This photo provided by Emilys Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emilys Entourage via AP) ...

The Pig-A gene plays a pivotal role in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which tether a multitude of proteins to the cell surface. Mutations in this X‐linked gene result ...

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

Is Obesity Genetic or Environmental? Get All the Details This article was reviewed by Lynn Marie Morski, MD, JD. Key ...

Human semen not only accumulates genetic mutations with age; as the percentage of sperm carrying potentially serious mutations increases, so does the risk of developing diseases in offspring. This is ...

Immune checkpoint inhibitor (ICI) efficacy in triple-negative breast cancer (TNBC) patients with liver metastases (LM): A meta-analysis. This is an ASCO Meeting Abstract from the 2025 ASCO Annual ...

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, ...

Researchers have found that women who are diagnosed with breast cancer before the age of 55 and carry an inherited mutation in the breast cancer susceptibility genes BRCA1 or BRCA2 ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...