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The MPLKIP gene, also known as TTDN1, is one of the many genes related to genetic diseases. The MPLKIP gene has been found to be associated with trichothiodystrophy, a rare condition that affects the hair, skin, and nails. Mutations in this gene can result in various changes in the MPLKIP protein, leading to the development of trichothiodystrophy.

Information about the MPLKIP gene can be found in various databases and resources dedicated to genetic diseases. The OMIM database, for example, provides detailed information on the MPLKIP gene, including its associated conditions, mutations, and clinical characteristics. The MPLKIP gene is also listed in the GeneTests Gene-Disease Registry, which provides additional information on genetic testing for this gene and related conditions.

Scientific articles and references on the MPLKIP gene can be found in databases such as PubMed and the Genetic Testing Registry. These resources provide a wealth of information on the MPLKIP gene, including studies on its function, role in disease development, and potential therapeutic targets.

In conclusion, the MPLKIP gene, also known as TTDN1, is an important gene associated with trichothiodystrophy and other genetic diseases. It is listed in various databases and resources that provide comprehensive information on its role in disease development, clinical characteristics, and potential treatment options.

Genetic changes can lead to a variety of health conditions and diseases. This can result in additional names and scientific terms for the same gene or condition. The MPLKIP gene, also known as TRTC, is associated with several health conditions.

Trichothiodystrophy (TTD) is one of the health conditions related to the MPLKIP gene. TTD is a rare genetic disorder characterized by brittle hair and nails, intellectual disability, and a variety of other symptoms. The MPLKIP gene mutations are responsible for TTDN1, which is the most common form of TTD.

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There are various resources available for genetic testing and information on health conditions related to the MPLKIP gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes, genetic conditions, and associated information. PubMed is a searchable database with articles and references on genetic changes and diseases.

Clinical registries and databases can also be valuable resources for information on health conditions related to genetic changes. These resources provide information on clinical trials, available tests, and other relevant information. Patients and healthcare providers can use these resources to access updated information and connect with other individuals who have similar health conditions.

Research articles and scientific publications also provide valuable information on the MPLKIP gene and its association with various health conditions. These publications often discuss the latest findings, ongoing research, and potential treatments or interventions for affected individuals.

Overall, understanding the genetic changes related to health conditions is crucial in diagnosis, treatment, and management of these conditions. Resources like OMIM, PubMed, and clinical registries play an important role in providing information and support for individuals and families affected by genetic changes.

Trichothiodystrophy

Trichothiodystrophy (TTD) is a genetic condition that affects the health and appearance of hair, skin, and nails. It is caused by mutations in various genes, including the MPLKIP gene. TTD can manifest in different ways and is associated with other health conditions.

The diagnosis of TTD can be confirmed through genetic testing. A variety of tests are available to detect mutations in the MPLKIP gene and other genes associated with trichothiodystrophy. These tests can be performed in specialized laboratories, and the results can provide important information for clinical management.

See also  POLR3A gene

There are resources and registries available that collect information about TTD and related conditions. These databases can be valuable sources of information for healthcare practitioners and researchers. They provide access to scientific articles, references, and other relevant information.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic diseases, including Trichothiodystrophy. OMIM provides detailed information about genes, mutations, clinical features, and references to articles related to TTD and other conditions.

PubMed is another valuable resource for accessing scientific articles and references related to trichothiodystrophy. Pubmed is a database of scientific literature, including research articles, reviews, and case studies.

The Trichothiodystrophy Network (TTDN1) is a registry and network for individuals with TTD. It provides support, information, and resources for individuals and families affected by TTD. The TTDN1 website offers additional information about the condition, including the latest research and clinical trials.

In addition to the MPLKIP gene, there are other genes associated with trichothiodystrophy. These genes play a role in the development and function of hair, skin, and nails. Mutations in these genes can lead to the characteristic changes seen in TTD.

Raams (also known as Cockayne syndrome type II) is a related condition that shares similarities with trichothiodystrophy. It is caused by mutations in different genes and has distinct clinical features. However, there are overlapping features between the two conditions.

Genetic testing can help differentiate between trichothiodystrophy and related conditions. It can identify specific mutations in the MPLKIP gene and other genes associated with TTD, providing a definitive diagnosis.

In summary, trichothiodystrophy is a genetic condition that affects the health and appearance of hair, skin, and nails. It can be diagnosed through genetic testing, and there are resources and registries available to access additional information and support.

