ABL1 gene
The ABL1 gene, also known as tyrosine-protein kinase ABL1, is a gene that is found in humans and is located on chromosome 9. It belongs to a group of genes that encode the ABL1 protein, which plays a key role…
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Autosomal dominant vitreoretinochoroidopathy
Autosomal Dominant Vitreoretinochoroidopathy (ADVR) is a rare genetic condition that affects the retina, vitreous, and choroid. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to…
Rheumatoid arthritis
Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disease that primarily affects the joints. In this article, we will explore the genetic factors associated with RA, including the genes involved and their inheritance patterns. Recent studies have identified several genes…
Cefditoren
Cefditoren Cefditoren is used to treat certain infections caused by bacteria such as bronchitis (infection of the airway tubes leading to the lungs); pneumonia; and infections of the skin, throat, and tonsils.Cefditoren is in a class of medications called cephalosporin…
FAM126A gene
The FAM126A gene plays a crucial role in the development and maintenance of myelin, the fatty substance that surrounds and protects nerve fibers. Myelin is essential for the proper function of the nervous system. However, mutations in the FAM126A gene…
KIF7 gene
KIF7 gene The KIF7 gene, also known as Kinesin Family Member 7, is an essential gene that plays a crucial role in embryonic development. Mutations in this gene have been associated with a variety of developmental disorders and syndromes. One…
Spastic paraplegia type 15
Spastic paraplegia type 15 (SPG15) is a rare genetic condition that affects the muscles in the legs, leading to a progressive impairment in walking. This scientific term is used to describe a specific type of spastic paraplegia, which is characterized…
Chromosome 4
Chromosome 4 is one of the 23 pairs of chromosomes in humans. It is known as one of the autosomes, or non-sex chromosomes, which means it is present in both males and females. Chromosome 4 is a relatively large chromosome,…
Aarskog-Scott syndrome
Aarskog-Scott syndrome, also known as faciogenital dysplasia, is a rare genetic condition that affects the development of various parts of the body. It is caused by abnormalities in the FGD1 gene, which regulates cell growth and division. This gene is…
Léri-Weill dyschondrosteosis
Léri-Weill dyschondrosteosis is a rare genetic condition associated with skeletal abnormalities, primarily affecting the growth plates in the long bones of the arms. It is also known as dyschondrosteosis and is characterized by short stature, particularly in the arms and…