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The CRX gene, also known as Cone-rod homeobox gene, is a crucial gene associated with various retinal diseases and conditions. The gene was first identified and characterized in scientific literature, with several publications available on PubMed. The most cited article related to CRX gene is “Genetic testing of CRX and additional genes in inherited retinal diseases: from clinical diagnostic dDatabases to therapeutic strategies” by Huang et al. Their study provides valuable information on the role of CRX gene mutations in causing retinal dystrophy, retinitis pigmentosa, and cone-rod dystrophy.

Studies have shown that mutations in the CRX gene can lead to cone-rod dystrophy, Leber congenital amaurosis, and other retinal conditions. This gene is essential for the development and maintenance of cones in the retina, which are responsible for color vision and visual acuity. Genetic testing for variants in the CRX gene is crucial for the accurate diagnosis of these diseases and for providing appropriate medical care and treatment.

In addition to the CRX gene, there are several other genes associated with retinal diseases and conditions. The OMIM database and other genetic resources list these genes, providing researchers and healthcare professionals with a comprehensive catalog of genetic information. This allows for better understanding of the genetic basis of retinal diseases and conditions and facilitates the development of targeted therapies.

This article aims to provide an overview of the CRX gene, its role in retinal diseases, and the resources available for genetic testing and research. The references and related articles listed in this article provide additional information and scientific evidence on this topic, making it a valuable resource for genetic health professionals and researchers in the field of ophthalmology.

Genetic changes can cause a variety of health conditions. These changes can occur in different genes and can lead to various diseases and disorders. Understanding the genetic basis of these conditions is crucial for their diagnosis and treatment.

One of the databases that provides information on genetic changes and related health conditions is OMIM (Online Mendelian Inheritance in Man), which includes a catalog of genes and genetic variants associated with different diseases.

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For example, genetic changes in the CRX gene can cause retinitis pigmentosa, cone-rod dystrophy, Leber congenital amaurosis, and other retinal diseases. These conditions affect the function of the retina, leading to vision loss and impairment.

The CRX gene, as well as other genes related to retinal diseases, can be searched in databases such as PubMed, which provides scientific articles and references on these genes and their associated conditions. Additional resources, such as the RetNet database, provide information on genes associated with retinal diseases and related conditions.

Genetic testing is needed to diagnose these conditions accurately. Testing can identify genetic changes in the CRX gene and other genes related to retinal diseases. This information can help in determining the cause of the condition and developing appropriate treatment plans.

Genetic testing for retinal diseases can be performed at specialized laboratories and can involve sequencing the genes of interest. The results of the testing can help in identifying the specific genetic variant present in an individual and can guide the management of the condition.

It is important to note that genetic changes in the CRX gene and other genes related to retinal diseases are not the only cause of these conditions. Other factors, such as environmental influences and interactions with other genes, may also contribute to the development of these diseases.

In conclusion, genetic changes in the CRX gene and other genes related to retinal diseases can cause various health conditions affecting the retina. Understanding the genetic basis of these conditions is crucial for their diagnosis and treatment. Genetic testing and resources such as OMIM and PubMed provide valuable information on these genes and their associated conditions.

Cone-rod dystrophy

Cone-rod dystrophy is a genetic disease that affects the retina. It is characterized by changes in the cones and rods, which are the photoreceptor cells responsible for vision. This condition can cause vision loss, color blindness, and other visual impairments.

The CRX gene provides instructions for making a protein that is involved in the development and maintenance of the retina. Variants in this gene can cause cone-rod dystrophy. The exact cause of this condition is not fully understood, but it is believed to be related to a combination of genetic and environmental factors.

There are several other genes that have been linked to cone-rod dystrophy, including the RPE65, RPGRIP1, and AIPL1 genes. These genes play a role in the health and function of the retina.

Additional information about cone-rod dystrophy can be found in the OMIM database, which provides a comprehensive catalog of genes and genetic conditions. The OMIM entry for cone-rod dystrophy is listed under the name “Retinitis pigmentosa, Leber congenital amaurosis, and other conditions.” This entry provides a citation to the scientific articles and references needed for further reading.

See also  PMM2 gene

Genetic testing is available for cone-rod dystrophy. This can help confirm a diagnosis and provide information about the specific genetic changes causing the condition. The GeneTests website provides a list of laboratories that offer genetic testing for cone-rod dystrophy.

Resources for cone-rod dystrophy can also be found in the PubMed and Epub databases. These databases contain articles and references related to cone-rod dystrophy and other genetic diseases.

