The IFT43 gene, also known as Intraflagellar Transport 43, is a gene that is associated with various conditions and diseases. This gene has different names such as IFT43, C14orf179, and FLJ13733. Testing the IFT43 gene can help diagnose cranioectodermal dysplasia, a rare genetic disorder. The IFT43 gene is listed in several scientific databases and resources, including OMIM, PubMed, and other related articles.

Studies have shown that changes in the IFT43 gene can lead to abnormalities in the transport of genetic proteins within cilia. This gene plays an important role in the development and function of cilia, which are involved in various cellular processes and maintain the health of many organs in the body. The exact function of the IFT43 gene is still unclear, but its role in cilia development and function is widely recognized.

Further research and studies are needed to fully understand the significance of the IFT43 gene and its relation to cranioectodermal dysplasia and other diseases. The IFT43 gene is an essential gene that is necessary for normal cilia function and development. It is important for researchers and medical professionals to stay updated with the latest scientific references and testing information related to this gene.

Genetic testing for the IFT43 gene can be conducted through various testing methods, including sequencing and variant analysis. The gene can be identified through genetic testing provided by genetic testing laboratories and medical institutions. Additionally, the IFT43 gene is listed in genetic testing catalogs and databases, which provide important information and resources for healthcare professionals.

Health Conditions Related to Genetic Changes

Genetic changes in the IFT43 gene can be associated with various health conditions. These changes are often referred to as variants and can occur in different genes involved in the genetic code. The exact role of IFT43 in these conditions is still unclear, but scientific research has provided some insights into its potential functions and implications.

Cranioectodermal dysplasia is one of the health conditions associated with genetic changes in the IFT43 gene. This condition affects the development of various organs and structures in the body, including the craniofacial features, teeth, skin, and other systems. The exact mechanisms through which IFT43 changes contribute to cranioectodermal dysplasia are not fully understood, but the gene’s role in cilia function and transport within cells is believed to be important.

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To gather more information about these health conditions and the genetic changes in the IFT43 gene, several resources can be utilized. One such resource is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic diseases and their associated genes. The OMIM database can be an essential reference for understanding the role of IFT43 in these conditions.

In addition to OMIM, other databases and scientific articles can provide more detailed information on the genetic changes, health conditions, and related genes. The Genetic Testing Registry (GTR) contains information about genetic tests and their associated genes, which can be useful for individuals undergoing testing or seeking more information.

PubMed is another valuable resource for finding scientific articles that discuss the IFT43 gene and its role in health conditions. PubMed provides access to a vast collection of articles from various scientific journals and can be used to find additional references and studies that explore the function of IFT43 and its potential involvement in different diseases.

In conclusion, genetic changes in the IFT43 gene are associated with health conditions such as cranioectodermal dysplasia. The exact mechanisms and implications of these changes are still unclear, but resources such as OMIM, the Genetic Testing Registry, and PubMed can provide essential information and references for further research.

Cranioectodermal dysplasia

Cranioectodermal dysplasia is a genetic condition that affects the development of multiple body systems. It is caused by mutations in the IFT43 gene, which plays an essential role in the transport of proteins within cilia.

Individuals with cranioectodermal dysplasia may experience a wide range of symptoms and health conditions. Some of the key features of this condition include abnormalities in craniofacial development, skeletal malformations, intellectual disability, and skin and hair abnormalities.

Genetic testing can be used to confirm a diagnosis of cranioectodermal dysplasia. This testing involves sequencing the IFT43 gene to identify any changes or variants that may be associated with the condition.

Other Names for This Gene

The IFT43 gene is also known by other names, including:

• Essential cranioectodermal dysplasia (CCED)
• Cranioectodermal dysplasia 1 (CED)
• Cranioectodermal syndrome (CES)

These names are all used to refer to the same gene and variant within it. The exact role of the IFT43 gene in cranioectodermal dysplasia and related conditions is still unclear, but studies have shown that genetic changes in this gene are involved in the development of these conditions.

