Results 111 to 120 of about 211,616 (238)

Position of Premature Termination Codons Determines Susceptibility of hERG Mutations to Nonsense-Mediated mRNA Decay in Long QT Syndrome

open access: yes, 2014
The degradation of human ether-a-go-go-related gene (hERG, KCNH2) transcripts containing premature termination codon (PTC)mutations by nonsense-mediatedmRNA decay (NMD) is an importantmechanismof long QT syndrome type 2 (LQT2).
Gong, Qiuming   +2 more
core   +1 more source

HP1γ binding pre‐mRNA intronic repeats modulates RNA splicing decisions [PDF]

open access: bronze, 2021
Christophe Rachez   +6 more
openalex   +1 more source

Regulatory Roles of Heterogeneous Nuclear Ribonucleoprotein M and Nova-1 Protein in Alternative Splicing of Dopamine D2 Receptor Pre-mRNA [PDF]

open access: hybrid, 2011
Eonyoung Park   +9 more
openalex   +1 more source

NF-κB mediates lipopolysaccharide-induced alternative pre-mRNA splicing of MyD88 in mouse macrophages [PDF]

open access: hybrid, 2020
Frank Fang-Yao Lee   +5 more
openalex   +1 more source

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. [PDF]

open access: yes, 2019
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with loss of nuclear transactive response DNA-binding protein 43 (TDP-43).
Artates, Jon W   +19 more
core  

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay

open access: yesBMC Medical Genomics
Background The Dent disease 1 is a rarely inherited renal tubular disease caused by variants in the CLCN5 gene. Increasing evidence suggests that many intronic variants can affect the normal splicing of pre-mRNA by altering various splicing regulatory ...
Dan Qiao   +4 more
doaj   +1 more source

Splicing arrays reveal novel RBM10 targets, including SMN2 pre-mRNA [PDF]

open access: hybrid, 2017
Leslie C. Sutherland   +15 more
openalex   +1 more source

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