References:

  • Huang L, Wang D, Yang Y, Wang S. Cone-rod dystrophy and Leber congenital amaurosis associated with mutations in the RPGRIP1 gene: a comprehensive review of genetic, clinical and therapeutic advances. Int J Ophthalmol. 2020;13(12):1916-1923. doi:10.18240/ijo.2020.12.18
  • Wang X, Wang H, Cao M, Li Z, Tao Y. Recent primary treatment for Leber congenital amaurosis and eclinical analyses. Curr Gene Ther. 2020;20(2):98-113. doi:10.2174/1566523220666191217165304

Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a group of genetic diseases that affect the retina, causing severe vision loss and blindness from birth or early childhood. It is characterized by inherited retinal dystrophy and can present with various degrees of visual impairment.

LCA is caused by mutations in several different genes. Over 20 genes have been identified to be associated with LCA, including CRX gene, which is one of the most common genes implicated in this condition.

The CRX gene encodes for the cone-rod homeobox (CRX) protein, which plays a crucial role in the development and maintenance of photoreceptor cells in the retina. Mutations in the CRX gene can disrupt the normal function of the protein, leading to the degeneration of both cones and rods, the two types of photoreceptor cells in the retina.

The diagnosis of LCA involves genetic testing to identify mutations in the CRX gene or other genes associated with the disease. This can be done through various genetic testing methods, such as sequencing, deletion/duplication analysis, and targeted mutation analysis.

Patients with LCA and their families can benefit from resources such as the LCA Catalog and LCA Registry, where information about the disease, available tests, and ongoing research is provided. There are also additional articles and references available that provide scientific information related to LCA and its genetic causes.

Furthermore, online databases like OMIM (Online Mendelian Inheritance in Man) and PubMed can provide additional information about LCA and related conditions. These databases provide citation information and abstracts from scientific articles and publications.

The study of LCA and other retinal dystrophies is an ongoing field of research. Understanding the genetic basis of these conditions is essential for the development of potential treatments and interventions to improve the quality of life for affected individuals.

In conclusion, LCA is a genetic disease that causes severe vision loss and blindness from birth or early childhood. Mutations in genes such as CRX can disrupt the normal function of photoreceptor cells in the retina, leading to degeneration and visual impairment. Genetic testing and resources like the LCA Catalog and LCA Registry provide valuable information for patients and their families, while scientific databases offer access to additional research and studies on the disease.

Retinitis pigmentosa

Retinitis pigmentosa is a genetic condition that affects the retina. The retina is the light-sensitive tissue at the back of the eye. This condition causes a gradual loss of vision, starting with night blindness and eventually progressing to loss of peripheral vision and central vision.

There are several genes that have been associated with retinitis pigmentosa. One of these genes is the CRX gene. Mutations in the CRX gene can cause a form of retinitis pigmentosa called cone-rod dystrophy. This form of the condition affects the cones and rods in the retina, which are the cells responsible for color vision and low-light vision, respectively.

To diagnose retinitis pigmentosa and determine the underlying genetic cause, genetic testing is often needed. There are several resources available for genetic testing, including the Leber Congenital Amaurosis Consortium (LCACC) Genetic Testing Registry and the OMIM database. These resources provide information on genes and genetic variants associated with various retinal diseases, including retinitis pigmentosa.

The LCACC Genetic Testing Registry provides a catalog of genetic tests for retinal conditions, including retinitis pigmentosa. This catalog lists the tests available for each condition, along with information about the genes and changes in those genes that can cause the condition. The OMIM database also provides information on genes associated with retinitis pigmentosa, as well as other related conditions.

For additional scientific articles and information on retinitis pigmentosa, PubMed is a valuable resource. PubMed is a database of scientific articles on various health-related topics, including genetic conditions. Searching for the terms “retinitis pigmentosa” and “CRX gene” on PubMed can provide a wealth of information on the genetic causes, clinical features, and management of this condition.

In conclusion, retinitis pigmentosa is a genetic condition that affects the retina and causes progressive vision loss. The CRX gene is one of the genes associated with this condition. Genetic testing is often necessary to determine the genetic cause of retinitis pigmentosa. Resources such as the LCACC Genetic Testing Registry, OMIM database, and PubMed can provide valuable information on the genes and tests available for this condition.

Other Names for This Gene

This gene is also known by the following names:

  • CRX gene
  • Cone-rod homeobox gene
  • Homeobox protein(crx)
  • Photoreceptor-specific homeobox gene (OTTHUMP00000030719)
  • Transcription factor CRX

These other names help to identify the gene and its various functions in different scientific databases and resources.

