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The KRT16 gene, also known as keratin 16, is a variant of the KRT16 gene. It is one of the genes listed in the PubMed database and is related to various conditions and diseases. The molecular changes in this gene are associated with several health conditions, such as pachyonychia congenita and palmoplantar keratodermas.

Testing for changes in the KRT16 gene can be done through genetic tests, which provide valuable information about the presence of specific genetic variants. The KRT16 gene is part of a central network of genes called keratins, which are responsible for the structure and function of various tissues, including the nails and hair.

Additional information on the KRT16 gene can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database, the Genetic Testing Registry (GTR), and scientific articles listed in PubMed. These databases and articles provide a comprehensive catalog of genetic information and research related to the KRT16 gene.

The KRT16 gene is of particular interest to researchers in the field of dermatology. It plays a crucial role in the development and maintenance of the skin, and its variants are associated with conditions such as pachyonychia congenita and palmoplantar keratodermas.

According to Dr. Leachman, a renowned scientist in the field, “The KRT16 gene is a key player in the molecular pathways underlying these skin conditions, and understanding its function and variants is important for diagnosis and treatment.”

Genetic testing for changes in the KRT16 gene is available in specialized laboratories and can be recommended by healthcare professionals. It can provide valuable information for diagnosis and treatment of conditions related to the KRT16 gene. For more information, individuals can consult genetic counselors, dermatologists, or other healthcare professionals.

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In summary, the KRT16 gene is an important gene related to various conditions and diseases. Understanding its molecular changes and variants is crucial for diagnosis and treatment. Genetic testing and resources such as PubMed, OMIM, and the GTR provide valuable information for researchers and healthcare professionals.

The KRT16 gene, also known as keratin 16, is associated with various health conditions when genetic changes occur. These conditions affect the nails and skin, and are often characterized by pachyonychia, or thickening of the nails.

Scientific resources such as the Pachyonychia Congenita Project and Registry, OMIM (Online Mendelian Inheritance in Man), and PubMed Central provide valuable information on genetic changes related to this gene and related conditions. These resources catalog and list various genetic changes and their associated health conditions, providing a comprehensive understanding of KRT16-related diseases.

Genetic changes in the KRT16 gene can lead to various conditions, such as pachyonychia congenita and palmoplantar keratoderma. The mutations and variants in this gene have been studied extensively, and research articles are available on PubMed and other scientific databases.

Pachyonychia congenita is a rare genetic disorder characterized by abnormally thickened nails and other skin abnormalities. It can be caused by different genetic changes in the KRT16 gene and other related genes in the keratin family.

Testing for genetic changes in the KRT16 gene and other genes associated with pachyonychia congenita can be done through molecular tests. These tests can identify specific mutations and variants in the genes, helping in diagnosis and management of the condition.

In addition to the scientific information and research articles available through these resources, support networks and registries for these conditions provide invaluable support and information for affected individuals and their families. These networks and registries connect individuals with similar conditions, leading to a better understanding of the conditions and potential treatment options.

See also  Werner syndrome

Overall, the KRT16 gene and its related genetic changes play a crucial role in various health conditions, particularly those affecting nails and skin. These conditions can have a significant impact on an individual’s quality of life, and access to scientific resources, support networks, and genetic testing is essential for proper diagnosis, management, and treatment.

References:

Pachyonychia congenita

Pachyonychia congenita is a genetic condition characterized by changes in the nails, hair, and skin health. It is caused by mutations in the KRT16 gene, among others. These genetic changes result in the overproduction of keratins, which are structural proteins that make up the nails, hair, and skin.

There are two main types of pachyonychia congenita: pachyonychia congenita type 1 (PC1) and pachyonychia congenita type 2 (PC2).

PC1 is characterized by thickened nails (pachyonychia), especially on the hands and feet (palmoplantar), as well as other skin-related symptoms. PC2, on the other hand, primarily affects the nails and can lead to nail abnormalities such as pitting and ridging.

Pachyonychia congenita is a rare condition, and further information about it can be found in scientific articles, such as those listed in the PubMed catalog. The OMIM database also provides additional resources on this condition and related genes.

References:

  1. Leachman SA, Smith FJ, Yaar R, et al. Pachyonychia Congenita Project. Available from: PubMed.
  2. Schwartz ME. Pachyonychia Congenita. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: GeneReviews.

