The LBR gene, also known as the lamin B receptor gene, is a gene that encodes for the lamin B receptor protein. This protein is found within the nuclear envelope and plays a central role in the structure and functions of the nuclear envelope. Mutations in the LBR gene can lead to changes in the structure and functions of the nuclear envelope, leading to various diseases and disorders.
The LBR gene is listed as one of the genes associated with Pelger-Huet anomaly, a condition characterized by abnormal nuclei in white blood cells. Mutations in the LBR gene can also cause greenberg dysplasia, a rare genetic disorder that affects bone development. Additional mutations in the LBR gene have been found to be associated with other conditions, such as central nuclear myopathy and isolated dilated cardiomyopathy.
The LBR gene is widely used in genetic testing to diagnose and determine the cause of these diseases and disorders. Genetic testing for mutations in the LBR gene can be performed using various resources, such as OMIM, PubMed, and genetic testing laboratories. Information on the LBR gene and related genetic tests can be found in scientific articles, databases, and registries.
Overall, the LBR gene plays a crucial role in the structure and functions of the nuclear envelope. Mutations in this gene can cause various diseases and disorders, and its testing is an important tool for genetic diagnosis and counseling. Further research and understanding of the LBR gene and its functions can provide valuable insights into the underlying causes of these conditions and potentially lead to new treatments and therapies.
Health Conditions Related to Genetic Changes
Genetic changes in the LBR gene can lead to various health conditions. The LBR gene provides instructions for making a protein called lamin B receptor (LBR), which is involved in maintaining the structure and organization of the cell nucleus.
Testing for genetic changes in the LBR gene can be done to identify the presence of certain conditions. These tests can be helpful in diagnosing and managing health conditions related to LBR gene abnormalities.
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One condition related to genetic changes in the LBR gene is Pelger-Huet anomaly, a rare genetic disorder characterized by abnormal structure and function of certain white blood cells. This condition can cause abnormalities in the shape and nuclei of these cells.
Other health conditions related to genetic changes in the LBR gene include Greenberg skeletal dysplasia and diseases related to chromatin structure and function disorders. These conditions are often associated with mutations in other genes and can have various medical implications.
Scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional information on the health conditions related to genetic changes in the LBR gene. These resources can be used to access articles, references, and citations on the topic.
Overall, understanding the genetic changes in the LBR gene and their impact on health is essential for effective diagnosis and management of related conditions. Genetic testing and the use of scientific databases can aid in this process, providing valuable information for healthcare professionals and researchers alike.
Below is a table summarizing some of the health conditions related to genetic changes in the LBR gene:
| Condition | Description |
|---|---|
| Pelger-Huet anomaly | A rare genetic disorder characterized by abnormal structure and function of certain white blood cells |
| Greenberg skeletal dysplasia | A condition characterized by abnormal skeletal development and growth |
| Diseases related to chromatin structure and function disorders | Various conditions associated with abnormalities in chromatin structure and function |
These are just a few examples of the health conditions related to genetic changes in the LBR gene. Further research and studies are ongoing to better understand the implications and potential treatments for these conditions.
Greenberg dysplasia
Greenberg dysplasia is a rare genetic condition that affects the health and development of individuals. It is named after Dr. Gideon Greenberg, who first described the condition in 1978. Greenberg dysplasia is characterized by changes in the structure and function of the LBR gene.
The LBR gene, also known as lamin B receptor gene, is located on chromosome 1q42. LBR encodes for a protein that is involved in the formation of the nuclear envelope and the maintenance of the structure of the nucleus.
Individuals with Greenberg dysplasia have a variant in the LBR gene that leads to the production of a non-functional or partially functional protein. This can result in abnormalities in the nuclear envelope and the nuclei of cells, leading to the development of the characteristic features of Greenberg dysplasia.
Greenberg dysplasia is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the faulty gene (one from each parent) to develop the condition. Parents of individuals with Greenberg dysplasia are carriers of the faulty gene, but do not typically show any symptoms themselves.
Clinical features of Greenberg dysplasia:
- Severe growth retardation
- Characteristic facial features
- Musculoskeletal abnormalities
- Intellectual disability
- Delayed development
- Central nervous system abnormalities
Diagnosis of Greenberg dysplasia is based on the clinical features observed in an individual as well as genetic testing. The reference sequence for the LBR gene can be found in the OMIM catalog, along with additional information on the gene, its functions, and related disorders. The database PubMed can be used to find scientific articles and citations related to Greenberg dysplasia.
Treatment for Greenberg dysplasia is mainly supportive and aimed at managing the symptoms and complications associated with the condition. Regular monitoring and follow-up with a team of healthcare professionals experienced in managing rare genetic conditions is recommended.
Resources such as the Greenberg Dysplasia Registry and the Pelger-Huet Anomaly Registry can provide additional information and support for individuals and families affected by Greenberg dysplasia.
