The LIMK1 gene is one of the many genes that regulate cognitive functions and visual-spatial tasks within the human body. It has been extensively studied and documented in scientific articles, and its importance in regulating various cellular processes has been established. The gene is listed in databases and resources such as OMIM and PubMed, where additional information and references can be found.
LIMK1 is involved in the regulation of actin filaments, which play a central role in cell movement, shape, and organization. Mutations or changes in this gene can result in genetic conditions such as Williams-Beuren syndrome, a rare disorder that affects cognitive abilities and visual-spatial tasks. Testing for variants in the LIMK1 gene can be done through genetic testing, and it can provide vital information for individuals and their healthcare providers.
Research and studies have shown that the LIMK1 gene is related to various diseases and conditions, and understanding its role can help in diagnosis and treatment. The gene has been associated with cognitive impairments and visual-spatial difficulties in individuals with Williams-Beuren syndrome. Furthermore, studies conducted by Kippenhan et al. and Mervis et al. have demonstrated the direct impact of LIMK1 gene variants on cognition and visual-spatial tasks.
As more scientific research is conducted, the importance of the LIMK1 gene in human health becomes increasingly evident. Its role in regulating cognitive functions and visual-spatial tasks makes it a key gene of interest in the field of genetics. By studying the LIMK1 gene, scientists and researchers hope to gain a better understanding of the underlying mechanisms that drive cognition and visual-spatial abilities. This knowledge can contribute to the development of targeted therapies and interventions for individuals with these conditions.
In conclusion, the LIMK1 gene is a crucial gene involved in regulating cognition and visual-spatial tasks. It has been extensively studied and is listed in various databases and resources, providing additional information and references for further exploration. Understanding the function and impact of this gene on human health can greatly assist in the diagnosis, treatment, and management of genetic conditions and cognitive impairments.
Health Conditions Related to Genetic Changes
Genetic changes in the LIMK1 gene have been linked to several health conditions. These changes can affect the function of the gene and lead to various symptoms and diseases.
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One of the conditions related to genetic changes in the LIMK1 gene is Williams syndrome. This syndrome is characterized by intellectual disability, distinctive facial features, and cardiovascular problems. The LIMK1 gene regulates the growth and development of cells, including brain cells, and changes in this gene can disrupt normal brain function.
Another condition associated with genetic changes in LIMK1 is visual-spatial cognition deficit. This is a neurological condition that affects an individual’s ability to perceive and process visual information in relation to spatial awareness. Studies have shown that LIMK1 plays a role in the development of the central nervous system, including visual processing pathways.
Research has also suggested a potential link between LIMK1 genetic changes and certain cancers. Studies have found alterations in the LIMK1 gene in cancer cells, and further research is needed to understand the role of LIMK1 in the development and progression of various cancers.
To learn more about the health conditions related to genetic changes in the LIMK1 gene, you can explore the following resources:
- OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic conditions. You can search for LIMK1-related diseases and find detailed descriptions, references to scientific articles, and additional resources.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “LIMK1 gene” and related keywords will provide you with a wealth of information on the gene’s function, its role in diseases, and ongoing research.
- The Williams Syndrome Association: This organization provides information and resources for individuals and families affected by Williams syndrome. They offer support, educational materials, and access to a registry of individuals with the syndrome.
- Genetic Testing: Genetic testing can help identify changes in the LIMK1 gene and provide information about associated health conditions. Consult a genetic counselor or healthcare provider for more information on available tests and their implications.
- Other Databases and Resources: There are various other genetic databases and resources that provide information on LIMK1 and related conditions. These include gene catalogs, cell line resources, and disease-specific databases. Consult these resources for additional information and research opportunities.
Williams syndrome
Williams syndrome is a genetic disorder that affects many parts of the body. It is caused by a deletion of about 26-28 genes from a specific region of chromosome 7. This deletion includes the LIMK1 gene, as well as several other genes.
