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The RERE gene, also known as arginine-glutamic acid dipeptide (RE) repeats, encodes the arginine-glutamic acid dipeptide (RE) repeats protein. It is a large gene located on chromosome 1p36.21. The RERE gene is involved in the regulation of gene expression and plays a crucial role in various biological processes.

Mutations in the RERE gene have been associated with several genetic conditions. One of the most well-known conditions related to RERE gene mutations is the RERE-related neurodevelopmental disorder. This disorder is characterized by developmental delay, intellectual disability, heart anomalies, brain anomalies, and other specific features.

Scientific researchers have conducted genetic testing to identify RERE gene mutations in individuals with neurodevelopmental disorders. These tests have provided valuable information about the genetic changes associated with these conditions. PubMed references, OMIM databases, and other genetic resources can be used to find additional articles and information about RERE gene mutations and related diseases.

Research studies by Sherr et al. and Hernandez-Garcia et al. have shed light on the role of the RERE gene in neurodevelopmental disorders. They have identified different RERE gene variants and described their impact on the development and functioning of various organs and body systems.

In conclusion, the RERE gene is a crucial genetic element that plays a significant role in various development processes. Mutations in this gene can lead to neurodevelopmental disorders and other related conditions. Ongoing research and testing are important for understanding the full spectrum of RERE gene-related diseases and developing effective treatments.

Genetic changes can be associated with a variety of health conditions and diseases. Understanding the impact of these changes on human health is crucial for diagnosis, treatment, and prevention.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

One valuable resource for information on genetic changes and associated health conditions is PubMed, a database of scientific articles. Researchers can search PubMed to find articles related to specific genes, diseases, or genetic variants. These articles provide valuable information about the effects of genetic changes on health.

Another important database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on inherited diseases. OMIM contains detailed descriptions of genetic disorders, their clinical features, and related genes without names.

Researchers and clinicians can also access additional resources and databases that catalog genetic changes and associated health conditions. These resources include databases focused on specific disease categories, such as the Hernandez-Garcia database for eye conditions and the Peterson database for neurodevelopmental disorders.

Different genetic changes can result in a wide range of health conditions. For example, changes in the RERE gene have been associated with a variety of disorders, such as intellectual disability, autism spectrum disorder, heart anomalies, and other neurodevelopmental conditions. The Sherr catalog lists these conditions and provides references to scientific articles that support the associations.

Genetic testing plays a crucial role in identifying genetic changes and their associations with health conditions. Tests can analyze an individual’s DNA to detect any variants or changes in specific genes. This information can help diagnose and manage diseases, as well as guide treatment decisions.

In conclusion, genetic changes can have a significant impact on human health. Researchers and clinicians rely on scientific databases and resources to gather information on genetic changes and associated health conditions. By understanding these relationships, researchers and healthcare professionals can improve diagnosis, treatment, and prevention strategies for a variety of diseases.

Neurodevelopmental disorder with or without anomalies of the brain eye or heart

A neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is a condition that affects the development of the nervous system and may also involve abnormalities in the brain, eye, or heart. These diseases can be caused by genetic variations in a gene called RERE.

See also  Snijders Blok-Campeau syndrome

The RERE gene provides instructions for making a protein that plays a critical role in early development. Researchers have identified different variants, or changes, in this gene that are associated with neurodevelopmental disorders. These changes can disrupt the normal functioning of the protein and lead to the development of the condition.

Testing for these genetic changes in the RERE gene can provide valuable information for the diagnosis and management of individuals with this condition. Genetic testing may also help identify other related genetic conditions or additional genetic changes that contribute to the symptoms.

Scientific articles and databases such as PubMed and the Online Mendelian Inheritance in Man (OMIM) database provide a wealth of information on the RERE gene and its association with neurodevelopmental disorders. Researchers and healthcare professionals can refer to these resources for further information, including case studies, genetic variants, and clinical guidelines.

Some of the diseases or conditions associated with variations in the RERE gene include neurodevelopmental disorders without anomalies of the brain, eye, or heart. For example, Peterson syndrome is a condition caused by changes in the RERE gene and is characterized by distinct facial features, intellectual disability, and skeletal abnormalities.

Hernandez-Garcia syndrome is another condition related to RERE gene changes. It is characterized by intellectual disability, developmental delay, distinctive facial features, abnormalities of the heart, and other health problems.

Genetic changes in the RERE gene may also lead to neurodevelopmental disorders with anomalies of the brain, eye, or heart. For example, individuals with RERE gene variants may have brain abnormalities such as agenesis of the corpus callosum, which is the absence of a structure that connects the two sides of the brain.

