In vitro studies in bacterial, yeast and eukaryotic systems have demonstrated the existence of deletion and insertion ‘hotspots’ involving repetitive sequences. Slipped-strand mispairing (SSM) has ...

Purpose: Most cystic fibrosis mutation screening methods do not detect large exon deletions or duplications in the cystic fibrosis transmembrane regulator gene. We looked for such mutations in ...

A phase I open-label study of Ad-RTS-hIL-12, an adenoviral vector engineered to express hIL-12 under the control of an oral activator ligand, in subjects with unresectable stage III/IV melanoma.

One of the key mutations seen in the 'Alpha variant' of SARS-CoV-2 - the deletion of two amino acids, H69/V70 - enables the virus to overcome chinks in its armor as it evolves, say an international ...

In a recent study published in Viruses, researchers used whole genome sequencing to evaluate monkeypox virus samples from Washington and Ohio in the United States and identified 25 samples with open ...

Of the three Bowlin sisters, Margaret, the middle one, was the first to show signs. She began having seizures as a toddler. Then the eldest, Bettina, had a brief and mysterious episode of weakness in ...

Tumor-Infiltrating Lymphocytes, Tumor Mutational Burden, and Genetic Alterations in Microsatellite Unstable, Microsatellite Stable, or Mutant POLE/POLD1 Colon Cancer A retrospective analysis was ...

Patients with myelofibrosis (MF) with single-hit mutations had similar outcomes to patients with wild-type TP53. People with myelofibrosis (MF) who undergo hematopoietic stem cell transplantation ...

A collection of research by Helen Hobbs, MD, highlights how genetic mutations influence cholesterol levels and impact heart disease risk, offering insights into lifelong cardiovascular health ...