Comprehensive analysis of mutational patterns has demonstrated that roughly 20 percent of breast tumors showed a mutational signature that was characteristic of BRCA mutations. Even without BRCA mutations, the mutational pattern suggests such tumors might have the same sensitivity to poly ADP-ribose polymerase (PARP) inhibitors as tumors with detectable BRCA mutations.
Loss of the survival of motor neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), which leads to paralysis and ultimately death, and is currently the most frequent monogenic cause of infant mortality.
Engineered blood cells were able to alleviate and prevent symptoms of type I diabetes (T1D) and multiple sclerosis (MS), two of the more common autoimmune diseases, by inducing immune tolerance to antigens.
Pentamidine, an antiparasitic drug that is on the World Health Organization's (WHO) list of essential medicines and is used to treat conditions including leishmaniasis and pneumocystis pneumonia, sensitized gram-negative bacteria to antibiotics that are usually effective only for treating gram-positive bugs, including bacterial strains that were resistant to colistin.
Even in fresh, high-quality DNA samples, the act of sequencing itself induced DNA damage at a frequency comparable to that of rare mutations occurring, potentially confounding the identification of rare variants.
Lipinski's rule of fives is a rule of thumb to predict whether a small-molecule lead is more likely to end up a drug or a dud, based on its pharmacological and biological properties.
Silica-coated iron oxide nanoparticles that can be used for the rapid warming of frozen tissues could pave the way for cryopreservation of organs, if the warming method can be scaled up sufficiently. Researchers from the University of Minnesota, Clemson University and Tissue Testing Technologies LLC, published their findings in the March 1, 2017, issue of Science Translational Medicine.
