The MMP14 gene, also known as membrane-type matrix metalloproteinase 14, is a genetic element that plays a crucial role in various diseases and cellular processes. This gene is involved in tissue remodeling, and its mutations have been linked to several health conditions.

Testing for the presence of mutations in the MMP14 gene can help diagnose and understand different diseases. Genetic tests can detect changes in this gene and provide valuable information for health professionals and researchers.

There are several resources available for studying the MMP14 gene. PubMed is a widely used database that contains scientific articles and references related to this gene. OMIM is another resource that provides a comprehensive catalog of genetic information, including names, registry numbers, and links to other databases.

In addition to the information provided by these databases, there are also scientific articles and publications that discuss the role of the MMP14 gene in specific diseases and conditions. One example is Winchester syndrome, a rare genetic disorder characterized by skeletal abnormalities. Studies have identified mutations in the MMP14 gene as a cause of this syndrome.

Overall, the MMP14 gene is an important genetic element involved in various cellular processes and diseases. Testing for mutations in this gene and studying its role can provide valuable insights into health conditions and contribute to scientific advancements.

Genetic changes in the MMP14 gene, which encodes for a metalloproteinase, have been associated with various health conditions. Metalloproteinases are enzymes involved in the remodeling and degradation of the extracellular matrix, and alterations in their activity can disrupt normal cellular processes.

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Some of the health conditions related to genetic changes in the MMP14 gene include:

  • Syndromes: Certain variants in the MMP14 gene have been linked to syndromes characterized by specific clinical features. These syndromes may affect various organ systems and have distinct names. Testing for these variants can be useful in diagnosing the syndrome and providing appropriate medical care. References to these syndromes can be found in scientific articles, as well as in databases such as PubMed and OMIM.
  • Diseases: In addition to syndromes, genetic changes in the MMP14 gene have also been associated with certain diseases. These diseases may have a broader range of clinical manifestations and may not necessarily be classified as syndromes. Information about these diseases and their genetic associations can be found in medical resources and databases, such as PubMed, OMIM, and other scientific literature.
  • Cell membrane remodeling: The MMP14 gene plays a role in cell membrane remodeling, which is essential for cell migration, tissue repair, and other cellular functions. Genetic changes in this gene can disrupt the normal remodeling process and contribute to various health conditions.

To identify genetic changes in the MMP14 gene, individuals can undergo genetic testing. These tests can detect specific variants or mutations in the gene and provide information about their potential health implications. Genetic testing may be recommended for individuals with specific symptoms or a family history of related health conditions.

Additional information and resources on the MMP14 gene and genetic changes related to health conditions can be found in various databases and registries. Resources such as PubMed and OMIM provide comprehensive catalogs of scientific articles, genetic variants, and associated diseases. These resources can be valuable for researchers, healthcare professionals, and individuals seeking information on specific genetic changes and their health implications.

Winchester syndrome

Winchester syndrome, also known as MMP14 gene variant, is a rare genetic syndrome characterized by skeletal abnormalities and joint stiffness. It falls under the category of skeletal dysplasias, which are a group of conditions caused by changes in genes related to bone and cartilage development.

See also  SCN8A gene

The MMP14 gene, located on chromosome 14, provides instructions for making a protein called matrix metalloproteinase 14. This protein plays a role in the remodeling of the extracellular matrix, a network of proteins and other molecules that support the structure of cells and tissues.

Individuals with Winchester syndrome have a variant in the MMP14 gene that disrupts the normal function of matrix metalloproteinase 14. This variant leads to a build-up of certain molecules in the extracellular matrix, causing abnormalities in bone and cartilage development.

Winchester syndrome is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene – one from each parent. Carriers of the mutated gene, who have one normal and one mutated copy, do not typically show symptoms of the syndrome.

The symptoms and severity of Winchester syndrome can vary widely among affected individuals. Common features include short stature, joint stiffness, limited range of motion, skeletal deformities, and abnormal bone growth. These abnormalities can cause difficulties in movement and can impact an individual’s quality of life.

Diagnosis of Winchester syndrome is typically made based on clinical features, imaging studies, and genetic testing. Genetic testing can detect mutations in the MMP14 gene, confirming the diagnosis. Additional tests, such as bone scans or joint fluid analysis, may be performed to assess the extent of skeletal and joint abnormalities.

Currently, there is no cure for Winchester syndrome. Treatment is focused on managing symptoms and improving quality of life. This may involve physical therapy, pain management, joint surgeries, and assistive devices to aid movement.

Genetic counseling can be helpful for families affected by Winchester syndrome. It can provide information about the inheritance pattern of the syndrome, the chance of passing it on to future children, and available testing options.

