Estrogen receptor (ER) and progesterone receptor (PR) tests are important diagnostic tools used in the field of health care to determine the presence of these hormone receptors in certain types of cancers. These tests help health care providers develop individualized…
Cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis, also called cholesterinosis, is a rare genetic condition that causes the accumulation of fatty tissue, called xanthomas, in various parts of the body. This condition is caused by mutations in the CYP27A1 gene and is inherited…
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…
Boomerang dysplasia is a rare genetic condition that affects the differentiation and growth of bone cells in the patient. This condition is associated with additional skeletal abnormalities and can be life-threatening for the affected individual. Boomerang dysplasia is caused by…
For many years, the scientific community has been intrigued by the role that genetics plays in determining a person’s height. It is widely understood that height is a complex trait, influenced by both genetic and environmental factors. In this article,…
Psoriatic arthritis is a condition that causes inflammation in the joints. It affects approximately 30% of persons with psoriasis, a chronic skin condition. Psoriasis is a genetic condition that is thought to be caused by a combination of genetic and…
The SDHD gene, also known as succinate dehydrogenase complex subunit D, is a gene that is associated with paraganglioma-pheochromocytoma and other related syndromes. Paragangliomas are rare tumors that can develop in various parts of the body, including the head, neck,…
Multiple Myeloma, also known as myeloma, is a rare disease that affects a specific type of white blood cell called plasma cells. These plasma cells are responsible for producing antibodies that help the body fight off infections. However, in multiple…
The MED12 gene is a variant of the mediator of transcription gene, which is associated with various cancerous and noncancerous conditions. This article discusses the role of the MED12 gene in the development of tumors and its relevance in cancer-related…
CTNS gene The CTNS gene is a crucial gene associated with cystinosis, an inherited metabolic disorder that affects the transport of cystine across the lysosomal membrane. This article provides an overview of the CTNS gene and its role in cystinosis,…