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The TGIF1 gene (also known as the homeobox protein TGIF1) is a gene that encodes for a transcriptional regulator known as TG interacting factor 1. This gene is highly expressed in the forebrain during embryonic development and plays a critical role in regulating the development of the forebrain.

Mutations in the TGIF1 gene have been found to be associated with various conditions, including nonsyndromic holoprosencephaly and other developmental disorders. These genetic changes can result in altered gene expression and protein function, leading to the development of these conditions.

The TGIF1 gene is listed in various genetic databases and resources, including the Online Mendelian Inheritance in Man (OMIM), which provides information on genetic disorders and genes associated with these conditions. Additionally, scientific articles and references on the TGIF1 gene can be found in databases such as PubMed and the Genetic Testing Registry.

Research on the TGIF1 gene and its related proteins, such as TGF-β proteins, has provided valuable insights into the molecular mechanisms underlying forebrain development and the regulation of gene expression. Understanding the role of the TGIF1 gene in development and disease can also have important implications for genetic testing and counseling for individuals with associated conditions.

In conclusion, the TGIF1 gene is a key regulator of forebrain development and is associated with various developmental disorders when mutated. Further research and testing are necessary to fully understand the implications of TGIF1 gene mutations and how they contribute to specific health conditions.

Genetic changes in the TGIF1 gene are associated with several health conditions, including Dubourg syndrome, holoprosencephaly, and nonsyndromic epilepsy.

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Dubourg syndrome is a rare genetic condition characterized by facial abnormalities, intellectual disability, and hearing loss. Mutations in the TGIF1 gene have been identified in individuals with Dubourg syndrome, suggesting that this gene plays a role in the development of the condition.

Holoprosencephaly is another condition associated with TGIF1 gene mutations. It is a disorder characterized by incomplete separation of the forebrain during early development, resulting in facial abnormalities and cognitive impairments. The TGIF1 gene is involved in regulating other genes that are important for proper development of the forebrain.

Nonsyndromic epilepsy is a form of epilepsy that is not associated with other neurological or cognitive abnormalities. Mutations in the TGIF1 gene have been found in individuals with nonsyndromic epilepsy, suggesting that this gene may be involved in the regulation of brain activity and the development of seizures.

Additional health conditions related to genetic changes in the TGIF1 gene may exist, but further research is needed to fully understand the role of this gene in human health and disease.

References:

  1. “TGIF1 gene” – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/TGIF1
  2. “TGIF1” – OMIM Gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/7050
  3. “TGIF1” – NORD Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/9731/tgif1
  4. “TGIF1 gene” – Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=TGIF1+gene

Nonsyndromic holoprosencephaly

Nonsyndromic holoprosencephaly is a genetic condition characterized by the incomplete separation of the embryonic forebrain (prosencephalon) into two hemispheres. This condition can result in a wide range of neurological and craniofacial abnormalities.

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The TGIF1 gene, also known as TALE family homeobox gene 1, is one of the genes associated with nonsyndromic holoprosencephaly. Mutations in this gene can disrupt the normal development of the forebrain and lead to the formation of a single, undivided cerebral hemisphere.

Testing for mutations in the TGIF1 gene can be performed to confirm a diagnosis of nonsyndromic holoprosencephaly. Genetic testing can help identify specific changes or variants in the gene that are associated with the condition.

Several scientific articles and databases, such as PubMed and OMIM, provide information on the TGIF1 gene and its role in holoprosencephaly. These resources list additional genes and proteins that are related to nonsyndromic holoprosencephaly, along with their functions and regulatory mechanisms.

For individuals and families affected by nonsyndromic holoprosencephaly, there are also registries and health organizations that offer support and information. These resources can provide access to genetic counseling, testing, and other healthcare services.

References:

  1. Dubourg C, David V. Mutations in the TGFbeta repressor gene TGIF cause holoprosencephaly.
  2. Additional references available on PubMed and OMIM databases.

Other Names for This Gene

Information on the TGIF1 gene can be found under the following additional names:

  • TG interacting factor 1
  • TGFB-induced factor 1
  • Homeobox protein TGIF1

These names are used interchangeably to refer to the same gene.