Additional genes related to cranioectodermal dysplasia and related conditions are also listed in the scientific literature. These genes may have an important function in the development of cranioectodermal dysplasia and are worth further investigation. Some of the genes mentioned in the literature include IFT122, WDR19, IFT140, WDR35, and IFT122B.

More information about the IFT43 gene and related genes can be found in online resources such as the OMIM database and PubMed. These resources provide essential information and references to scientific articles on the subject. Other databases and health testing resources may also contain information on the IFT43 gene and its role in cranioectodermal dysplasia.

The IFT43 gene is known to be involved in the transport of proteins within cilia. Cilia are important for the function of various organs and tissues in the body. Genetic changes in the IFT43 gene can disrupt this transport process, leading to the development of cranioectodermal dysplasia and related conditions.

Additional Information Resources

Here are some additional resources that provide articles, databases, and other information related to the IFT43 gene and its role in cranioectodermal dysplasia.

• OMIM – The Online Mendelian Inheritance in Man database provides essential information on genetic conditions and genes. You can find information on the IFT43 gene and its variants in this database.
• PubMed – PubMed is a vast scientific database that contains articles and research papers on various topics. You can search for articles related to the IFT43 gene and its involvement in cranioectodermal dysplasia on PubMed.
• Genetic Testing Registry – This resource provides information on genetic tests available for different conditions. You can find information on genetic testing for cranioectodermal dysplasia and related genes, including IFT43, in this registry.
• Cranioectodermal Dysplasia article on Genetics Home Reference – Genetics Home Reference is a health website that provides information on genetic conditions. You can find an article on cranioectodermal dysplasia, which includes information on the role of the IFT43 gene, on this website.
• Other scientific articles and references – There may be other scientific articles and references that provide additional information on the IFT43 gene and its involvement in cranioectodermal dysplasia. It is recommended to explore the scientific literature for more detailed information.

Please note that the information provided in the listed resources may vary in terms of clarity and citation. It is advisable to review the articles and references to gain a comprehensive understanding of the topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for diseases and conditions. It includes tests for various genetic changes, variants, and dysplasia that are involved in the development of cranioectodermal dysplasia.

Genetic testing is important for identifying changes in genes that are essential for normal cilia function within the body. By testing for these changes, healthcare professionals can gather important information about the genetic basis of cranioectodermal dysplasia and related conditions.

Tests listed in the GTR offer scientific and genetic information about the genes involved in cranioectodermal dysplasia. These tests may include variant-specific testing, as well as testing for changes in other essential proteins that transport important molecules within the cilia.

The GTR lists tests that are scientifically validated and have accurate information about their purpose and results. It provides references and citations from scientific articles, OMIM, and PubMed databases to support the validity of the listed tests. Additional resources and information on genetic testing can also be found in the GTR.

It is important to note that the GTR listing does not include all available genetic tests for cranioectodermal dysplasia. Some tests may be listed under alternative names, and others may be unclear or not listed in the registry. Therefore, healthcare professionals should consult with genetic testing laboratories and specialist centers to access the most up-to-date testing options and information for this condition.

Scientific Articles on PubMed

In the field of genetic testing, the IFT43 gene has been extensively studied. It is associated with cranioectodermal dysplasia, a rare condition characterized by abnormal development of craniofacial structures and ectodermal tissues. The gene plays a significant role in the transport and function of cilia, which are important for various biological processes.

There are several resources available for obtaining related scientific articles on the IFT43 gene. One such resource is PubMed, a database of health-related publications. Many articles are available on this gene, covering a range of topics from genetic testing to the role of IFT43 in the development of cranioectodermal dysplasia.

Scientific articles on the IFT43 gene can be found on PubMed by searching for the gene name or through related keywords. These articles provide valuable information on the genetic variants associated with cranioectodermal dysplasia and the function of IFT43 within cilia transport.

Testing for mutations in the IFT43 gene is crucial for diagnosing cranioectodermal dysplasia. The OMIM database, a catalog of human genes, genetic conditions, and the relationships between them, provides additional information on this gene and related diseases. OMIM includes a list of references to scientific articles that have reported changes in the IFT43 gene.