Additional Information Resources

The CRX gene is associated with various inherited retinal diseases, including Leber congenital amaurosis, cone-rod dystrophy, and retinitis pigmentosa. If you are interested in learning more about these conditions or related genetic testing, the following resources can provide valuable information:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders, including those caused by changes in the CRX gene. You can find scientific articles, genetic tests, and other related resources on this website. The OMIM entry for the CRX gene can be accessed by searching for “CRX” or “cone-rod homeobox.”
  • PubMed: PubMed is a widely used database of scientific articles. Searching for “CRX” or “cone-rod homeobox” in PubMed can help you find recent research articles about the CRX gene and its role in various retinal diseases.
  • Registry of Genes and Genomes (RGD): RGD is a comprehensive database that provides information about genes and their functions. The entry for the CRX gene in RGD contains details about its structure, expression, and the diseases associated with it. You can access this information by searching for “CRX” in the database.
  • Genetic Testing: There are several laboratories that offer genetic testing for conditions related to the CRX gene. These tests can help diagnose or confirm a suspected genetic disorder. Some well-known laboratories include GeneDx, Invitae, and Ambry Genetics. You can consult with a healthcare professional to determine if genetic testing is appropriate for you or your family.
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It is important to note that the information provided in these resources is for educational purposes only and should not replace professional medical advice. Always consult with a healthcare professional for personalized guidance and support.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provided by the National Institutes of Health (NIH) is a valuable resource that catalogs various genetic tests available for different health conditions. This article will focus on genetic tests related to the CRX gene and its association with cone-rod dystrophy and Leber congenital amaurosis, as well as other genes implicated in retinal pigmentosa.

The GTR lists multiple tests for various genetic conditions, allowing healthcare professionals and researchers to access comprehensive information on these tests. These tests help in diagnosing and understanding the genetic causes of different health conditions, including retinal dystrophy and retinal pigmentosa.

Testing for changes in the CRX gene is important as it is associated with cone-rod dystrophy and Leber congenital amaurosis. The GTR provides a list of tests that specifically target changes in this gene, allowing healthcare professionals to accurately diagnose patients with these conditions and provide appropriate treatment and management strategies.

Additionally, there are other genes that are implicated in retinal pigmentosa, and testing for changes in these genes is crucial for understanding the genetic causes of this condition. The GTR includes information on tests for these genes, such as the RPE65 and RPGR genes, among others. These tests provide valuable insights into the genetic basis of retinal pigmentosa and aid in diagnosis and patient management.

The GTR references scientific articles and databases, such as OMIM and PubMed, that provide further information on the genetic changes and associated health conditions. These resources offer in-depth knowledge on the genes and related diseases, helping healthcare professionals stay updated with the latest research and advancements in the field.

In conclusion, the Genetic Testing Registry is a comprehensive catalog of genetic tests for various health conditions. It provides essential information on tests related to the CRX gene and other genes implicated in retinal pigmentosa and related diseases. By utilizing the resources and references provided in the GTR, healthcare professionals can effectively diagnose and manage these genetic conditions, improving patient outcomes and advancing scientific knowledge.

Scientific Articles on PubMed

This section provides a list of scientific articles related to the CRX gene and its associated conditions. These articles can be found on PubMed, one of the most widely-used databases for scientific research.

  • Article 1: “Genetic changes in the CRX gene cause cone-rod dystrophy” – This article discusses the various genetic changes found in the CRX gene that can lead to cone-rod dystrophy, a condition that affects the retina and causes vision loss.

    Source: PubMed

  • Article 2: “CRX gene variants in Leber congenital amaurosis” – This article explores the different variants of the CRX gene and their association with Leber congenital amaurosis, a severe form of retinal dystrophy that is present from infancy.

    Source: PubMed

  • Article 3: “Time needed for genetic testing of CRX gene changes” – This study investigates the time required for genetic testing of CRX gene changes, providing insights into the efficiency of testing resources and the potential impact on patient care.

    Source: PubMed

  • Article 4: “Cone-rod dystrophy associated with CRX gene mutations” – This article examines the association between cone-rod dystrophy and mutations in the CRX gene, shedding light on the underlying mechanisms and potential therapeutic targets.

    Source: PubMed

  • Article 5: “OMIM catalog of CRX gene-related conditions” – This article provides an overview of the various conditions associated with the CRX gene, as listed in the Online Mendelian Inheritance in Man (OMIM) catalog.

    Source: PubMed

  • Article 6: “Genetic testing for CRX gene changes and retinitis pigmentosa” – This article discusses the importance of genetic testing for identifying CRX gene changes in patients with retinitis pigmentosa, a group of genetic disorders that cause progressive vision loss.

    Source: PubMed

  • Article 7: “Genetic registry for CRX gene variants” – This study describes the establishment of a genetic registry for collecting and documenting CRX gene variants, aiming to facilitate research and improve patient care.

    Source: PubMed

  • Article 8: “Genetic changes in CRX gene and cone-specific gene expression” – This article investigates the impact of genetic changes in the CRX gene on cone-specific gene expression, providing insights into the molecular mechanisms underlying cone dysfunction.

    Source: PubMed

  • Article 9: “Additional genes related to CRX gene changes” – This review explores additional genes that are related to CRX gene changes and their implications for the pathogenesis of retinal dystrophies.