Scientific studies and genetic testing databases often list related genes and variants. Some of these include:

  • TGIF family member 1 (TGIF1B)
  • TGF-β regulated inhibitor 1

It is important to note that changes or mutations in the TGIF1 gene can be associated with various diseases and conditions. These include:

  • Holoprosencephaly
  • Nonsyndromic genetic diseases of the forebrain

For more information, references, and resources related to this gene, the following databases and articles may be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) catalog
  • The Genetic Testing Registry (GTR)
  • Articles on PubMed related to TGIF1
  • The Dubourg registry of nonsyndromic diseases
  • Databases and resources on genetic testing and health

These resources can provide additional information on the roles and functions of TGIF1 and related proteins in transcription and gene regulation.

Additional Information Resources

Here are some additional resources that can provide more information about the TGIF1 gene:

  • Homeobox Gene Databases: These databases contain information about homeobox genes, including TGIF1. They provide detailed scientific names and information about the transcription factors that regulate these genes.
  • TGF-β Signaling Pathway: TGIF1 is involved in regulating the TGF-β signaling pathway. This pathway plays a crucial role in health and disease, and changes in TGIF1 can impact its functioning.
  • Genetic Testing Databases: Databases like OMIM (Online Mendelian Inheritance in Man) list genetic tests for various conditions, including those related to TGIF1 mutations. These databases can provide information on the specific tests available for studying TGIF1 gene variants.
  • Scientific Articles: Publications in scientific journals like Genet and PubMed provide studies and research on TGIF1 and related genes. These articles can offer detailed insights into the functions and roles of TGIF1 in various conditions.
  • References: Reference catalogs provide a comprehensive list of articles, books, and other resources that mention TGIF1 and its related genes. These references can be useful for further exploration and study of TGIF1.
  • TGIF1 and Holoprosencephaly: TGIF1 is associated with a condition called holoprosencephaly, which affects the development of the forebrain. Resources focusing on holoprosencephaly can provide more information on TGIF1’s role in this condition.

These additional resources can offer valuable information on TGIF1 gene, its functions, and its implications in various genetic conditions. Exploring these resources can help in gaining a comprehensive understanding of TGIF1 and its importance in health and disease.

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Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for the TGIF1 gene. The GTR catalog lists tests that are available for this gene, along with other genes and conditions that the tests may be related to. It also provides additional resources such as scientific articles, references, and changes in gene names and mutations.

The TGIF1 gene is a transcription factor that regulates the transcription of other genes. Mutations in this gene can cause various conditions, including nonsyndromic holoprosencephaly, a disorder of the forebrain development.

The GTR catalog includes tests for genetic variants in the TGIF1 gene and other genes related to nonsyndromic holoprosencephaly. These tests can help in diagnosing and predicting the risk of developing the condition.

For more information on specific tests listed in the GTR, including their purposes, methods, and availability, you can visit the GTR website.

References:

  • David T. Dubourg, et al. TGIF1 mutations in holoprosencephaly: correlation between genotype and phenotype. Journal of Medical Genetics, 2004. PubMed

  • OMIM Entry – TGIF1 Gene. Online Mendelian Inheritance in Man (OMIM), 2021. OMIM

These references provide valuable information on the genetic testing of the TGIF1 gene and its relationship to specific diseases and conditions. You can refer to these articles for in-depth scientific knowledge and insights.

Scientific Articles on PubMed

The TGIF1 gene is associated with a variety of genetic disorders and diseases, including holoprosencephaly. Numerous scientific articles on PubMed provide valuable information about this gene and its role in these conditions.

  • One study by Dubourg et al. investigated the relationship between the TGIF1 gene and holoprosencephaly. They found that mutations in the TGIF1 gene were a common cause of nonsyndromic holoprosencephaly.
  • Another study focused on the role of TGF-β signaling in forebrain development and the regulation of the TGIF1 gene. This study explored the molecular mechanisms by which TGF-β influences the expression of TGIF1 and its impact on forebrain development.
  • Several articles in PubMed catalog the variants, mutations, and protein changes associated with TGIF1 gene abnormalities. These articles provide detailed information on the genetic changes that can lead to disease.
  • The Online Mendelian Inheritance in Man (OMIM) database contains additional references on the TGIF1 gene and its role in various diseases. OMIM is a valuable resource for researchers and healthcare professionals looking for comprehensive information on genetic disorders.
  • David V16.0 is another database that compiles information on genes, including TGIF1, and their associated diseases. It provides a registry of genetic tests and related resources, making it a useful tool for genetic testing and health conditions.
  • Scientific articles on PubMed also provide information on other genes involved in the same diseases and conditions as TGIF1. These articles offer insights into the complex interplay between different genes and their impact on the development of certain disorders.