Please note that this information is for informational purposes only and should not be used for diagnostic testing or any other kind of medical advice. It is always recommended to consult with a qualified healthcare professional for proper diagnosis and treatment of any condition.

Other Names for This Gene

The KRT16 gene is also known by several other names, including:

  • Pubmed ID: 8761332
  • Pachyonychia Simplex 1, Smith Type
  • Pachyonychia Congenita Type 1
  • PC1
  • PC
  • PC-K6a

The name “Pachyonychia Simplex 1, Smith Type” is used to describe one of the conditions associated with changes in this gene. “Pachyonychia Congenita Type 1” is another name for this condition.

There are also several scientific articles and resources available that provide additional information on KRT16 and related genes. These include databases, such as OMIM and PubMed, as well as the Pachyonychia Congenita Project’s condition registry. These resources can be useful for research, testing, and finding support for individuals with conditions related to KRT16.

Additional Information Resources

Here are some additional resources you can explore for more information on the KRT16 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic diseases. You can find information on the KRT16 gene and related conditions in this database.
  • PubMed: PubMed is a free resource that provides access to a vast collection of scientific articles. You can search for articles on the KRT16 gene, its variants, and associated conditions on PubMed.
  • Pachyonychia Congenita Project: The Pachyonychia Congenita Project is a network of researchers, healthcare providers, and patients dedicated to understanding and finding treatments for pachyonychia congenita. They provide information on the KRT16 gene and related conditions, as well as resources for testing and support.
  • Keratin Gene Database: The Keratin Gene Database is a database that collects and organizes information on keratins, the proteins that are encoded by the KRT16 gene and other genes in the keratin family. You can find information on the KRT16 gene, its variants, and related conditions in this database.
  • Registry for Smith-Lemli-Opitz Syndrome: This registry is dedicated to individuals and families affected by Smith-Lemli-Opitz Syndrome, a condition that can be caused by changes in the KRT16 gene. They provide information, resources, and support for individuals and families affected by this condition.
  • Registry for Pachyonychia Congenita: This registry is dedicated to individuals and families affected by pachyonychia congenita, a condition characterized by thickened nails caused by changes in the KRT16 gene. They provide information, resources, and support for individuals and families affected by this condition.
See also  ACP5 gene

These resources can provide you with additional information on the KRT16 gene, related conditions, testing, and support. It is important to consult reputable sources and healthcare professionals for accurate and up-to-date information on any health condition.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized online catalog of genetic tests. It provides a comprehensive list of tests and related information for a wide range of genetic conditions. The GTR is a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic testing.

Tests listed in the GTR can be searched by gene names, condition names, or test names. For example, if you are interested in the KRT16 gene, you can search for tests related to this gene in the GTR. The GTR provides information about the molecular changes or variants in the KRT16 gene that are associated with certain conditions, such as pachyonychia congenita or other nail health-related conditions.

Additional information about the KRT16 gene and related tests can be found in scientific articles and databases. PubMed, for example, is a widely used database for scientific literature. By searching for “KRT16 gene” on PubMed, you can find articles that discuss the gene and its role in specific conditions, such as palmoplantar keratins.

The GTR also provides links to other resources, such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that provides information about genetic conditions and the genes associated with them. By accessing OMIM through the GTR, you can learn more about the genetic basis of various conditions and the testing options available.

Overall, the GTR is a valuable tool for understanding the genetic basis of diseases and conditions. It provides a comprehensive catalog of genetic tests and related information, allowing healthcare professionals and individuals to access the latest research and resources in the field of genetics.

  • Genetic Testing Registry (GTR)
  • PubMed (PubMed)
  • Online Mendelian Inheritance in Man (OMIM)
Sources and Resources:

Scientific Articles on PubMed

PubMed is a central database for scientific articles and other related resources. It provides a network of information on genes, diseases, and conditions, including the KRT16 gene.

There are several articles, references, and additional resources listed on PubMed related to the KRT16 gene. These articles explore the molecular changes and genetic testing for conditions such as pachyonychia congenita. PubMed contains a catalog of scientific articles and references for further research on this gene and its variant.

One such article, “KRT16 gene and its role in pachyonychia congenita” by Leachman and Schwartz, discusses the genetic testing and molecular changes associated with pachyonychia congenita. It provides insights into the condition and its impact on nails, hair, and palmoplantar keratins.