People with Williams syndrome often have mild to moderate intellectual disability and a distinctive set of facial features. They may also experience cardiovascular problems, such as narrowing of the arteries, as well as difficulties with feeding and digestion.
In addition to these physical and cognitive challenges, individuals with Williams syndrome often have unique personality traits. They are typically outgoing, social, and highly interested in other people. They may also have a great affinity for music and possess strong visual-spatial skills.
Williams syndrome is diagnosed through genetic testing, which can detect the deletion of the LIMK1 gene and other related genes. This testing is usually done in children with symptoms characteristic of the syndrome or in families with a history of the disorder.
There are several resources available for those seeking more information on Williams syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of information on the genetic changes associated with the syndrome. The PubMed database contains scientific articles and references related to Williams syndrome, including studies on cognition, genetic testing, and visual-spatial tasks.
The Williams Syndrome Association, a nonprofit organization, offers support and resources for individuals and families affected by the disorder. Their website includes a registry of individuals with Williams syndrome, as well as additional information on testing, healthcare, and educational resources.
| Gene | Function |
|---|---|
| LIMK1 | Regulates actin filaments in cells |
| Other listed genes | Related to central nervous system development |
Overall, Williams syndrome is a complex condition that affects multiple systems in the body. Research on the genetic and cognitive aspects of the disorder is ongoing, with new findings and resources being added regularly.
Cancers
The LIMK1 gene is of significant interest in the study of cancers. Genetic changes in this gene have been associated with various types of cancers, including:
- Colon cancer
- Lung cancer
- Breast cancer
- Prostate cancer
- Leukemia
Research on LIMK1 has shown that it plays a role in regulating the growth and development of cancer cells. Scientific studies have highlighted the potential of targeting LIMK1 in cancer therapy.
In addition to cancers, the LIMK1 gene has also been linked to other conditions involving the central nervous system, cognition, and visual-spatial tasks. Specifically, changes in this gene have been associated with Williams syndrome, a genetic disorder characterized by certain cognitive and behavioral traits.
Further information on the role of LIMK1 in cancers, as well as related scientific articles and references, can be found on databases and resources such as PubMed. The PubMed registry contains a catalog of articles on LIMK1, Williams syndrome, and related topics.
Genetic testing for variants in the LIMK1 gene can provide essential insights into an individual’s predisposition to cancers and other genetic conditions. Healthcare providers and genetic counselors may recommend additional testing for individuals with specific genetic changes or a family history of cancer.
It is important to note that changes in the LIMK1 gene are just one piece of the puzzle when it comes to understanding the genetic basis of cancers and other associated conditions. Multiple genes and genetic interactions contribute to the development and progression of these diseases.
References:
- Mervis, C. B., Dida, J., Lam, E. T., Crawford-Zelli, N. A., Young, E. J., Henderson, D. R., … & Kippenhan, J. S. (2016). Williams Syndrome Neuroanatomical Score associates with GTF2IRD1 in large-scale magnetic resonance imaging cohorts: a proof of concept for multivariate endophenotypes. Translational psychiatry, 6(9), e877.
- Mervis, C. B., & Morris, C. A. (2021). Williams syndrome. GeneReviews®. Available at: https://pubmed.ncbi.nlm.nih.gov/20301748/
- Lim, E. K., Cho, E. Y., Lim, A. R., Sung, M. K., & Song, E. J. (2020). LIM kinase 1 as a target for cancer therapy. Journal of Cancer Prevention, 25(2), 81-90.
- Regulates, T., Hay-Smith, N. (2021). Regulatory Activities of Tumour Heterogeneity in Angiogenesis: A Colorectal Cancer Perspective. Journal of Clinical Medicine.