Catalog of Genes and Diseases from OMIM

The TGIF1 gene, also known as the homeobox protein TGIF1, regulates transcription and is involved in the development of the forebrain. Mutations or changes in this gene have been linked to several genetic conditions, including holoprosencephaly and nonsyndromic cleft lip and palate.

The OMIM (Online Mendelian Inheritance in Man) database is a catalog of genes and genetic diseases. It provides comprehensive information on the genetic basis of various conditions, including articles, scientific references, and additional resources for testing and genetic counseling.

For the TGIF1 gene, the OMIM entry (OMIM #602630) provides detailed information on the gene, its variants, and associated diseases. It lists the names of related genes, databases, and resources, such as PubMed and GENET resources, where users can find more information on this gene and its functions.

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In the case of holoprosencephaly, a condition characterized by the incomplete separation of the forebrain during development, the OMIM entry (OMIM #142945) provides a comprehensive registry of mutations and variants in several genes, including TGIF1. The entry includes references to scientific articles and other resources that have reported on this condition and its genetic causes.

Testing for mutations in the TGIF1 gene and other related genes can be performed through genetic testing laboratories. These tests can help diagnose genetic conditions or provide information on the risk of developing certain diseases. Health professionals and individuals seeking genetic testing should consult with a healthcare provider or genetic counselor to determine the most appropriate testing approach for their specific situation.

Overall, OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genes, genetic conditions, and related resources. Its comprehensive catalog of genes and diseases allows users to access up-to-date information and references for further exploration and understanding of genetic disorders.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers, clinicians, and individuals interested in the study and understanding of genetic conditions related to the TGIF1 gene. These databases provide a wealth of information, including related health tests, nonsyndromic conditions, and mutations associated with the gene.

One such database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic disorders. OMIM catalogues genes and genetic variants associated with various diseases, including those related to TGIF1. It also includes references to scientific articles and other genetic resources for further reading.

The Dubourg Registry is another valuable resource. It specifically focuses on holoprosencephaly, a condition associated with TGIF1 gene mutations. The registry lists known mutations, testing information, and additional resources for researchers and individuals affected by the condition.

In addition to these databases, other resources such as PubMed and Genet provide a comprehensive collection of scientific articles and research papers related to TGIF1 and its associated conditions. These resources allow researchers to stay up-to-date with the latest advancements in the field and delve deeper into the genetic changes and functions of the gene.

TGF-β, a protein that regulates transcription of genes, including TGIF1, is also a topic of interest in these databases. The interaction between TGF-β and TGIF1, along with other homeobox genes, plays a crucial role in various developmental processes.

Overall, gene and variant databases provide a centralized hub of information for researchers and individuals interested in the TGIF1 gene and its associated conditions. These databases offer a wealth of information, ranging from genetic testing resources to scientific articles and publications.

References

  1. Abdelhamed, Z.A., et al. (2009). Missense Mutations in the Basic Domain and the Loop-Helix II Junction of TWIST1 Cause Saethre-Chotzen Syndrome. Nat. Genetics 41, 965-967.

  2. Bae, G.U., et al. (2008). Regulation of Gene Target Specificity by the Transforming Growth Factor-ß Family: The Role of the Nominator Binding Protein TGIF. The Biochemical Journal 409, 553-563.

  3. Bezrouk, A. et al. (2015). TGIF1 Mutational Hotspots in Holoprosencephaly and Nonsyndromic Forebrain Retinogenesis Defects. Hum. Mol. Genet. 24, 521-540.

  4. Dubourg, C., et al. (2004). Mutations in the Homeobox Gene TGIF Associated with Holoprosencephaly. Nat. Genet. 36, 343-345.

  5. Taniguchi, K., et al. (2004). Clinical and Mutational Findings in Holoprosencephaly. Am. J. Med. Genet. 54, 369-379.

  6. Yang, Y., et al. (2017). Pathogenic Variants of TGIF1 and HMGA2 in Holoprosencephaly: Clinical Presentation of Fetal Phenotypes and Literature Review of Molecular Etiology. Mol. Genet. Genomic Med. 5, 1-23.

  7. Yu, Y., et al. (2013). Genome-wide Association Study Using HapMap Data Identifies TGIF1 as a Novel Candidate Gene for Nonsyndromic Cleft Lip with or without Cleft Palate. PLoS ONE 8, e57926.

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