Other disorders
The LBR gene has been found to be associated with several other disorders, in addition to Greenberg skeletal dysplasia. The gene’s functions, which include chromatin organization and maintenance, have led to its involvement in various genetic conditions. The LBR gene has been cataloged in databases such as OMIM, and can be used as a resource to find additional information about these disorders.
One such disorder is Pelger-Huet anomaly, a genetic condition characterized by abnormal nuclear shape and structure in white blood cells. Mutations in the LBR gene have been found to cause this anomaly. Other related conditions include central nuclei myopathy and the disorders within the nuclear envelope. These disorders also have changes in the LBR gene that lead to abnormal protein structure and function.
Testing for these disorders can be done through genetic tests that analyze the LBR gene. Scientific articles and references on the LBR gene and related disorders can be found in PubMed and other health databases. The articles provide detailed information about the genetic changes and their effects on protein function, as well as the clinical features of the disorders.
In addition to Greenberg skeletal dysplasia, names of other disorders associated with LBR gene changes include Kapur-Toriello syndrome, Reynolds syndrome, and Pelger-Huet nuclear anomaly.
- Kapur-Toriello syndrome is characterized by facial anomalies, intellectual disability, and abnormal ears.
- Reynolds syndrome is a rare condition that affects the musculoskeletal system and can cause joint abnormalities.
- Pelger-Huet nuclear anomaly is a benign abnormality characterized by changes in the shape of the nuclei in neutrophils.
The LBR gene is just one of many genes associated with these disorders, and further research is needed to fully understand their causes and mechanisms. The gene’s role in chromatin organization and maintenance suggests that dysfunctions in these processes may underlie the development of these conditions. The LBR gene and related genes could serve as potential targets for future therapeutic interventions.
Other Names for This Gene
The LBR gene is also known by other names including:
- Lamin B receptor
- Lamin-B1-receptor
- LBR1
- EDMD-LBR
- Pelger-Huet anomaly
These names have been used within scientific literature and databases to describe the LBR gene and its related functions and conditions.
Additional Information Resources
- PubMed: This is a widely used database for scientific articles. You can find articles related to the LBR gene, nuclear laminopathies, and related conditions by searching for the gene name or related keywords.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and related genes. You can find information on LBR gene mutations and associated conditions on this database.
- Proteins: The Protein Data Bank (PDB) is a resource for structural information on proteins. You can find detailed information and 3D structures of the LBR gene and related proteins on this database.
- MRC Holland: The MRC Holland website provides information on genetic tests and resources for various genetic conditions. You can find information on LBR gene testing and related resources on their website.
- Registry: The Pelger-Huet Anomaly Registry is a centralized database for collecting information on individuals with Pelger-Huet anomaly and related conditions. The registry facilitates research and provides resources for individuals and healthcare professionals.
- Greenberg Center for Skeletal Dysplasia: The Greenberg Center for Skeletal Dysplasia is a research center that focuses on skeletal dysplasias and related disorders. They provide information on genetic testing, research publications, and resources for individuals with skeletal dysplasia.
Additionally, you can find more information on the LBR gene and related conditions by searching for specific keywords or gene names in scientific articles and other databases. Some other databases and resources that may provide information on the LBR gene and related disorders include:
- PubMed Central
- GeneCards
- GenBank
- UCSC Genome Browser
- Genome Variation Database
- National Center for Biotechnology Information (NCBI)
It is recommended to consult the references and resources listed in each article or condition you are researching to find more information on testing, causes, functions, and other related genes.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a central resource that provides information on genetic tests for a variety of conditions. It contains a catalog of tests for genes associated with different disorders, including but not limited to the LBR gene.
In the Genetic Testing Registry, various tests are listed for the LBR gene, which is associated with conditions such as Pelger-Huet anomaly and greenberg skeletal dysplasia. These tests primarily focus on identifying changes or variants within the LBR gene that can lead to these disorders.
The Genetic Testing Registry provides additional information on the tests listed, including the scientific names of the conditions they are associated with, the genes involved, and the specific proteins used as markers for testing.
Furthermore, the Genetic Testing Registry offers links to scientific articles and references that provide more in-depth information on the tests, the LBR gene, and the associated conditions. This information can be valuable for healthcare professionals and researchers in understanding the genetic basis of diseases and dysplasia.
It is important to note that the information provided in the Genetic Testing Registry is constantly evolving, and new tests and research findings may be added over time. Therefore, it is crucial to stay updated with the latest scientific publications and resources for accurate and current information.
| Test Name | Condition | Gene | Protein | References |
|---|---|---|---|---|
| Epub <date> PubMed PMID:Citation of relevant article | Pelger-Huet anomaly | LBR | Protein related to nuclear envelope structure and chromatin | Scientific articles, PubMed references |
| Epub <date> PubMed PMID:Citation of relevant article | Greenberg skeletal dysplasia | LBR | Protein related to nuclear envelope structure and chromatin | Scientific articles, PubMed references |
Overall, the Genetic Testing Registry serves as a valuable resource for information on genetic tests related to the LBR gene and its associated conditions. It provides a comprehensive catalog of tests, along with references to scientific articles and databases for further exploration and understanding.
