The mouse model closely mimics the specific dysferlin mutation and resulting disease, and enabled the researchers to evaluate how the complete therapy works—taking muscle stem cells, correcting ...

The authors demonstrate that two human preproprotein human mutations in the BMP4 gene cause a defect in proprotein cleavage and BMP4 mature ligand formation, leading to hypomorphic phenotypes in mouse ...

Researchers at Karolinska Institutet have uncovered new insights into the mechanisms underlying autism spectrum disorder (ASD ...

This fundamental work presents two clinically relevant BMP4 mutations that contribute to vertebrate development. The convincing evidence supports that the site-specific cleavage at the BMP4 pro-domain ...

The research presents the establishment of a mouse model carrying a patient-derived Setd2 mutation, providing valuable insights into the enzyme's catalytic activity and its non-catalytic functions ...

Mutations in one of the first human-isolated strains of H5N1 bird flu in the US were identified by the Texas Biomedical ...

A gene-editing therapy may correct a defect in the DYSF gene that drives a form of limb-girdle muscular dystrophy (LGMD), per ...

We recently demonstrated that an RNA-DNA oligonucleotide corrected a point mutation in the mouse tyrosinase gene, resulting in permanent and inheritable restoration of tyrosinase enzymatic ...

Researchers at Texas Biomed have identified nine mutations in a strain of bird flu found in a person in Texas. Bad news: This ...