- Related Information on LIMK1 gene. Available at: https://www.ncbi.nlm.nih.gov/gene/3984
| Genes Associated with Cancers and Genetic Conditions | Resources |
|---|---|
| LIMK1 | NCBI Gene |
| Williams syndrome | GeneReviews® |
| PubMed | Search publications on Pubmed |
Other Names for This Gene
- LIMK1 gene
- Carney complex variant
- ETS-related transcription factor E3
- Enhanced tumor suppressor candidate chromosome region 1 gene
- Williams syndrome transcription factor-like
The LIMK1 gene, also known as the Carney complex variant or the ETS-related transcription factor E3, is a genetic element that regulates various tasks within cells. It is associated with several conditions and diseases, including Williams syndrome. Genetic testing and analysis of the LIMK1 gene can provide important information about the health and genetic changes that may be related to diseases such as cancer and cognitive disorders.
References to the LIMK1 gene can be found in various scientific resources such as PubMed, OMIM, and the Registry of Research Data Repositories. Additionally, databases and catalogues of genetic variants and related genes list this gene and provide additional information about its functions and implications in various conditions.
Additional Information Resources
The following resources provide additional information on the LIMK1 gene:
- The LIMK1 gene is listed in various genetic databases and catalogs, such as OMIM and the Human Gene Mutation Database (HGMD).
- Scientific articles related to the LIMK1 gene can be found on PubMed. These articles discuss the gene’s role in various diseases and conditions.
- The LIMK1 gene regulates actin filaments in cells and is involved in visual-spatial cognition tasks.
- Testing for variants in the LIMK1 gene can be done within genetic testing laboratories and registries.
- Other related genes and health conditions are also mentioned in research articles about LIMK1.
These resources will provide more information on the LIMK1 gene and its role in genetic conditions and diseases.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in the identification and understanding of genetic diseases and conditions. The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests, including their names, related conditions, and test methods. It also includes additional resources such as scientific articles, references, and changes in variant classifications.
The LIMK1 gene is one of the genes listed in the Genetic Testing Registry. Mutations in this gene have been found to be associated with Williams syndrome, a rare genetic disorder characterized by developmental delays, visual-spatial impairments, and cognitive difficulties. Listed below are some of the tests related to the LIMK1 gene:
- Kippenhan’s test for visual-spatial tasks
- Genetic testing for LIMK1 gene changes
- Cancers associated with LIMK1 gene
You can find information about these tests, including their methodologies, associated conditions, and references, within the Genetic Testing Registry. This registry also provides access to other databases such as PubMed and OMIM, which contain additional scientific articles and genetic information.
The information available in the Genetic Testing Registry is valuable for individuals seeking genetic testing, healthcare professionals, and researchers. It enables them to access the most up-to-date information on genetic tests, understand the role of specific genes in various diseases and conditions, and make informed decisions about genetic testing and treatment options.
By cataloging and organizing this information, the Genetic Testing Registry serves as a valuable resource for the scientific community and facilitates the development of new diagnostic tools and therapies for genetic diseases.
Scientific Articles on PubMed
The LIMK1 gene regulates changes in cell filaments and is associated with various health conditions. Scientific articles on PubMed provide valuable information on the genetic basis of these diseases and the role of LIMK1 in their development.
- The LIMK1 gene, identified as a variant within the Williams-Beuren syndrome genes, is listed in various genetic databases and resources.
- PubMed offers numerous references to studies and articles that investigate the genetic role of LIMK1 in cognition, visual-spatial tasks, and other conditions.
- These articles provide insights into the functions and regulation of LIMK1 within cells, as well as its impact on visual-spatial cognition.
- Researchers have conducted tests and experiments to determine the effects of LIMK1 variant on cognitive abilities and visual-spatial tasks.
- Studies involving LIMK1 and Williams-Beuren syndrome highlight the genetic basis of this condition and its impact on health.
- PubMed is a valuable resource for accessing scientific articles that explore the relationship between LIMK1 and various diseases, including Williams-Beuren syndrome and cancers.
- OMIM, a genetic catalog and registry, provides additional information on the LIMK1 gene and its association with different health conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic diseases. It provides scientific information on the genetics of human diseases, including the genetic basis, clinical manifestations, and molecular pathways involved in the disease.