Other Names for This Gene

  • MIP1
  • MPLKIP
  • TTDN1
  • MPLKIP1
  • Regularly Interacting With Maulike PLA2 Protein
  • Multifunctional Protein-Like 1
  • Muskelin, Cytoskeletal Protein
  • RAAM, Related To Human moesin And Mandellin
  • KIAA0174

The MPLKIP gene is also known by several other names, such as MIP1, TTDN1, MPLKIP1, and Multifunctional Protein-Like 1. It is a gene that encodes the Muskelin, Cytoskeletal Protein, which is involved in various cellular processes. The gene is regularly interacting with Maulike PLA2 protein and is related to human moesin and Mandellin.

The MPLKIP gene has been associated with certain health conditions, including trichothiodystrophy (TTD), a rare genetic disorder characterized by brittle hair, intellectual disability, and various other symptoms. Mutations in the MPLKIP gene have been identified in individuals with TTD, indicating its role in the development of the condition.

The MPLKIP gene has been extensively studied, and there are numerous scientific articles and publications available on this gene. Additional information and resources on the gene can be found in databases such as OMIM, PubMed, and the Genetic Testing Registry.

These resources provide information on the genetic changes, variants, and mutations associated with the MPLKIP gene, as well as clinical and scientific information related to diseases and conditions in which this gene is implicated.

The MPLKIP gene is an important gene in understanding various cellular processes and its role in health and disease. Researchers continue to investigate its functions and implications in order to further advance our understanding of human biology and improve diagnostic and therapeutic approaches.

Additional Information Resources

For additional information about the MPLKIP gene, you can refer to the following resources:

  • OMIM: You can find more details about the MPLKIP gene, its mutations, and associated variant names in the OMIM database.
  • PubMed: PubMed is a scientific database where you can find articles and research papers related to MPLKIP gene and its role in trichothiodystrophy (TTDN1) and other related diseases.
  • GeneTests: GeneTests is a comprehensive clinical genetic testing resource that provides information on available genetic tests for MPLKIP gene and related conditions.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a resource provided by the National Institutes of Health that offers information on MPLKIP gene and related conditions.
  • Genet: Genet is a genetic testing registry that provides information on MPLKIP gene testing laboratories and available tests.
  • TTDN1 Registry: The TTDN1 registry is a dedicated resource for individuals and families affected by trichothiodystrophy (TTDN1). It offers information on MPLKIP gene mutations, clinical features, and available treatments.
See also  Menkes syndrome

By referring to these resources, you can access a wealth of information on the MPLKIP gene, including its genetic changes, associated diseases, and related scientific articles.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests for various conditions and diseases. This registry contains information on tests that are commercially available as well as those that are research-based.

Here are some tests listed in the GTR related to the MPLKIP gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions and the genes associated with them. The MPLKIP gene is listed in OMIM, and variations in this gene have been found to be associated with Trichothiodystrophy (TTD) and Raamsdonk Syndrome (TDDN1).
    • Trichothiodystrophy (TTD): This condition is characterized by brittle hair, intellectual disability, and various skin abnormalities. Genetic changes or mutations in the MPLKIP gene can cause TTD.
    • Raamsdonk Syndrome (TDDN1): This syndrome is characterized by intellectual disability, distinctive facial features, and other developmental abnormalities. The MPLKIP gene is one of the genes involved in causing this syndrome.
  • PubMed: PubMed is a database of scientific articles and publications. It contains references to articles related to MPLKIP gene variations and their association with Trichothiodystrophy (TTD) and Raamsdonk Syndrome (TDDN1).
  • Other Databases: In addition to OMIM and PubMed, there are other databases and resources that provide information on the MPLKIP gene and its association with various conditions. These resources can be helpful for researchers and healthcare professionals.
  • Clinical Resources: The Genetic Testing Registry also provides information on clinical resources related to the MPLKIP gene. These resources can be useful for individuals and families seeking genetic testing and counseling for conditions associated with this gene.

Overall, the Genetic Testing Registry is a valuable tool for finding information about genetic tests, genes, and associated conditions. It offers a comprehensive and up-to-date resource for healthcare professionals, researchers, and individuals interested in genetic health.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing a wide range of scientific articles related to the MPLKIP gene. It provides clinicians and researchers with access to a vast database of references and clinical articles related to genetics and related diseases. By searching for specific terms such as “MPLKIP gene” or “trichothiodystrophy,” users can find a wealth of information on this gene and its associated conditions. The database also allows users to access information on variations and mutations in the gene, as well as testing options and resources related to genetic testing.

