Researchers at Monash University in Melbourne, Australia, have uncovered the hidden code governing how genetic mutations affect RNA splicing and result in disease. The researchers were able to ...

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 ...

For decades, biologists have known that the instructions for life are written in DNA, yet the vast majority of those letters seemed to sit in the dark, doing little that was obvious. Now a new ...

Figure 3. Docking of ADNP_Glu931Glyfs12 to the PTB protein. (A) The results of docking ADNP_Glu931Glyfs12 (light orange) to the PTB protein (PDB code 3DXC, navy blue) in the 934-941 amino acid region ...

Identifying and classifying gene mutations - which are the permanent changes in a person's DNA genetic code - are critical in better understanding, and with research, eventually treating or preventing ...

Researchers develop a single genome-editing strategy to treat multiple disorders caused by nonsense mutations, promising ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that thickens the heart's walls, making it harder for the organ to pump blood - ...

A previously unidentified genetic mutation in a small protein provides significant protection against Parkinson’s disease and offers a new direction for exploring potential treatments, according to a ...