Results 81 to 90 of about 17,359 (221)
, 2012 Mutations in the human ether-a-go-go-related gene (hERG) result in long QT syndrome type 2 (LQT2). The hERG gene encodes a K+ channel that contributes to the repolarization of the cardiac action potential.
Gong, Qiuming +3 more
core +1 more source
Investigating the mechanism behind the feedback regulation of the Exon Junction Complex component MAGOH [PDF]
, 2020 RNA binding proteins are critical for regulation of RNA function, and therefore maintaining appropriate levels of these proteins is important for cellular regulation.
Nega, Abigail
core
Clinical Genetics, EarlyView.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Mutant Wilms’ tumor 1 (WT1) mRNA with premature termination codons in acute myeloid leukemia (AML) is sensitive to nonsense-mediated RNA decay (NMD) [PDF]
Leukemia, 2009 Mutant Wilms’ tumor 1 ( WT1 ) mRNA with premature termination codons in acute myeloid leukemia (AML) is sensitive to nonsense-mediated RNA decay (NMD)
Abbas, Saman +4 more
openaire +2 more sources
Translational repression of NMD targets by GIGYF2 and EIF4E2.
PLoS Genetics, 2021 Translation of messenger RNAs (mRNAs) with premature termination codons produces truncated proteins with potentially deleterious effects. This is prevented by nonsense-mediated mRNA decay (NMD) of these mRNAs.
Boris Zinshteyn +4 more
doaj +1 more source
An allelic variant in the intergenic region between ERAP1 and ERAP2 correlates with an inverse expression of the two genes [PDF]
, 2018 The Endoplasmatic Reticulum Aminopeptidases ERAP1 and ERAP2 are implicated in a variety of immune and non-immune functions. Most studies however have focused on their role in shaping the HLA class I peptidome by trimming peptides to the optimal size ...
Cauli, A +7 more
core +2 more sources
The 5' → 3' exoribonuclease XRN1/Pacman and its functions in cellular processes and development [PDF]
, 2012 XRN1 is a 5' → 3' processive exoribonuclease that degrades mRNAs after they have been decapped. It is highly conserved in all eukaryotes, including homologs in Drosophila melanogaster (Pacman), Caenorhabditis elegans (XRN1), and Saccharomyces cerevisiae (
Jones, Christopher Iain +2 more
core +1 more source
Journal of Integrative Plant Biology, EarlyView.The rice protein OsFKBP20‐1b protects key RNA‐surveillance factors from breakdown, so they can better eliminate defective messages. This RNA quality‐control boost reduces errors and helps plants survive drought, revealing a link between RNA control and drought tolerance.
Haemyeong Jung +5 more
wiley +1 more source
[Nonsense-mediated mRNA decay (NMD)--on guard of mRNA quality].
Postepy biochemii, 2007 Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that protects cells from potentially harmful effects of truncated proteins that would otherwise be translated from mRNAs bearing premature termination codons (PTC). NMD targets not only aberrant mRNAs possessing PTCs resulting from mutations, transcription errors or abnormal splicing but is ...
Agnieszka, Dzikiewicz +1 more
openaire +1 more source
Predicting nonsense-mediated mRNA decay from splicing events in sepsis using RNA-sequencing data
Life Science AllianceA computational analysis of alternative splicing and nonsense-mediated decay using critically ill patients’ RNA-sequencing data can elucidate sepsis transcriptomics and potentially associated protein targets.
Jaewook Shin +10 more
doaj +1 more source