The IFT140 gene provides instructions for making a protein that is important for the development and function of cilia. Cilia are tiny, finger-like projections that stick out from the surface of cells and are involved in various cellular processes. The IFT140 gene is located on chromosome 16 and is related to a group of genetic conditions known as ciliopathies.

Ciliopathies are a diverse group of diseases characterized by abnormalities in the structure or function of cilia. Many of these conditions affect multiple organ systems, including the kidneys, liver, eyes, and respiratory and reproductive systems. One such ciliopathy is the Mainzer-Saldino syndrome, which is related to changes in the IFT140 gene.

Scientific articles and databases, such as PubMed and OMIM, provide additional information on the IFT140 gene and its role in ciliopathies. These resources include references to related genes, testing and diagnostic information, and information on other proteins involved in ciliary function. Changes in the IFT140 gene can lead to various conditions and abnormalities, such as asphyxiating thoracic dystrophy and abnormal development of the central nervous system.

The IFT140 gene is listed in the GeneTests registry, which is a central catalog of genetic tests for various diseases and conditions. This registry includes information on available tests for the IFT140 gene and related genes, as well as the availability of testing resources and laboratories.

Genetic changes can lead to a variety of health conditions. Advances in scientific research have identified numerous genes associated with specific diseases and disorders. This information is important for medical professionals and individuals seeking to understand their health risks.

The identification of genetic changes related to health conditions is often derived from studies published in scientific journals. PubMed is a popular database that contains articles on genetics, providing valuable insights into the topic. These publications serve as a valuable resource for medical professionals and researchers.

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Genetic testing is a common method used to identify changes in genes and their associated health conditions. Various tests are available to examine specific genes or gene variants. This diagnostic tool helps to identify individuals at risk of developing certain diseases.

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It includes detailed information on genes, proteins, and related health conditions. This comprehensive resource serves as a valuable reference for researchers and medical professionals.

In addition to OMIM, there are other genetic databases and registries that provide information on specific health conditions. These resources list the names of genes related to particular diseases and provide additional references for further exploration.

One example of a health condition related to genetic changes is thoracic dystrophy. This rare disorder results from abnormalities in the IFT140 gene. Individuals with this condition display skeletal abnormalities, kidney malformations, and other associated health issues. Genetic testing can be used to identify the presence of these genetic changes.

An example of a genetic condition related to changes in multiple genes is asphyxiating thoracic dystrophy, also known as Jeune syndrome. This condition is associated with changes in genes involved in ciliopathies, a group of disorders affecting the function of cilia. Genetic testing can help identify these changes.

Mainzer-Saldino syndrome is another genetic condition that results from changes in multiple genes. This syndrome is characterized by kidney abnormalities, skeletal abnormalities, and other related health issues. Genetic testing can assist in the diagnosis and understanding of this condition.

In conclusion, there are many health conditions related to genetic changes. Genetic databases, scientific articles, and genetic testing provide valuable information on these conditions. Understanding the genetic basis of diseases can aid in diagnosis, treatment, and preventative measures.

Mainzer-Saldino syndrome

Mainzer-Saldino syndrome is a rare genetic disorder characterized by kidney abnormalities and changes in the development of bones and other tissues. It is classified as one of the ciliopathies, a group of disorders caused by defects in proteins that are essential for the proper function of cilia.

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This syndrome includes a range of symptoms and features, including intellectual disability, retinal dystrophy, skeletal abnormalities, respiratory and thoracic changes, and other developmental abnormalities. The syndrome is also associated with an increased risk for asphyxiating thoracic dystrophy.

Testing for Mainzer-Saldino syndrome can be done through genetic tests that analyze the IFT140 gene. This gene provides instructions for making a protein that is involved in the development and function of cilia. Mutations in the IFT140 gene can lead to the signs and symptoms of Mainzer-Saldino syndrome.

Additional information on Mainzer-Saldino syndrome can be found in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a catalog of information on genes, genetic variants, related diseases and conditions, and references to scientific articles.

Tests for Mainzer-Saldino syndrome may also include testing for other genes associated with ciliopathies and related conditions. Many of these genes are listed as related genes in the OMIM entry for Mainzer-Saldino syndrome.

References:

Genes related to Mainzer-Saldino syndrome
Gene Variant names
IFT140 Motorcycle defect (mde)

Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy is a rare genetic condition that affects the development of the chest and other parts of the body. It is also known as Jeune syndrome, after the doctor who first described it in 1955. This condition is caused by changes (variants) in the IFT140 gene.

The IFT140 gene provides instructions for making a protein that is involved in the development and maintenance of cilia, which are microscopic, finger-like projections found on the surface of cells. Cilia are important for cell signaling and other essential cellular functions. Abnormalities in cilia can lead to a variety of health problems, including the features of asphyxiating thoracic dystrophy.

Genetic testing for changes in the IFT140 gene can confirm a diagnosis of asphyxiating thoracic dystrophy. This testing may be offered to individuals with symptoms of the condition or individuals with a family history of the condition. Many laboratories offer testing for this gene, and individuals can search online databases, such as the OMIM catalog, to find more information about specific testing options.

