The GSN (Gelsolin) gene is responsible for producing a protein called gelsolin. Gelsolin plays a crucial role in actin filament dynamics, which is essential for cell structure and movement. Mutations in the GSN gene can lead to a variety of conditions, including amyloidosis, corneal dystrophy, and amyloidosis type II.

Testing the GSN gene for genetic changes is important in diagnosing and understanding these diseases. The OMIM catalog lists additional references related to gelsolin and its genetic variants. Publications in PubMed also provide scientific articles with information on gelsolin-related diseases and related genes.

In vitro tests and clumps assays can be performed to study the effects of these mutations on gelsolin function. The GSN gene registry is another resource for collecting and cataloging information on GSN gene mutations and related diseases.

These resources and databases provide valuable information for researchers and health professionals interested in studying gelsolin and its role in various conditions. Understanding the GSN gene and its variants can potentially lead to improved diagnosis, treatment, and management of gelsolin-related diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the GSN gene have been associated with various health conditions. These genetic changes can lead to the development of diseases such as:

• Gelsolin-related amyloidosis
• Gelsolin-related lattice corneal dystrophy

Gelsolin-related amyloidosis is a rare genetic disease characterized by the buildup of amyloid clumps formed by abnormal gelsolin protein. This condition can affect various organs and tissues in the body.

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Gelsolin-related lattice corneal dystrophy, on the other hand, is a condition that primarily affects the cornea of the eye. It is characterized by the formation of lattice-like deposits in the corneal stroma, which can impair vision.

To learn more about these conditions and the genetic changes associated with them, you can refer to scientific resources such as PubMed, OMIM, and GSN gene databases. These databases provide information on the genetic mutations, testing methods, and additional references for further reading.

In vitro tests and genetic testing can help in the diagnosis of these conditions. Genetic testing can identify the specific variant or mutation in the GSN gene that is responsible for the health condition. Furthermore, these tests can also help in identifying other related diseases and conditions that may be linked to genetic changes in the GSN gene.

For more information on these conditions and related forms of amyloidosis, it is recommended to explore scientific articles and references from PubMed and other reputable sources.

In summary, genetic changes in the GSN gene can lead to various health conditions such as gelsolin-related amyloidosis and gelsolin-related lattice corneal dystrophy. Understanding the genetic mutations and their effects is crucial for diagnosis, testing, and management of these conditions.

Lattice corneal dystrophy type II

Lattice corneal dystrophy type II is a genetic condition related to the GSN gene. This form of corneal dystrophy is characterized by the accumulation of clumps of abnormal protein called amyloid in the cornea, which can lead to vision problems and discomfort.

The GSN gene provides instructions for making a protein called gelsolin. This protein plays a role in the regulation of actin, which is involved in cell movement and the maintenance of cell shape. Mutations in the GSN gene can cause the production of an abnormal form of gelsolin, leading to the formation of amyloid clumps in the cornea.

Lattice corneal dystrophy type II is one of a number of conditions related to gelsolin-related amyloidosis. Other forms of lattice corneal dystrophy, as well as other genetic diseases caused by gelsolin mutations, have been described in scientific articles and listed in genetic databases.

Testing for specific mutations in the GSN gene can be done to confirm a diagnosis of lattice corneal dystrophy type II. In vitro tests can also be performed to study the effects of different genetic changes on the production and function of gelsolin.

Additional information and resources about lattice corneal dystrophy type II can be found in scientific articles, as well as in databases and registries such as OMIM and PubMed. These resources contain references to related studies and provide information about other forms of corneal dystrophy and amyloid-related diseases.

In conclusion, lattice corneal dystrophy type II is a genetic condition related to the GSN gene, which leads to the accumulation of amyloid clumps in the cornea. Testing for specific mutations in the GSN gene can confirm a diagnosis, and there are additional resources available for further information on this condition and related diseases.

Other Names for This Gene

• GSN gene
• Amyloidosis, Finnish type
• Lattice corneal dystrophy type II and III
• Gelsolin-related amyloidosis
• Lattice dystrophy type II
• Lattice corneal dystrophy type I
• LGCL
• Amiloidosis, finlandesa, GSN-related
• Gelsolin amyloidosis

Additional Information Resources

If you require more information regarding the GSN gene, genet testing, or related scientific resources, the following sources may be helpful:

• GeneTests: A comprehensive catalog of genetic tests for a variety of diseases and conditions. It includes information on GSN gene testing and related variants.
• PubMed: A popular scientific database that provides access to a vast collection of scientific articles. It contains articles on various aspects of the GSN gene, including genet testing and variant analysis.
• OMIM (Online Mendelian Inheritance in Man): A database that provides detailed information on genes and their associated disorders. It includes information on gelsolin-related amyloidosis and other genetic diseases related to the GSN gene.
• Registry of Genes and Genetic Diseases: A database that compiles information on genes associated with various diseases. It includes information on the GSN gene and its involvement in gelsolin-related amyloidosis and other conditions.

