Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and developmental delays. Although some symptoms overlap among these rare ...

Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in previous studies have discovered one reason why: cells ...

As language models learn to interpret words in a sentence, protein language models learn how amino acids work together within a protein. Subscribe to our newsletter for the latest sci-tech news ...

A new report found only about 2.8% of people with myelodysplastic syndromes (MDS) have JAK2 mutations. A new report is shining a light on an uncommon—but potentially meaningful—characteristic of some ...

The neurodevelomental disease Rett syndrome is usually caused by mutations in a gene called MECP2, which is located on the X chromosome. Patients lose coordination, mobility, and their ability to ...

Researchers found a way to screen cancer-linked gene mutations much more easily and quickly than existing approaches, using a variant of CRISPR genome-editing known as prime editing. Tumors can carry ...

The androgen receptor is a key transcriptional factor for the proper sex development —specially in males— and the physiological balance of all the tissues that express this receptor. The androgen ...

Spectrum and implications of activating BRAF alterations in advanced prostate cancer (aPC). Association of ARm with relevant baseline characteristics and AR status. Duration of abiraterone, months ...