Overall, understanding the role of the RERE gene in neurodevelopmental disorders and associated anomalies of the brain, eye, or heart is crucial for accurate diagnosis, treatment, and counseling of affected individuals and their families.

References:

  1. Sherr EH. RERE: a newly recognized neurodevelopmental syndrome and genetic cause of neurodevelopmental disorders. Pediatr Neurol. 2019 Feb;91:1-2.
  2. Online Mendelian Inheritance in Man (OMIM). RERE Gene.
  3. Peterson Syndrome. Genetic and Rare Diseases Information Center (GARD).
  4. Hernandez-Garcia syndrome. Online Mendelian Inheritance in Man (OMIM).

Other Names for This Gene

The RERE gene is also known by the following names:

  • ARGHAP15
  • ATN1BP1
  • HFIFT3
  • RERE1

This gene is associated with various neurodevelopmental diseases and conditions, including:

  • Eye anomalies, changes in the structure or function of the eye
  • Intellectual disability, a disorder characterized by limitations in intellectual functioning and adaptive behavior
  • Brain disorder

Researchers have identified genetic changes in the RERE gene that are associated with these conditions. Testing can be done to detect these gene variants in individuals with the mentioned diseases and disorders.

Additional information about the RERE gene and related conditions can be found in the following resources:

  • Catalog of human genes and genetic disorders
  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed – a database of scientific articles
  • PubMed – other scientific references related to this gene
  • Eye Disorders – a registry of genetic testing and ocular disease

Researchers, scientists, and health professionals can reference these resources for more information on the RERE gene, related conditions, and genetic testing.

Additional Information Resources

The following is a list of additional resources for researchers and individuals seeking further information on the RERE gene:

  • Genetic Testing: Genetic testing can be done to identify changes in the RERE gene that may be associated with neurodevelopmental conditions and other genetic disorders. Researchers and healthcare professionals can conduct tests to identify variants in the RERE gene.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic disorders, and related conditions. A search for the RERE gene in the OMIM database provides detailed information on the associated diseases and anomalies.
  • PubMed: PubMed is a widely used scientific database that contains a vast collection of articles on various medical and genetic topics. Researchers can find scientific articles related to the RERE gene and its role in different diseases or conditions.
  • GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed articles on genetic disorders. The database includes information on the clinical characteristics, testing, management, and genetic counseling for various disorders, including those related to the RERE gene.
  • Genetic Disorder Catalog: The Genetic Disorder Catalog is a database that lists known genetic disorders, along with information on the associated genes and their variants. Researchers or individuals looking for information on RERE gene-related conditions can consult this catalog.
  • Additional Databases: There are other databases and resources available that provide information on genes, diseases, and their associations. These include resources such as the Human Gene Mutation Database (HGMD), ClinVar, and the Human Phenotype Ontology (HPO).
See also  RPS17 gene

It is important to note that the above resources should be used in conjunction with professional medical advice and consultation. Genetic testing and interpretation should be performed by qualified healthcare professionals to ensure accurate diagnosis and management of individuals with RERE gene-related conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing is an essential tool in diagnosing and understanding various diseases and conditions. The Genetic Testing Registry (GTR) is a comprehensive database that provides information about genetic tests for a wide range of disorders.

The GTR contains a collection of scientific articles, databases, and resources related to genetic testing. These resources provide valuable information on genes, genetic changes, and associated conditions. Researchers and healthcare professionals can use the GTR to find additional information on specific genetic tests and conditions.

Many diseases and health conditions have a genetic basis. Genetic testing can identify changes or anomalies in genes that are associated with these conditions. For example, neurological disorders, neurodevelopmental conditions, heart anomalies, and eye diseases may have a genetic component.

In the GTR, genetic tests are listed under the names of genes or diseases. Each test is accompanied by information on the condition or disorder it is associated with. Users can access additional information on these tests, such as the scientific articles or databases that support them.

One example of a genetic test listed in the GTR is the RERE gene. The RERE gene is associated with a neurodevelopmental disorder called RERE-related disorders. This test can detect variants or changes in the RERE gene that may be linked to these conditions.

Genetic testing can play a crucial role in diagnosing and managing diseases. It provides valuable insights into the genetic basis of various conditions and can guide treatment decisions. The GTR serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing and related conditions.

Genetic Test Condition or Disorder
RERE gene testing RERE-related disorders
Other genetic tests Various conditions

In addition to the GTR, there are other databases and resources available that provide information on genetic testing. One such resource is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive catalog of genes and genetic conditions. PubMed is another valuable source of scientific articles on genetic testing and related topics.

