Results 131 to 140 of about 59,267 (253)
Clinical Genetics, EarlyView.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
A GFP-based reporter system to monitor nonsense-mediated mRNA decay [PDF]
, 2017 Aberrant mRNAs whose open reading frame (ORF) is truncated by the presence of a premature translation-termination codon (PTC) are recognized and degraded in eukaryotic cells by a process called nonsense-mediated mRNA decay (NMD).
Azzalin, Claus M. +4 more
core
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
HTLV-1 Tax plugs and freezes UPF1 helicase leading to nonsense-mediated mRNA decay inhibition
Nature Communications, 2018 UPF1 is a central protein in nonsense-mediated mRNA decay (NMD), but contribution of its RNA processivity to NMD is unclear. Here, the authors show how the retroviral Tax protein interacts with and inhibits UPF1, and demonstrate that UPF1’s translocase ...
Francesca Fiorini +7 more
doaj +1 more source
aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants. [PDF]
Bioinformatics, 2023 Klonowski J +4 more
europepmc +1 more source
Before It Was ‘New’: A Neglected History of Lived Experience–Led Criminal Justice
The Howard Journal of Crime and Justice, EarlyView.ABSTRACT A growing range of criminal justice initiatives are being shaped and delivered by people with lived experience, including peer mentoring, prisoner councils and policy advocacy roles. While often seen as recent innovations, we reveal a deeper, largely unacknowledged history dating back to at least the 19th century.
Gillian Buck +2 more
wiley +1 more source
Do plants drive translation reinitiation to dodge nonsense-mediated decay? [PDF]
J Exp Bot, 2023 Dong Y, Ryabova LA.
europepmc +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
SUZ domain-containing proteins have multiple effects on nonsense-mediated decay target transcripts. [PDF]
J Biol Chem, 2023 Halbout M +8 more
europepmc +1 more source