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,…
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…
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…
The TPP1 gene is responsible for the production of an enzyme known as tripeptidyl-peptidase 1. This gene is located on chromosome 11 and is inherited in a recessive manner. Mutations in the TPP1 gene can lead to a group of…
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine-producing cells in the brain. It affects movement and often presents with tremor, stiffness, and difficulty with balance. PD is a chronic and progressive condition, for which there…
The SMARCA4 gene, also known as BRG1 or SMARCA4, is a gene that plays a crucial role in regulating gene expression and controlling various cellular processes. This gene has been found to be associated with several genetic conditions, including Coffin-Siris…