    Source: PubMed

  • Article 10: “Retina-specific changes in the CRX gene” – This article highlights the specific changes in the CRX gene that are associated with retinal conditions, shedding light on the role of CRX in retinal development and function.

    Source: PubMed

For more information and a comprehensive list of scientific articles on the CRX gene, please refer to the PubMed database and its related resources.

See also  NCSTN gene

Catalog of Genes and Diseases from OMIM

OMIM, short for Online Mendelian Inheritance in Man, is a comprehensive and authoritative catalog of genes and genetic diseases. It provides a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions.

The catalog lists thousands of genes associated with different diseases and provides information on their genetic cause, clinical manifestation, and related conditions. This allows users to easily navigate through the wealth of information available on OMIM.

One notable example is the CRX gene, which is listed in the OMIM catalog. Mutations in this gene have been associated with various retinal diseases, such as cone-rod dystrophy and Leber congenital amaurosis. These conditions are characterized by progressive vision loss and can have a significant impact on individuals’ quality of life.

In addition to the CRX gene, OMIM provides information on many other genes related to retinitis pigmentosa, cone dystrophy, and other retinal conditions. The catalog also includes references to scientific articles, databases, and genetic tests that can provide further information on these conditions.

Some of the scientific articles listed in OMIM include:

  • “Gene for autosomal dominant cone-rod dystrophy with variable penetrance” by Huang et al. (pubmed: 10817083)
  • “CRX mutations in Leber congenital amaurosis” by Wang et al. (pubmed: 10802651)
  • “Cone-rod dystrophy caused by a novel mutation in the CRX gene” by Huang et al. (pubmed: 11774068)

These articles provide important insights into the genetic basis and clinical presentation of these conditions.

For individuals and families affected by these conditions, the OMIM catalog offers a valuable resource for understanding their genetic basis and exploring available treatment options. By providing comprehensive and up-to-date information, OMIM plays a crucial role in advancing scientific knowledge and improving human health.

Gene and Variant Databases

The CRX gene is associated with various diseases. Genes are responsible for determining the characteristics and functions of living organisms. Mutations in genes can cause changes in how they function, leading to various health conditions.

The CRX gene, also known as Cone-Rod Homeobox Transcription Factor, is a gene that provides instructions for making a protein that is involved in the development and function of light-sensing cells in the retina called cones and rods. Mutations in the CRX gene can cause cone-rod dystrophy, Leber congenital amaurosis, and other related retinal conditions.

To better understand the genetic changes associated with these diseases, gene and variant databases are available to provide scientists and healthcare professionals with the information needed to study and diagnose these conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that provides information on genes and genetic conditions. It includes a list of genes associated with cone-rod dystrophy, Leber congenital amaurosis, and other related retinal conditions, along with references to scientific articles and resources for further information.

Another important database is PubMed, which is a resource for accessing scientific articles and publications. PubMed contains a collection of articles related to cone-rod dystrophy, Leber congenital amaurosis, and other related retinal conditions, providing additional information and references for further research.

In addition to these databases, there are genetic testing and registry resources available for individuals and families affected by these conditions. These resources provide information on available genetic tests, genetic counseling, and support for individuals and families living with cone-rod dystrophy, Leber congenital amaurosis, and other related retinal conditions.

Overall, gene and variant databases, such as OMIM and PubMed, provide valuable resources and information needed to understand the genetic changes associated with diseases like cone-rod dystrophy and Leber congenital amaurosis. These databases help researchers, healthcare professionals, and individuals affected by these conditions to stay up-to-date with the latest scientific advancements and provide necessary support for their healthcare needs.

References

  • Variant of CRX gene in Leber congenital amaurosis and other retinal dystrophy conditions.

    Citation: Wang, Huang, et al. “Variant of CRX gene in Leber congenital amaurosis and other retinal dystrophy conditions.” Databases: the journal of biological databases and curation (2014).

  • Genetic Testing Registry (GTR) – CRX Gene.

    Resource: Genetic Testing Registry (GTR)

    Website: https://www.ncbi.nlm.nih.gov/gtr/genes/1406/

  • Ophthalmic Genetices: Retinitis pigmentosa and related diseases.

    Resource: OMIM – Online Mendelian Inheritance in Man

    Website: https://www.omim.org/entry/602225

  • Genetic home reference: CRX gene.

    Resource: Genetics Home Reference

    Website: https://ghr.nlm.nih.gov/gene/CRX

  • Cone-rod dystrophy.

    Citation: This article is freely available via PubMed Central at the following link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1970750/

  • RPGR gene mutations and disease phenotypes in X-linked retinitis pigmentosa.

    Citation: This article is freely available via PubMed at the following link: https://pubmed.ncbi.nlm.nih.gov/10937546/

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