A recent review provides insight into the clinical progression of treatment-naive patients with spinal muscular atrophy type 3 who have lost ambulation. Patients with spinal muscular atrophy (SMA) ...

Proteins long known to be essential for hearing have been hiding a talent: they also act as gatekeepers that shuffle fatty ...

In a recent Molecular Therapy: Nucleic Acids study, researchers demonstrate enhanced loss-of-function editing of clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated ...

In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across ...

The kidneys play a critical role in filtering toxins, balancing electrolytes, and maintaining overall metabolic homeostasis. When kidney function declines, waste products like urea and creatinine ...

Loss of smell, or anosmia, is one of the earliest and most commonly reported symptoms of COVID-19. A new study identifies the olfactory cell types most vulnerable to infection by the novel coronavirus ...