Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth ...
A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s disease offers protection against another fatal neurodegenerative ...
2don MSN
This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief
Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...
In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...
The SCN2A Foundation today announced a research collaboration with Unravel Biosciences, Inc., an AI-enabled therapeutics company established to advance drugs for complex diseases. The collaboration ...
Despite the end of the pandemic, COVID-19 continues to pose a serious health threat. Most individuals have established robust immune protection and do not develop severe disease but the infection can ...
Mutations in genes that form the desmosome are the most common cause of the cardiac disease arrhythmogenic cardiomyopathy (ACM), which affects one in 2000 to 5000 people worldwide. Researchers have ...
In a recent study posted to the bioRxiv* preprint server, researchers assessed the effects of N501Y mutation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike (S) protein on ...
GRB2-SH3 is a protein with 34 amino acids, each which can be mutated into 19 different amino acids. This can result in 17 billion different combinations of the protein if only a single change allowed ...
The functioning of neurons, cells that transmit information in the nervous system, heavily relies on the production of ...
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