For additional information on Winchester syndrome, including scientific articles, genetic testing resources, and support organizations, refer to the following databases and registries:

  • OMIM (Online Mendelian Inheritance in Man) database
  • PubMed (a database of scientific articles)
  • Genetic testing registries
  • Health resources related to Winchester syndrome

Other Names for This Gene

  • membrane metalloproteinase 14
  • MMP-14
  • MMP-X1
  • MT1-MMP
  • fibroblast activation protein alpha
  • CSC-5D6 antigen
  • CD156c antigen

This genetic gene is listed under different names in scientific resources. The MMP14 gene is also known as membrane metalloproteinase 14, MMP-14, MMP-X1, MT1-MMP, fibroblast activation protein alpha, CSC-5D6 antigen, and CD156c antigen. These names are used to refer to this gene in various scientific studies, databases, and articles.

Understanding the multiple names associated with this gene is important for genetic testing, as it helps ensure accurate interpretation of test results and the identification of genetic changes related to this gene. This gene is involved in the remodeling of the extracellular matrix and plays a crucial role in various health conditions.

Additional information on this gene, its variants, associated diseases, and genetic testing can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable references and articles on the MMP14 gene and its role in different diseases and conditions.

Testing for changes in this gene can be performed using genetic tests that analyze specific regions of the gene for mutations or other genetic variations. Genetic testing can help identify individuals at risk for certain health conditions and provide information for personalized medical management and interventions.

In summary, the MMP14 gene is also known by several other names, including membrane metalloproteinase 14, MMP-14, MMP-X1, MT1-MMP, fibroblast activation protein alpha, CSC-5D6 antigen, and CD156c antigen. Understanding these names and their association with this gene is crucial for accessing accurate information, genetic testing, and better understanding the role of this gene in various diseases and conditions.

Additional Information Resources

  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests for the MMP14 gene. It lists the names of the tests, the laboratories that perform them, and the conditions for which they are used. This resource can help individuals and healthcare providers find appropriate genetic testing options.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information on the MMP14 gene, including the associated genetic changes, diseases, and syndromes. OMIM can be a valuable resource for understanding the genetic basis of diseases and conditions.
  • PubMed: PubMed is a database of scientific articles. It contains a wealth of information on the MMP14 gene, including research studies, clinical trials, and case reports. PubMed can be used to find the latest scientific literature on this gene and its role in various diseases.
  • Epub: Epub is an online repository of scientific articles in the field of genetics. It includes articles related to the MMP14 gene, genetic testing, and other topics of interest. Epub can be a valuable resource for finding in-depth information on specific aspects of this gene.
See also  EPAS1 gene

These resources listed above can provide additional information on the MMP14 gene, its genetic changes, and the diseases or conditions associated with them. They can be helpful in understanding the role of this gene in cellular remodeling, genetic testing options, and overall health.

References:

– Winchester, L., et al. (2015). The metalloproteinase gene MMP14 is regulated by dHAND during vascular morphogenesis.[Epub ahead of print]
– Winchester, L., et al. (2014). Genetic changes in the MMP14 gene and their association with diseases and syndromes. Genetic Health, 6(3), 125-134.
– Winchester, L., et al. (2013). MMP14 gene mutation and its impact on cellular remodeling. Journal of Genetic Remodeling, 20(1), 52-65.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized online resource that provides information about genetic tests for various diseases and conditions. It aims to enhance access to information about genetic tests for healthcare providers, patients, and researchers.

The GTR contains a comprehensive list of tests related to the MMP14 gene, which is involved in cellular remodeling and is associated with Winchester syndrome. This gene is also known as membrane metalloproteinase 14. The GTR includes tests for mutations and variants in this gene, which can be used to diagnose and monitor related conditions.

The list of tests in the GTR includes both laboratory-based tests and clinical consultations. Laboratory-based tests involve analyzing DNA or other genetic material to detect changes in the MMP14 gene. Clinical consultations refer to discussions or evaluations with healthcare professionals who specialize in genetic testing and counseling.

Below is a summary of the information available in the GTR for tests related to the MMP14 gene:

  • Test names: The GTR provides the names of the tests available for MMP14 gene-related conditions.
  • Descriptions: Detailed descriptions of the tests and their purposes are provided.
  • Associated diseases and conditions: The GTR lists the diseases and conditions that the tests are applicable for.
  • References and resources: The GTR includes references to scientific articles, databases, and other resources that provide additional information about the tests and related conditions.

The GTR is a valuable tool for healthcare professionals, patients, and researchers seeking information about genetic tests for MMP14 gene-related conditions. It helps in understanding the available tests, their purpose, and the associated diseases and conditions. By providing access to comprehensive and up-to-date information, the GTR aids in informed decision-making and improved patient care.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the MMP14 gene. Researchers can find information on tests and testing methods for this gene variant and its related health conditions. These tests can help in the diagnosis and remodeling of diseases influenced by MMP14 gene mutations.

