The underlying cause of SMA is deletions or mutations in the SMN gene. It is classified into five variants based on age and clinical manifestations of the patient. In this report, we present the case ...

Aortic pathology is the leading cause of death in patients with Marfan syndrome. The fibrillin-1 gene (FBN1) is a major gene involved in the pathogenesis of MFS. It has been shown that the aortic ...

Each gene tells a cell to make a specific molecule, but this isn't performed by the DNA itself. Instead, the information is relayed to cellular machinery by a molecule called messenger RNA.

Gene regulation refers to the mechanisms that act to induce or repress the expression of a gene. These include structural and chemical changes to the genetic material, binding of proteins to ...

New work by Columbia researchers has turned a textbook principle of genetics on its head and revealed why some people who carry disease-causing genes experience no symptoms. Every biology student ...