Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...

Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to ...

An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

A novel molecular pathway to explain how a mutation in the gene ACTA2 can cause individuals in their 30s -- with normal cholesterol levels and no other risk factors -- to develop coronary artery ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

In Brazil, the early detection of genetic alterations in lung cancer through liquid biopsies could be a valuable tool for ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...