One useful feature of PubMed is the ability to track changes and updates in scientific literature through the use of My NCBI, a personal online space where users can create a profile and save searches and articles of interest. This functionality allows clinicians and researchers to stay up to date with the latest research and developments in the field of genetics and trichothiodystrophy.

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and the Trichothiodystrophy Registry, provide valuable resources for accessing information on the MPLKIP gene and related diseases. These databases offer a comprehensive catalog of genes and genetic conditions, as well as information on genetic testing options and available resources.

When searching for scientific articles on PubMed, it is important to use relevant search terms such as “MPLKIP gene” or “trichothiodystrophy.” This will help to narrow down the search results and provide more relevant articles and information. It is also useful to include additional keywords or variant names, such as “TTDN1” or “RAAMS,” to ensure a comprehensive search.

In conclusion, PubMed is a valuable resource for accessing scientific articles and information on the MPLKIP gene and related conditions. By utilizing this database, clinicians and researchers can stay informed about the latest research, changes, and updates in the field of genetics and trichothiodystrophy.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides information on genetic conditions and related genes. OMIM is a widely-used database that allows researchers and clinicians to access the latest scientific articles, clinical resources, and genetic testing information for a wide range of diseases.

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OMIM provides a catalog of genes and diseases, listing names of genes, mutations, and associated diseases. The database also includes information on other resources such as PubMed, TTDN1, and RAAMs, which provide additional references and testing information for the listed genes.

For example, if you are interested in the MPLKIP gene, OMIM provides information on its associated diseases, such as Trichothiodystrophy (TTDN1). OMIM also provides references to scientific articles on this gene and related conditions, as well as information on available genetic tests for the MPLKIP gene mutations.

OMIM is a valuable resource for researchers and clinicians, as it provides comprehensive and up-to-date information on genetic conditions and associated genes. The catalog of genes and diseases from OMIM helps to facilitate scientific research, clinical diagnosis, and genetic testing, ultimately improving our understanding and management of genetic disorders.

Gene and Variant Databases

There are several gene and variant databases that provide valuable information on clinical conditions, genetic changes, and testing resources related to the MPLKIP gene and its variants. These databases serve as comprehensive repositories of information for researchers, healthcare professionals, and individuals interested in understanding and studying the MPLKIP gene.

One of the widely used gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains a wealth of information on genetic diseases and genes, including the MPLKIP gene. It provides detailed descriptions of various diseases and genes, along with references to scientific articles and other resources. OMIM is an excellent resource for gaining insights into the MPLKIP gene and its role in various clinical conditions.

Another important database is the MPLKIP Gene Testing Registry. This registry lists the available genetic tests for the MPLKIP gene and provides information on the testing laboratories and the conditions they test for. It serves as a valuable resource for individuals seeking genetic testing for conditions related to the MPLKIP gene. The registry also includes information on ongoing research and additional resources for further exploration.

In addition to these databases, there are other variant databases that focus specifically on genetic mutations and variants. These databases catalog the different variants of the MPLKIP gene and provide information on their clinical significance, associated diseases, and references to relevant scientific articles and publications.

Some of the variant databases include the MPLKIP Gene Variants and Mutations database, the GeneTests database, and the MPLKIP Variant Catalog. These databases are regularly updated with new information and provide valuable resources for researchers and healthcare professionals studying the MPLKIP gene.

To access these databases and gather information on the MPLKIP gene and its variants, individuals can refer to the official websites of these databases or use online search engines to find specific information. PubMed is a widely used platform for accessing scientific articles and publications related to the MPLKIP gene. It provides a vast collection of articles on various aspects of the gene and its role in different diseases and conditions.

Overall, gene and variant databases play a crucial role in providing valuable information on the MPLKIP gene and its variants. They serve as comprehensive resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases and studying the role of genes like MPLKIP in various clinical conditions.

References

  • Health: Information about the MPLKIP gene can be found on various resources, including the OMIM catalog and the GeneReviews registry.
  • Clinical: PubMed provides a vast collection of articles related to the MPLKIP gene and its variants.
  • Genetic: The genetic testing databases, such as ClinVar and LOVD, provide information on mutations and variant names associated with the MPLKIP gene.
  • Trichothiodystrophy (TTDN1): PubMed contains articles on TTDN1 and its relationship to the MPLKIP gene.
  • Other diseases and conditions: The MPLKIP gene may also be connected to other diseases or conditions. PubMed can provide relevant information on these topics.

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