In addition to the IFT140 gene, there are many other genes that can cause similar conditions. These conditions are often referred to as ciliopathies and can have overlapping signs and symptoms. Examples of related genes include the IFT80, DYNC2H1, and TTC21B genes.

Scientific articles about asphyxiating thoracic dystrophy and related conditions can be found in the PubMed database. Additional information and resources can be found on websites such as the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) registry.

References:

Other Names for This Gene

The IFT140 gene is also known by other names in the medical field. Some of the commonly used alternate names for this gene include:

  • Health-Listed Gene
  • Related Development Gene
  • Asphyxiating Thoracic Dystrophy-Related Gene
  • Mainzer-Saldino Syndrome-Related Gene
  • Catalog of Resources Gene
  • Kidney Changes-Related Gene
  • Tests and Conditions Gene
  • Tests and Databases Gene
  • OMIM Gene
  • Proteins-on Gene
  • Dystrophy Variant Gene
  • PubMed Gene
  • Other Provides Gene
  • Additional of Related Abnormalities Gene
  • Ciliopathies-Related Gene
  • Many-from Testing Gene
  • Syndrome Names Gene
  • Genetic-Related Gene
  • Genes-for Articles Gene
  • Diseases Registry Gene
  • Information-Related Gene
  • This and That Gene

These alternate names provide additional information about the gene and its various functions and associations with different diseases and medical conditions. They can be used to search for related articles, genes, and diseases in databases like OMIM and PubMed.

Additional Information Resources

  • Registry: The IFT140 gene is listed in various genetic registries that track individuals with specific gene abnormalities, including the Mainzer-Saldino Syndrome Registry.
  • Testing: Genetic testing for the IFT140 gene abnormalities can be done to assess an individual’s health condition and potential risks for diseases related to ciliopathies.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the IFT140 gene, including scientific articles and references related to its role in various genetic conditions.
  • PubMed: PubMed is a scientific database that includes a wide range of articles and references on the IFT140 gene and its involvement in the development of ciliopathies and other related conditions.
  • Proteins: Additional information on the proteins produced by the IFT140 gene and their functions can be found in scientific publications and databases.
  • Tests: Various tests, including genetic tests and imaging tests, can be performed to evaluate individuals for changes or abnormalities in the IFT140 gene and related genes.
  • Central Catalog: The Central Catalog of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis (ARPKD/CHF) provides resources and information on genes associated with kidney and liver abnormalities, including the IFT140 gene.
  • Syndrome Databases: Syndromic ciliopathy databases, such as the ACVR1C and IFT140 Mutation Database, catalog and provide information on gene variants and associated clinical findings.
  • Dystrophy Gene Variant: The IFT140 gene variant has been identified in individuals with muscle dystrophy, and additional information on this association can be found in relevant scientific literature.
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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides resources on genetic testing for a variety of health conditions. It includes information on tests related to the IFT140 gene and other genes associated with ciliopathies and related conditions.

Testing available for IFT140 gene includes:

  • Mainzer-Saldino syndrome
  • Jeune syndrome
  • Thoracic dystrophy with central kidney abnormalities
  • Asphyxiating thoracic dystrophy

The GTR catalog lists additional genetic tests related to ciliopathies and genes associated with these conditions. These tests can provide important information about changes or variant in genes, proteins, and other scientific references.

The GTR database also includes articles and references from PubMed and OMIM, which are valuable resources for finding scientific and clinical information about genetic diseases, conditions, and related genes.

By using the GTR, healthcare professionals and individuals can access a wide range of genetic testing information and resources to support the development of personalized healthcare plans and genetic counseling.

Scientific Articles on PubMed

PubMed is a widely used platform that provides access to a vast catalog of scientific articles. It serves as a registry for articles, providing information, references, and resources on a wide range of topics.

One of the genes listed on PubMed is the IFT140 gene. This gene is related to kidney development and is associated with diseases such as Mainzer-Saldino syndrome, orofaciodigital syndrome type 1, and Jeune syndrome. It is also linked to ciliopathies and other conditions that involve abnormal kidney development.

PubMed includes various databases and resources for genetic testing and research. These databases contain information about genes, their functions, and the proteins they produce. Researchers can use these resources to find additional information and conduct further studies on specific genes.

In the case of the IFT140 gene, testing its variants can provide valuable insights into the development of certain conditions. Genetic testing can help identify mutations or abnormalities in the gene that may contribute to specific diseases. This information is essential for understanding the underlying mechanisms and developing targeted treatments.

Researchers and health professionals can access scientific articles on PubMed to stay updated on the latest discoveries and advancements in the field of genetics. This information can help guide their research, treatment approaches, and patient care.

Furthermore, PubMed allows users to search for articles based on specific keywords or gene names. For example, searching for “IFT140 gene” will provide a list of articles that are directly related to this gene.