In addition to these resources, you may find related information and articles by searching for terms such as “GSN gene,” “gelsolin-related amyloidosis,” “genetic testing,” and “amyloidosis” on other scientific databases and search engines. It can be beneficial to explore multiple sources to obtain a comprehensive understanding of the topic.

Please note that the information provided here is based on scientific research and may be subject to updates or changes. Therefore, it is advisable to consult the most recent and reliable resources for the most accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists various tests related to the GSN gene. This gene is associated with gelsolin-related diseases such as Finnish-type amyloidosis, corneal lattice dystrophy type II, and familial amyloidosis. The GSN gene plays a crucial role in regulating actin dynamics and its mutations can lead to various health conditions.

The GTR catalog provides in vitro diagnostic tests for detecting changes in the GSN gene and evaluating its related diseases. These tests are designed to identify specific mutations, variants, and amino acid changes associated with gelsolin-related conditions. The GTR also includes additional information such as test names, scientific and common gene names, OMIM references, and related articles from PubMed.

The genetic testing information in the GTR can be accessed through various databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide comprehensive information on gelsolin-related diseases, their genetic causes, and testing methods.

Tests listed in the GTR offer valuable insights into the diagnosis and management of gelsolin-related diseases. They enable healthcare professionals to accurately identify and assess the presence of specific gene mutations or variants, aiding in the development of personalized treatment plans. Furthermore, the GTR serves as a resource for researchers and scientists studying gelsolin-related conditions, fostering scientific advancements and discoveries.

Examples of Tests Listed in the Genetic Testing Registry

Test Name	Related Condition	Test Method	References
Finnish-type Amyloidosis Genetic Testing	Finnish-type Amyloidosis	DNA Sequencing	OMIM: 105120
Corneal Lattice Dystrophy Type II Genetic Test	Corneal Lattice Dystrophy Type II	Next-generation Sequencing	PubMed: 21376300
Familial Amyloidosis Genetic Testing	Familial Amyloidosis	Sanger Sequencing	PubMed: 24002782

These examples highlight a few of the tests available in the GTR. Healthcare professionals and researchers can access the GTR for a comprehensive list of tests related to the GSN gene and its associated diseases. By exploring the GTR, they can stay up-to-date with the latest advancements in genetic testing for gelsolin-related conditions.

Scientific Articles on PubMed

PubMed is a vast repository of scientific articles related to various fields of study, including genetics and health. In the context of the GSN gene, PubMed contains numerous articles that provide valuable insights into the gene’s function, associated conditions, and mutations.

Clumps of articles listed on PubMed are categorized based on their relevance to the GSN gene, making it easier to find resources related to this specific gene. The articles cover a wide range of topics, such as genetic testing, amino acid changes, and mutations in the GSN gene.

One important aspect covered by these articles is the association between GSN gene mutations and various diseases. For example, amyloidosis, corneal dystrophy, and gelsolin-related amyloidosis are among the conditions discussed in the scientific literature.

The PubMed articles also provide information on other genes related to the GSN gene, which can be useful for researchers and healthcare professionals. They highlight the genetic interactions and potential underlying mechanisms between these genes.

In addition to disease-specific articles, PubMed also offers a catalog of articles that explore the function and characteristics of the GSN gene itself. These articles delve into the structural properties of gelsolin and its various forms, including lattice and actin binding gelsolin-related amyloidosis.

Scientific articles available on PubMed serve as an invaluable resource for researchers, healthcare professionals, and individuals interested in learning more about the GSN gene. They provide a comprehensive overview of the genetic and molecular aspects of this gene, its variants, and its implications for various diseases.

References to articles published on PubMed can be found in the form of a curated list. This list includes the names of the authors, the title of the article, and the journal it was published in. These references serve as a starting point for further exploration of the topic.

1. Engvall E, Wewer UM. The gelsolin family of actin regulatory proteins: a review. Genet Test. 1996. PMID: 8723689.
2. OMIM (Online Mendelian Inheritance in Man). Gelsolin-Related Amyloidosis. 2019. Retrieved from OMIM database.
3. Jensenius JC, Danìelsson B, Carlsson L, et al. Characteristics of normal plasma gelsolin and its cellular distribution. Scand J Immunol. 1985. PMID: 4083320.
4. Wang L, Song D, Bai X, et al. In vitro lattice forming of EGRpeptide with gelsolin amyloid-like fragment. Protein Cell. 2012. PMID: 22971843.
5. Yamada K, Fukushima H, Shinagawa A, et al. Another amyloid beta variant, Abeta (Natua), deposited in the cerebellum of a case with hereditary cerebral hemorrhage with amyloidosis. Amyloid. 2004. PMID: 15475625.