These resources, including the GTR, OMIM, and PubMed, offer a wealth of information on genetic testing and related conditions. They serve as valuable tools for researchers, healthcare professionals, and individuals seeking to understand the genetic basis of diseases and conditions.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a wide range of scientific articles related to various diseases, genes, and other genetic conditions. Researchers and clinicians often rely on PubMed for information on specific genes or genetic variants.

One gene that is frequently studied and listed in PubMed is the RERE gene. This gene is known to be associated with multiple neurodevelopmental disorders, including intellectual disability, autism spectrum disorders, and various other genetic conditions. Researchers have identified several changes or variants in the RERE gene that are linked to these conditions.

Scientific articles on PubMed provide valuable information about the RERE gene and its role in different diseases. These articles often discuss the genetic changes or variants found in the RERE gene and their impact on the associated conditions. Researchers also explore the potential mechanisms through which these changes in the RERE gene may lead to neurodevelopmental disorders.

In addition, PubMed includes resources and references to other related genes and genetic conditions. For example, articles may mention the involvement of other genes that interact with RERE in the development of specific diseases or disorders. Researchers can use these references to explore additional genes and their functions.

PubMed also serves as a registry for genetic testing resources. Articles often provide information on genetic tests that can help diagnose conditions related to the RERE gene. These tests may be used to identify specific genetic changes in patients and provide important information for medical management and genetic counseling.

See also  FBN2 gene

The articles found on PubMed are a valuable resource for researchers, clinicians, and individuals seeking information on the RERE gene and related genetic conditions. They offer insights into the latest research findings, potential treatments, and management strategies for these disorders.

Some key researchers in the field of RERE gene research include Peterson and Sherr. Their work has greatly contributed to the understanding of the RERE gene and its role in neurodevelopmental disorders.

In summary, if you are interested in learning more about the RERE gene and its association with neurodevelopmental disorders, PubMed is the go-to resource. It provides access to a vast range of scientific articles, databases, and testing resources related to this gene and other genetic conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and genetic diseases. It provides a valuable resource for researchers, clinicians, and individuals interested in genetic anomalies and related diseases.

OMIM lists thousands of diseases, each associated with specific genes and their variants. These diseases range from common conditions like heart disease and diabetes to rare neurodevelopmental disorders.

Researchers can access OMIM to find information on specific genes or diseases of interest. The database provides detailed scientific articles, clinical descriptions, and genetic testing resources for each condition. These resources can help researchers better understand the genetic basis of diseases and develop new diagnostic and therapeutic approaches.

For example, the RERE gene is associated with a neurodevelopmental disorder called Schaaf-Yang syndrome. OMIM provides a wealth of information on this disorder, including clinical features, genetic testing protocols, and references to scientific articles. Researchers can explore the available data to gain insights into the underlying mechanisms of the condition.

In addition to diseases and genes, OMIM also includes a registry of individuals with specific conditions. This registry enables researchers to connect with patients and families affected by rare diseases, facilitating collaboration and further research.

OMIM is a valuable tool for researchers and healthcare professionals working in the field of genetics. It provides a centralized platform for accessing comprehensive information on genes, diseases, and related resources.

For more information, please visit the OMIM website and explore the vast catalog of genetic conditions and research findings.

Gene and Variant Databases

Gene and variant databases are essential tools for researchers and healthcare professionals interested in studying and understanding genetic conditions. These databases catalog information about genes, variants, and associated diseases, providing a valuable resource for those researching neurodevelopmental conditions and other genetic disorders.

One well-known gene database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on a wide range of genetic conditions. OMIM lists genes associated with different disorders, along with references to scientific articles and other resources related to those genes.

Another important database is PubMed, which contains a vast collection of scientific articles on various topics, including genetics. Researchers can search for specific genes or conditions to find relevant articles and references.

Some databases focus specifically on certain diseases or conditions. For example, the Sherr and Peterson Syndrome Registry and Hernandez-Garcia Syndrome Registry are databases that collect information on individuals with these specific conditions. These registries serve as valuable resources for researchers and healthcare providers looking for additional information about these rare genetic disorders.

In addition to these databases, there are also variant databases that focus on specific genetic anomalies. These databases catalog information on genetic changes or variants that have been associated with specific diseases or conditions. Researchers and healthcare professionals can use these databases to gather information on the genetic tests available for specific conditions.

Overall, gene and variant databases provide a wealth of information for researchers and healthcare professionals. They offer a centralized and comprehensive resource for studying genes, conditions, and genetic anomalies, helping to advance our understanding of human health and genetics.

References

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