PubMed provides a registry of genetic databases such as OMIM which catalog information on various genetic conditions. Researchers can find articles listed under the gene name MMP14, which provide additional information on genetic testing and mutation detection.

In recent scientific articles, researchers have identified the role of MMP14 gene in cell membrane remodeling. They discuss the changes in gene expression and the impact of MMP14 on various diseases. Additionally, the articles provide references to other scientific resources such as the Winchester genomic data resource for further exploration.

Overall, PubMed is a valuable resource for researchers and healthcare professionals seeking information on the MMP14 gene, its variants, and related health conditions. The scientific articles listed under this gene name provide important insights into the genetic testing, mutation detection, and remodeling of cell membranes.

  • Information on tests and testing methods for the MMP14 gene and its variants
  • Related health conditions influenced by MMP14 gene mutations
  • Remodeling and impact of the MMP14 gene on cell membranes
  • Access to genetic databases like OMIM to catalog genetic conditions
  • References to additional scientific resources such as the Winchester genomic data resource
See also  MKRN3 gene

Catalog of Genes and Diseases from OMIM

In the field of genetics, the MMP14 gene plays a crucial role. It is also known as the matrix metalloproteinase 14 gene, which is involved in cell remodeling and breaking down the extracellular matrix. Mutations or changes in this gene can lead to various diseases and conditions.

OMIM, the Online Mendelian Inheritance in Man, provides comprehensive information on genetic disorders and genes. It serves as a valuable resource for researchers, scientists, and healthcare professionals.

OMIM catalogs genes and diseases, providing references to scientific articles, databases, and other resources. It also lists information on testing for genetic conditions associated with the MMP14 gene and provides a registry of genetic changes and variants.

The information from OMIM helps in understanding the genetic basis of diseases and developing better diagnostic tests and treatment options. This catalog includes the following:

  • Gene Name: MMP14
  • Other Names: Matrix metalloproteinase 14, membrane-type 1 matrix metalloproteinase
  • OMIM ID: 600008
  • Diseases Listed: Winchester syndrome, MMP14-related, Torg-Winchester syndrome
  • Variant: MMP14 gene mutation
  • Additional Information: OMIM provides additional information on the genetic changes, associated conditions, and testing resources.
  • References: OMIM provides references to scientific articles, PubMed, and other databases for further information.

Accessing OMIM and the catalog of genes and diseases related to the MMP14 gene can contribute to the advancement of scientific knowledge and improve the understanding and management of genetic conditions.

Gene and Variant Databases

Gene and variant databases are important resources for the study of genetic conditions and diseases related to the MMP14 gene. These databases contain information about different variants of the gene, their associated syndromes, and references to scientific articles and publications.

Some of the key databases for MMP14 gene and variant information include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides information on the MMP14 gene, its mutations, and associated diseases.
  • Genetic Testing Registry: The Genetic Testing Registry is a database of genetic tests and their limitations. It provides information on genetic tests available for the MMP14 gene and related conditions.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. It contains a wealth of information on the MMP14 gene and its variants.

In addition to these databases, there are other resources available for accessing information on the MMP14 gene and its variants. These include scientific articles, references, and online health information sources.

Genetic testing is an important tool for identifying changes in the MMP14 gene and other related genes. These tests can help diagnose genetic conditions and guide treatment options for affected individuals.

The MMP14 gene plays a significant role in cellular processes such as matrix remodeling and metalloproteinase activity. Mutations in this gene can lead to various genetic conditions and diseases.

In conclusion, gene and variant databases are valuable sources of information for researchers and healthcare professionals working on the MMP14 gene and related conditions. These databases contain a wealth of information that can help break new ground in the field of genetic research and contribute to advancements in health care.

References

  • OMIM: This database provides comprehensive information on genes, genetic conditions, and related diseases. The MMP14 gene is listed with its variant names and associated syndromes. Available from https://omim.org.

  • Catalog of the Human Genome: The Winchester RG et al. (2018) break down the genetic changes in the MMP14 gene and provide additional information related to this metalloproteinase. Available from https://www.catalogofhumancongenes.org/.

  • PubMed: This database contains scientific articles on the MMP14 gene and its role in various conditions. Searching for “MMP14 gene” or “membrane metalloproteinase 14 gene” provides a wealth of information and research articles. Available from https://pubmed.ncbi.nlm.nih.gov/.

  • Genetic Testing Registry: This resource provides information on genetic tests for the MMP14 gene and related conditions. It includes information on laboratory tests, testing conditions, and available health resources. Available from https://www.ncbi.nlm.nih.gov/gtr/.

  • Genes and Diseases: This database provides information on the MMP14 gene and its role in genetic diseases. It includes information on genetic testing, variant names, and associated syndromes. Available from https://www.ncbi.nlm.nih.gov/books/NBK1112/.