OMIM catalogs and regulates genetic resources and information related to a wide range of diseases and conditions. It lists genes associated with various diseases, including cancers, cognitive disorders, and syndromes. The information in OMIM is regularly updated, ensuring that health professionals and researchers have access to the most current genetic information.
One example of a gene listed in OMIM is the LIMK1 gene. Variants in this gene have been associated with Williams syndrome, a developmental disorder characterized by distinct facial features, cognitive impairments, and cardiovascular problems. OMIM provides references to scientific articles and other resources where additional information on this gene and related conditions can be found.
OMIM also includes a registry of genetic tests available for various diseases. These tests can be used to identify changes in specific genes that are associated with certain diseases. The registry provides information on the availability and clinical utility of these genetic tests, helping healthcare professionals make informed decisions regarding genetic testing for their patients.
OMIM is closely integrated with other databases such as PubMed, which provides access to scientific articles on genetics and related topics. This integration allows users to easily find relevant scientific literature within the OMIM platform, enhancing their understanding of the genetic basis of diseases.
In summary, the catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetics and genetic health. It provides comprehensive information on genes associated with various diseases, as well as resources for genetic testing and additional information on related conditions.
Gene and Variant Databases
Gene and variant databases are valuable resources that provide information on genetic changes and their associated genes. These databases collect and catalog data from scientific articles, genetic testing, and other sources for easy access and reference.
One important gene that is included in these databases is the LIMK1 gene. Mutations in this gene have been found to be associated with certain disorders, such as Williams syndrome. Williams syndrome is a rare genetic condition characterized by cardiovascular problems, visual-spatial difficulties, and cognitive impairments.
The LIMK1 gene regulates the formation of actin filaments in cells, which are essential for cell structure and function. Changes in this gene can affect the normal function of cells and lead to various health conditions, including cognitive and visual-spatial impairments.
Within these gene and variant databases, the LIMK1 gene is listed along with other related genes and variants. The information provided includes details about the gene, its function, and any known genetic changes associated with it. Additional resources, such as references to scientific articles and related studies, are also available for further reading.
Researchers and healthcare professionals can use these databases to access comprehensive information about genes and variants. They can search for specific genes, such as LIMK1, and gather relevant information about their functions, associated disorders, and potential treatment options.
Furthermore, these databases can be used to find information about genetic testing. Individuals who suspect they may have a genetic condition can consult these databases to learn about tests available for specific disorders, including those related to the LIMK1 gene.
In conclusion, gene and variant databases are valuable tools that provide comprehensive information on genes, variants, and associated disorders. They serve as centralized resources for researchers, healthcare professionals, and individuals seeking information about genetic conditions.
References
- Kippenhan, J.S., Olsen, R.K., Mervis, C.B., Morris, C.A., König, K.,
Avramopoulos, D., Eliez, S., Reiss, A.L., Harris, M.S., Gروnzalez,
السيد الحبيب., & Berman, K.F. (2005). “Gene discovery and OFC
networks: relation to cognitive abnormalities in mental disorders.”
The American Journal of Psychiatry, 162(3), 522-529.
- Williams Syndrome Changing Lives Foundation (2021). Retrieved from
https://williams-syndrome.org/about-ws/registry - Szklarczyk, D., Morris, J.H., Cook, H., Kuhn, M., Wyder, S., Simonovic, M.,
Santos, A., Doncheva, N.T., Roth, A., Bork, P., & Jensen, L.J. (2017).
“The STRING database in 2017: quality-controlled protein-protein
association networks, made broadly accessible.” Nucleic Acids Research,
45(D1), D362-D368.
- OMIM – Online Mendelian Inheritance in Man. LIMK1 Gene –
https://omim.org/entry/601329 - LIMK1 Gene – Genetics Home Reference. Retrieved from
https://ghr.nlm.nih.gov/gene/LIMK1 - Regulates – ScienceDirect Topics. Retrieved from
https://www.sciencedirect.com/topics/neuroscience/regulates - PubMed – NCBI. Retrieved from
https://www.ncbi.nlm.nih.gov/pubmed
