Using a polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) assay, which amplifies individually all coding exons of the ATM gene ... of intron 17, leading to exon skipping.

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which ... can be inherited from just one parent -- of many gene mutations. The condition can lead to ...

Gene Demby is a founding member of NPRs Code Switch team, where he serves as a host of the show's podcast. In 2020, Code Switch was named Apple's inaugural Podcast Of The Year. Demby's essays for ...

All samples show highly similar values across biological replicates, as well as across brain region ... exon-intron boundaries (R package ‘AnnotatR) are reported. Moreover, the list of read counts ...

Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...

Ukraine has launched a new offensive in Russia’s Kursk region, according to the Kremlin. The attack looks to be an effort to seize new territory after Ukrainian troops swept across the border in ...

In light of the intricate mechanisms that govern HCC progression and the significant role of RNA-binding proteins in regulating gene expression, this study focuses on hnRNPA1 and its potential impact ...

Interpretation of truncating mutations, gene rearrangements, and obvious splice junction mutations, is generally straightforward. However, classification of missense variants often presents a ...

-message => "$header\nMust specify at least 2 parameters:\nReference data gff3 file (--gff)\nOne UTR option (3, 5 , both, plot)", ...

In this valuable study, Roiuk et al employed a combination of ribosome profiling and reporter assays to provide convincing evidence that eIF2A is not involved in translational regulation in cultured ...