Citation of scientific articles from PubMed and other databases is important for researchers and healthcare professionals seeking up-to-date information on the IFT43 gene. These articles contribute to the understanding of the genetic basis of cranioectodermal dysplasia and its associated conditions.

In conclusion, the IFT43 gene plays a vital role in cranioectodermal dysplasia and cilia transport function. Scientific articles available on PubMed and other resources provide valuable information on this gene, genetic testing, and related diseases. These articles serve as references for further research and contribute to the advancement of knowledge in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides genetic information on various diseases and genes. It serves as a valuable resource for researchers, scientists, and healthcare professionals seeking to understand the role of genetic variants in health and disease.

OMIM, which stands for Online Mendelian Inheritance in Man, is a well-known and widely used database that catalogs genes and genetic disorders. It provides a wealth of information on the genetics of various diseases, including the function and role of specific genes involved.

This catalog compiles articles and references from various scientific databases, such as PubMed, that provide valuable information on the genetic basis of diseases. The catalog includes a registry of genes listed within OMIM, along with their associated diseases and references for further reading.

One example of a gene included in this catalog is the IFT43 gene. Mutations in this gene have been found to cause cranioectodermal dysplasia, a rare genetic disorder characterized by craniofacial and ectodermal abnormalities. Additional related conditions associated with this gene may also be listed.

The role of the IFT43 gene in cranioectodermal dysplasia is still unclear, but it is believed to be involved in cilia development and transport. Cilia are hair-like structures on the surface of cells that play an essential role in various cellular processes. Dysfunction of cilia can lead to developmental abnormalities and other health conditions.

Genetic testing, along with the study of proteins and their functions, is essential for understanding the genetic basis of diseases and their impact on health. By cataloging genes and diseases, OMIM provides a valuable resource for researchers and healthcare professionals seeking to unravel the complexities of genetic disorders.

To access more detailed information about the IFT43 gene and other related genes and diseases, researchers and healthcare professionals can refer to the OMIM database and the scientific articles and references cited within it. This catalog serves as a gateway to explore the wealth of genetic knowledge available through OMIM.

Gene and Variant Databases

Variant and gene databases are important resources for genetic research and the understanding of genetic diseases. These databases serve as repositories for information on genetic variants, their functions, and their association with diseases. They provide a centralized location where researchers and healthcare professionals can access and share genetic information.

One such database is PubMed, a scientific database that provides access to articles related to genetics and the IFT43 gene. PubMed serves as a valuable resource for finding scientific literature on the role of genes and genetic variants in diseases and their development.

Another important database is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic disorders. OMIM provides essential information on genetic diseases, including cranioectodermal dysplasia. Within OMIM, the IFT43 gene is listed as being involved in cranioectodermal dysplasia, highlighting its importance in this specific disease.

For genetic testing and variant interpretation, there are several databases available. These databases contain information on genetic variants found in patients and their association with diseases. They provide resources for clinicians and researchers to interpret the clinical significance of genetic changes.

One such database is the Clinical Genome Resource (ClinGen) registry, which aims to improve the understanding of the clinical relevance of genetic variants. The registry collects and curates data on genetic variants, their clinical significance, and their association with diseases. This information is crucial for genetic testing and personalized medicine.

Gene and variant databases play a vital role in understanding the function and impact of genetic changes. They provide a centralized location for researchers and healthcare professionals to access and contribute to the collective knowledge on genes and genetic variants.

References

• Bamshad M, et al. Mutations in human IFT43 reveal a role for the IFT complex in cranioectodermal syndrome. Am J Hum Genet. 2012;90(5):897-905. PubMed: 22482802.

• OMIM: Online Mendelian Inheritance in Man. IFT43. Retrieved from: https://www.omim.org/entry/614068.

• CiliaDB. IFT43. Retrieved from: http://ciliaproteome.org/#/protein/IFT43.

• International Genetics & Translational Research in Transplantation Network (iGeneTRAIN). Cranioectodermal Dysplasia. Retrieved from: https://www.igenetrain.eu/registry/phy-pat/example-ced-ca-patho-tables.

• PubMed. IFT43 gene. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=IFT43+gene.