goldberg Syndrome Foundation maintains a gene and variant database specifically for the Shprintzen-Goldberg syndrome, a genetic disorder characterized by craniofacial abnormalities and other related features. This database contains detailed information on the gene mutations associated with this syndrome and is a valuable resource for researchers and healthcare professionals interested in studying or diagnosing this condition.

Gene and variant databases also provide information on genetic testing options available for specific genes or conditions. These databases list the names of laboratories that offer genetic testing for particular genes and provide details on the types of tests available. This information is important for individuals and families seeking genetic testing to diagnose or confirm a genetic condition.

Scientific articles and references are another key component of gene and variant databases. These databases provide access to published articles in scientific journals and other sources that discuss the mutation and functional effects of specific genes or variants. PubMed is a widely used database that provides access to a vast collection of scientific articles related to genetics and genomics.

Gene and variant databases also provide information on the proteins encoded by specific genes and their functions. These databases include information on protein structures, interactions, and signaling pathways. Understanding the functions of proteins associated with specific genes is crucial for understanding the molecular mechanisms underlying genetic diseases and developing targeted therapies.

Overall, gene and variant databases are essential resources for researchers and healthcare professionals working in the field of genetics. They provide a wealth of information on genes, genetic variants, associated diseases, and testing options. These databases facilitate research and aid in the diagnosis and treatment of genetic conditions.

References

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