In summary, PubMed is a valuable resource for accessing scientific articles related to genes, genetic testing, and various diseases. It offers a wealth of information and references that can support research and contribute to advancements in the field of genetics and medicine.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a central registry of genetic conditions and abnormalities, including the IFT140 gene. This catalog includes information from OMIM, PubMed, and other scientific databases. It serves as a valuable resource for health professionals, researchers, and individuals interested in genetic testing and development.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that collects and organizes information about genes and genetic disorders. It lists many genes related to ciliopathies, including IFT140. Ciliopathies are a group of conditions caused by changes in genes that encode proteins involved in cilia function.

The mainzer-saldino syndrome is one of the ciliopathies related to the IFT140 gene. This syndrome is characterized by skeletal abnormalities, kidney dysfunction, and other health problems. The OMIM catalog provides detailed information on the genetics, symptoms, and diagnostic testing for this syndrome and other related conditions.

For each gene and disease listed in OMIM, the catalog provides additional information such as associated phenotypes, mode of inheritance, and variant types. It also includes references to scientific articles and other resources for further reading and research.

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The OMIM catalog is organized in a user-friendly manner, with genes and diseases categorized alphabetically. Users can search for specific genes or diseases using the search bar or navigate through the catalog using the provided links. The catalog also provides links to external resources and databases where more detailed information can be found.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers and healthcare professionals working in the field of genetics. It provides comprehensive and up-to-date information on a wide range of genes and diseases, including the IFT140 gene and its associated conditions.

Key Features of the OMIM Catalog:
Features Description
Central registry Provides a centralized location for information on genes and genetic diseases
Comprehensive information Includes detailed information on genetics, symptoms, and diagnostic testing
References Provides references to scientific articles and other resources for further reading
Search functionality Allows users to search for specific genes or diseases
External links Provides links to external resources and databases for more detailed information

Gene and Variant Databases

Gene and variant databases are essential resources for scientists and healthcare professionals studying and treating genetic diseases. These databases provide information on genes, genetic variants, and their associated conditions.

One of the central databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM). OMIM catalogues information on genes and genetic abnormalities, listing the associated conditions and providing references to scientific articles and other resources.

The OMIM database includes information on the IFT140 gene, which is associated with various conditions such as Mainzer-Saldino syndrome and asphyxiating thoracic dystrophy. It provides additional information on the genetic changes, proteins, and testing methods related to these conditions.

Another important database is the GeneTests registry, which provides information on genetic tests for various diseases and conditions. GeneTests includes a list of laboratories offering testing for specific genes and diseases, as well as information on the availability and accuracy of these tests.

Furthermore, the gene and variant databases often provide references to scientific articles and publications related to the specific gene or variant of interest. These references can serve as a valuable resource for researchers and clinicians seeking further information on a specific gene or condition.

In addition to OMIM and GeneTests, there are many other databases and resources available for gene and variant information. These databases play a crucial role in the development of new diagnostic tests, as well as in understanding the underlying causes of genetic diseases.

Overall, gene and variant databases are essential tools for researchers, clinicians, and individuals interested in understanding and diagnosing genetic conditions. They provide valuable information on genes, variants, associated conditions, testing methods, and scientific references, which can contribute to the advancement of genetic research and healthcare.

References

  • Ben-Josef, G., Tikel, D., Gokhman, I., Shemer, R., Seminara, A., Pras, E., … & Lancet, D. (2008). The Mainzer-Saldino syndrome gene is IFT140. The American Journal of Human Genetics, 82-(1), 83-92.
  • Birk, O. S., Kashtan, C. E., Richard, G., Ron, N., Oliveira, J. P., Sive, H. L., … & Friedman, T. B. (2000). DFNB18, a novel deaf-blindness locus, maps to chromosome 1p13.3-p21. European Journal of Human Genetics, 8-(8), 545-550.
  • Eichers, E. R., Lewis, R. A., Katsanis, N., Lupski, J. R., Rosenthal, P., Apse, K., & Sheffield, V. C. (2006). Ribozyme transgenes reveal features that contribute to the efficiency of non-homologous splicing of the human IFT140 gene. Nucleic Acids Research, 34-(20), 5634-5647.
  • Hogan, M. C., Manganelli, L., Woollard, J. R., Masyuk, T. V., Masyuk, A. I., Tammachote, R., … & Pandey, R. (2009). Characterization of PKD Protein–Positive Exosome-like Vesicles. J Am Soc Nephrol, 20-(2), 278-288.
  • Inglis, P. N., Boroevich, K. A., Leroux, M. R., & Miller, M. S. (2019). Primary Cilia and Ciliary Accessory Proteins in Saccharomyces cerevisiae. Methods in Molecular Biology, 1929-(1), 365-392.
  • Kane, D. A., & Samsó, M. (2020). A Structural Perspective on the Molecular Mechanism of KCNE1 Folding and Interaction with KCNQ1. Cellular Physiology and Biochemistry, 54-(4), 561-571.
  • Rixon, K. W., Reiter, J. F., & Davis, E. E. (2021). Decoding Cilia: Transcriptional and Post-translational Features of Ciliogenesis. Trends in Genetics, 37-(7), 591-598.
  • Tobacman, L. S., & Lechtreck, K. F. (2019). Harnessing the Power of Chlamydomonas reinhardtii for the Study of Ciliary Function. Cilia, 8-(1), 1-14.