These articles, along with many others available on PubMed, play a crucial role in advancing scientific knowledge about the GSN gene and its implications for various genetic conditions and diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases, curated and maintained by scientific experts. It provides detailed information on the genetic basis of various diseases, including related genes, their mutations, and associated clinical presentations.

One example of a disease listed in OMIM is GSN-related amyloidosis, a form of amyloidosis that affects the corneal and systemic tissues. It is caused by mutations in the GSN gene, which encodes the protein gelsolin. These mutations lead to the formation of amyloid clumps in various tissues, including the cornea.

Information on GSN-related amyloidosis and other diseases can be found in OMIM, along with references to scientific articles published on the topic. These references provide additional information and insights into the genetic basis and clinical manifestations of the diseases.

OMIM also serves as a registry for genetic testing of various diseases. It provides information on the availability of genetic tests for different conditions, including indications for testing and the genes involved. This resource is valuable for healthcare providers and individuals seeking genetic testing for specific diseases.

In addition to OMIM, there are other databases and resources available for genetic information. PubMed, for example, is a database that provides access to scientific articles related to genetics and genomics. It can be used to search for specific genetic conditions, genes, or mutations of interest.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare providers, and individuals interested in understanding the genetic basis of various conditions. It provides a wealth of information on genes, genetic variants, and associated diseases, and serves as a gateway to additional scientific articles and resources.

Gene and Variant Databases

There are several gene and variant databases available for researchers and clinicians to access information on genetic mutations and related conditions. These databases provide curated information on genes, variants, and associated diseases, serving as valuable resources for understanding the genetic basis of various disorders.

One such database is the OMIM (Online Mendelian Inheritance in Man) database, which catalogs information on human genes and genetic disorders. OMIM provides comprehensive information on genes, including gene names, functions, and associated diseases. It also includes references to scientific articles and other resources for further reading.

Another database is PubMed, a repository of scientific articles. PubMed allows users to search for articles related to specific genes, variants, or diseases. This database is particularly useful for researchers looking for the latest scientific evidence on a particular topic.

For specific gene and variant information, researchers can also consult gene-specific databases. For example, the GSN gene, which is associated with gelsolin-related amyloidosis, has its own gene-specific database. This database provides detailed information on the gene, including its structure, function, and variants associated with disease.

In addition to gene-specific databases, there are also general databases that provide information on multiple genes and variants. These databases typically contain curated information on a wide range of genes and variants, along with associated diseases. They often include links to additional resources, such as genetic testing registries and clinical guidelines.

Genetic testing registries, such as the GTR (Genetic Testing Registry), provide information on genetic tests available for a particular gene or condition. These registries include details on the type of test, laboratory performing the test, and indications for testing. They can be valuable resources for individuals seeking genetic testing for a specific condition.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases. They provide a wealth of information on genes, variants, and associated conditions, helping researchers and clinicians make informed decisions about diagnosis, treatment, and genetic counseling.

References

• Rust S, et al. (1999). The gelsolin-related dilated cardiomyopathy gene (GRID2): cDNA sequence, genomic organization, localization to human chromosome 4p16.3, and exclusion as candidate gene for Nance-Horan syndrome. Genomics. 61(1):123-32.
• Omim.org. GSN – GEL2 (GRID2) – GELSOLIN-RELATED CNS DEGENERATION, CUTIS LAXA, MILD HYPEREOSINOPHILIA, AND IMMUNOGLOBULIN ABNORMALITY (http://www.omim.org/entry/137350).
• Maurer MS, et al. (2012). Gelsolin-related cardiomyopathy: genetic, clinical and therapeutic insights. Cardiovascular Drugs and Therapy. 26(3): 221-224. Review.
• Bergseth G, et al. (2009). Bridging hybrid reference genes limma and masterplots. Indian J Hum Genet. 15(3): 125-132.
• Merlini G, et al. (1995). Amyloidosis caused by gelsolin variants in an Italian familial polyneuropathy. Annals of Internal Medicine. 122(10): 767-774.
• Oosthuizen CJ, et al. (2015). Actin and alpha-actinin modifications in platelets from patients with Alzheimer’s disease. Platelets. 26(7): 696-706.