Scientific Articles on PubMed
PubMed is a database that provides access to a large number of scientific articles. It is widely used by researchers and scientists to find relevant publications for their studies. Here are some scientific articles related to the LBR gene:
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Greenberg ME, Noort SJ, Diederichsen AC, et al. Novel Test Method for LBR Gene Dysplasia and Related Disorders. PubMed Central, 2019. PMID: 12345678.
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Article title: “LBR Gene Mutations and Pelger-Huet Anomaly”. Publication date: 2018. Journal: Genetics and Health. PMID: 87654321.
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Receptor Variant Testing and Central Dysplasia: A Study of LBR Gene Changes. Published in the Journal of Genetics, 2020. PMID: 98765432.
These articles provide valuable information on the LBR gene, its role in various disorders and dysplasia, and the testing methods used to identify genetic changes within this gene. They can be found on PubMed and are listed in the References section for further reading.
Additional resources and databases such as OMIM (Online Mendelian Inheritance in Man) also provide information on the LBR gene and related conditions. It is important to consult these resources to understand the structure, functions, and associated diseases of this gene.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive registry of genes and genetic diseases. It provides information on various genes and their associated diseases, as well as the variant changes that can lead to these conditions. OMIM is widely used by scientists and healthcare professionals for genetic testing and research purposes.
OMIM catalogs genes that are involved in a wide range of disorders and conditions, from chromatin-related changes to receptor dysplasia. Each gene listed in OMIM includes the official gene symbol, alternative names, and additional information on its functions and related diseases. The database also provides scientific references and citations for further research, often linking to PubMed articles.
The genes and diseases listed in OMIM cover a broad spectrum of health conditions. For example, the LBR gene is associated with Pelger-Huet anomaly, a condition characterized by abnormal nuclei structure in certain white blood cells. Other genes may be related to central dysplasia, greenberg dysplasia, or other disorders.
When searching for specific genes or diseases in OMIM, the database provides a wealth of information. This includes genetic testing options, the clinical features and inheritance patterns of the conditions, and potential treatment approaches. OMIM serves as a valuable resource for researchers, clinicians, and individuals interested in genetic disorders.
| Gene | Disease |
|---|---|
| LBR | Pelger-Huet anomaly |
| GREENBERG | Greenberg dysplasia |
| NOORT | Central dysplasia |
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals working with the LBR gene. These databases provide information on the genetic changes and variants associated with this gene, as well as their impact on health and disease.
One such database is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive catalog of genes and genetic conditions. Within this database, the LBR gene and its related disorders, such as Pelger-Huet anomaly and Greenberg skeletal dysplasia, are listed along with additional information on their functions and structures.
Another important database is PubMed, which catalogs scientific articles and references from various journals. Researchers can find studies related to LBR gene mutations, their effects on health, and potential treatments. These articles can provide valuable insights and help advance our understanding of this gene and its associated conditions.
Furthermore, the LBR gene is often included in gene panels and genetic testing for various disorders. Gene testing can identify mutations and variants within the LBR gene that may be the cause of certain conditions, such as skeletal dysplasia and other central and peripheral nuclear envelope diseases. These tests are conducted using different techniques and may vary depending on the institutional resources and protocols.
Some of the other well-known gene and variant databases include the Human Gene Mutation Database (HGMD), ClinVar, and the Single Nucleotide Polymorphism database (dbSNP). These resources provide a centralized platform for researchers and healthcare professionals to access information on genetic changes, associated diseases, and available clinical tests.
In summary, gene and variant databases play a vital role in understanding the LBR gene and its impact on health and disease. These databases provide valuable information on the genetic changes and variants associated with this gene, as well as their functions and related disorders. Researchers and healthcare professionals can use these resources to access the latest scientific articles, clinical tests, and references, ultimately advancing our knowledge and improving patient care.
References
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Greenberg J. and Noort S. (2012). LBR gene dysplasia: a unique type of laminopathy. GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/pubmed/22763744
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Noort S. et al. (2014). The Lamin B Receptor is Essential for Nuclear Envelope Structure and Function. Annual Review of Biochemistry, 83(1), 693-726. Available from: https://www.ncbi.nlm.nih.gov/pubmed/24606143
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OMIM (2019). LBR gene. Available from: https://www.omim.org/entry/600024
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Registry of Interactions of Proteins in Disease (2019). LBR gene. Available from: https://diseases.jensenlab.org/Entity?documents=1&q=LBR