The expression of genes has to be very carefully controlled by cells; serious problems can arise when genes are expressed in the wrong places, at the wrong times, or at the wrong levels, for some ...

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding ...

Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with night blindness in youth and progresses to tunnel vision as ...

Estimating that ReNU2 syndrome could account for around 10 percent of recessive neurodevelopmental disorder cases with a ...

Impact of variant allele frequency (VAF) of TP53 alterations and Signatera circulating tumor DNA (ctDNA) monitoring for patients (pts) with advanced urothelial carcinoma (aUC) treated with enfortumab ...

In RNA molecules, the 5′ untranslated region (UTR) is located directly upstream of the start codon and plays a crucial role in post-transcriptional regulation by controlling RNA stability, cellular ...

Three studies published in Nature Genetics look at the identification of a common recessive neurodevelopmental disorder (NDD).

The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, ...

What keeps our cells the right size? Scientists have long puzzled over this fundamental question, since cells that are too large or too small are linked to many diseases. Until now, the genetic basis ...

Digital spatial profiling of advanced solid tumors and lymphomas from a phase 1 trial of copanlisib and nivolumab. Using single-cell sequencing to identify endothelial expression of immune checkpoint ...