Using whole genome sequencing, researchers identified a single variant in a microRNA gene, MIR145-5p, as the source of multisystemic smooth muscle dysfunction syndrome, which had gone undiagnosed in a ...

Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...

A team of investigators from Massachusetts General Hospital (MGH), a founding member of Mass General Brigham (MGB) and Mass General for Children (MGfC) has identified - for the first time - the ...

Various sayings equate going fast with going alone. But none of them apply to the gene expression journey described by a research team from the University of Göttingen. The team, led by Heike Krebber, ...

A new study shows that a non-coding RNA molecule regulates mitochondrial gene expression in human cells. A new study published in the journal Cell shows that a non-coding RNA molecule regulates ...

A new study published in the journal Cell shows that a non-coding RNA molecule regulates mitochondrial gene expression in human cells. The work results from a collaboration between the University of ...

The JAK2 gene is a protein-coding gene of the Janus kinase family. It plays a role in cellular signaling. Evidence notes connections between this gene and some medical conditions. Variations in this ...

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...