A new Northwestern University study using patient nervous tissue and lab-grown human neurons has uncovered how a key disease ...
PepGen shifts focus to PGN-EDODM1 for Myotonic Dystrophy Type 1 after discontinuing PGN-EDO51 for Duchenne Muscular Dystrophy ...
A man with neurofibromas who didn't know he's been clinically diagnosed with NF1, learns he harbors a deeply intronic, likely ...
Objectives Patients with primary Sjögren’s disease (SjD) have an increased risk of B cell lymphoma. The aim of this study was ...
An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.
Key pointsMonash researchers have uncovered the hidden 'code' governing how genetic mutations affect RNA splicing and result in diseaseBreakthrough ...
Torino is a computational workflow that uses biobank-scale RNA-seq data to decode transcript structures and expression levels from read coverage alone.
From childhood to late adulthood, protein plays a vital role in keeping you healthy. It builds muscle, repairs tissues, fights infection, transports nutrients throughout the body, aids digestion, and ...
In amyotrophic lateral sclerosis and frontotemporal dementia, loss of nuclear TDP-43 mucks up splicing of many transcripts, squelching expression of the associated proteins. However, this missplicing ...
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