Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...
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RNA gene mutations identified as cause of inherited blindness
Researchers from Radboud university medical center and University of Basel have discovered new genetic causes of inherited ...
2don MSN
Scientists report new immune insights and targets into LRRK2 mutations in Parkinson's disease
Parkinson's disease (PD) is a debilitating and progressive neurodegenerative disorder caused by the loss of ...
Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...
5don MSN
New method reveals how mutations drive transthyretin amyloidosis and guides precision drug design
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 ...
OCTOBER 10, 2024, NEW YORK – A Ludwig Cancer Research study has punctured a longstanding assumption about the source of the most common type of DNA mutation seen in the genome—one that contributes to ...
This work not only identified the genetic cause of RP but also further highlights the role that noncoding genes can have in genetic disorders.
Influenza cases are down across the United States, but a new flu strain mutation identified in August is causing a spike in ...
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