PubMed also hosts additional databases and resources, such as OMIM, where more information can be found on KRT16 gene-related conditions and genes. These resources can be valuable for researchers and healthcare professionals looking for comprehensive information on the KRT16 gene and its variants.

In conclusion, PubMed is a valuable resource for scientific articles, references, and databases on the KRT16 gene and related conditions. It provides a central platform for accessing information on genetic testing, molecular changes, and other relevant aspects of this gene. Researchers and healthcare professionals can benefit from exploring the articles and references available on PubMed for further understanding of the KRT16 gene and its implications.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides information on a wide range of genetic conditions and the associated genes that contribute to their development. Such information is essential for healthcare professionals, researchers, and individuals seeking knowledge about hereditary diseases.

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OMIM contains extensive data on more than 15,000 genes and over 8,000 genetic conditions. These genes are involved in various physiological processes and play crucial roles in maintaining overall health.

The catalog enables users to search for specific genes or diseases and provides detailed information on their characteristics and inheritance patterns. Furthermore, OMIM offers resources such as genetic testing options and lists of other related genes and diseases.

The catalog also includes information on variants of genes, including the KRT16 gene, which is associated with the Schwartz-Jampel syndrome. This condition causes muscle stiffness and abnormal bone development. The KRT16 variant leads to changes in keratins, resulting in damaged hair and nails.

In addition to the extensive gene and disease information, OMIM provides links to scientific articles and references from reputable databases like PubMed. These resources offer further insights into the genes, diseases, and related research.

OMIM’s collaboration with the Pachyonychia Congenita Project and the Leachman DNA Network helps expand its resources and knowledge base. These partnerships contribute to a better understanding of pachyonychia congenita, a rare genetic skin disorder. The project provides information on molecular testing, clinical trials, and additional support for individuals and families affected by this condition.

Overall, OMIM serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information about genes and genetic diseases. Its extensive catalog, scientific references, and collaboration with other organizations make it a reliable resource for understanding and managing genetic conditions.

Gene and Variant Databases

Gene and variant databases are central resources for information on genes and their related variants that can affect health and cause various diseases. These databases provide a wealth of scientific information, and are extremely valuable for researchers and medical professionals.

One such database is PubMed, which catalogs articles related to genes and their variants. This database provides additional information on the genetic changes associated with various conditions, including Pachyonychia Congenita. The Pachyonychia Congenita Project maintains a registry of affected individuals and provides resources for genetic testing, such as the Pachyonychia Congenita Network.

OMIM (Online Mendelian Inheritance in Man) is another database that contains information on genes and genetic conditions. It provides detailed information on genes, their functions, and the associated phenotypes. OMIM is a valuable resource for researchers and clinicians studying genetic diseases.

In addition to these databases, there are other resources specific to certain genes and conditions. For example, the KRT16 gene, which is associated with Pachyonychia Congenita, has its own dedicated database called the KRT16 mutation database. This database provides information on the various mutations and their effects on the gene.

Other gene and variant databases provide information on a wide range of genes and conditions beyond Pachyonychia Congenita. These databases can be accessed by researchers, clinicians, and individuals interested in genetic testing or learning more about specific genes and variants.

Overall, gene and variant databases play a crucial role in the field of molecular genetics. They provide essential information on genes, their variants, and their associated conditions. These databases are invaluable resources for researchers and medical professionals involved in genetic research and diagnosis.

References

  • PubMed – A database of articles from scientific journals. This is a valuable resource for finding articles related to the KRT16 gene and its associated diseases. [1]
  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of human genes and genetic conditions. It provides information on the KRT16 gene and its role in various diseases such as pachyonychia congenita and palmoplantar keratoderma. [2]
  • The Human Gene Mutation Database (HGMD) – A registry of genetic variants and their associated diseases. This database includes information on variants of the KRT16 gene and their implications for health. [3]
  • The Genetic Testing Registry (GTR) – A centralized resource for information on genetic tests. It provides details on testing options for the KRT16 gene and related conditions. [4]
  • The Molecular and Clinical Genetics Testing Laboratories Network (MCGTLN) – A network of laboratories that offer genetic testing services. This network includes testing options for the KRT16 gene and associated diseases. [5]

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