Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder that affects the development of the limbs and skull. It is inherited in an autosomal dominant pattern, meaning that a person with a mutated gene has a 50% chance of passing…
Terminal osseous dysplasia (TOD) is a rare genetic condition that affects the development of bones, specifically in the hands, feet, and face. It is primarily diagnosed in females, with males being affected more severely. TOD is caused by changes or…
The TAF1 gene, also known as TAF1Dyt3, is a critical gene involved in transcription. It is located in a region near other genes related to dystonia-parkinsonism and is listed in various genetic databases and resources. This gene has been associated…
The RNASEH2C gene is an important gene associated with a group of genetic disorders known as Aicardi-Goutières Syndrome (AGS). AGS is a rare genetic disorder that affects the brain, immune system, and skin. It is characterized by encephalopathy, brain atrophy,…
Drug abuse is a serious issue that affects individuals of all ages. Many people, alone or with friends, find themselves abusing substances, which can lead to a range of health problems and/or legal trouble. If you are using drugs or…
Paget’s disease of bone (PDB) is a rare genetic disorder that affects the bones in the body. It is also known as Juvenile Paget Disease (JPD). The frequency of this disease is not well known, but it is estimated to…
The HSPB8 gene, also known as HSP22, is a gene that is associated with various neurological conditions, including neuropathy and Charcot-Marie-Tooth disease. It plays a role in the maintenance and stabilization of muscle cells and is involved in the heat-shock…
Genes J is a scientific journal dedicated to the study of genetics. It provides a platform for researchers and scientists to publish their findings and contribute to the advancement of our understanding of genes. The journal covers a wide range…
Epithelial cells are the cells that make up the outer surface of the body, including the skin and the lining of certain organs. These cells can also be found in the urine, although their presence may indicate an underlying issue.…
The FAM83H gene is a genetic gene that has been found to be associated with several conditions. It is listed in various databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Health Genetic Gene Variant Registry. This…