Results 61 to 70 of about 28,373 (282)

Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors.

open access: yesPLoS Biology, 2007
Frameshift and nonsense mutations are common in tumors with microsatellite instability, and mRNAs from these mutated genes have premature termination codons (PTCs). Abnormal mRNAs containing PTCs are normally degraded by the nonsense-mediated mRNA decay (
Kwon Tae You   +10 more
doaj   +1 more source

Long Open Reading Frame Transcripts Escape Nonsense-Mediated mRNA Decay in Yeast

open access: yesCell Reports, 2014
Nonsense-mediated mRNA decay (NMD) destabilizes eukaryotic transcripts with long 3′ UTRs. To investigate whether other transcript features affect NMD, we generated yeast strains expressing chromosomal-derived mRNAs with 979 different promoter and open ...
Laurence Decourty   +8 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund   +7 more
wiley   +1 more source

Evolution of the nonsense-mediated decay pathway is associated with decreased cytolytic immune infiltration.

open access: yesPLoS Computational Biology, 2019
The somatic co-evolution of tumors and the cellular immune responses that combat them drives the diversity of immune-tumor interactions. This includes tumor mutations that generate neo-antigenic epitopes that elicit cytotoxic T-cell activity and ...
Boyang Zhao, Justin R Pritchard
doaj   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

open access: yesAnnals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate   +34 more
wiley   +1 more source

NMD alterations co-occur and associated with improved NMD efficiency.

open access: yes, 2019
(A) Amplifications/deletions of genes in the NMD pathway (SMG1,5,6,7 and UPF1,2,3B) across different indications. (B) Co-occurrence of copy number and mutations of NMD genes, using the TCGA pan-cancer atlas datasets on cBioPortal.
Boyang Zhao (2197552)   +1 more
core   +1 more source

MiniSdd7‐Derived Cytosine Base Editor Promotes Efficient Multiplex Gene Knockout in Porcine Primary Fibroblasts

open access: yesAnimal Research and One Health, EarlyView.
The miniSdd7‐BE4max‐SpG system enables highly efficient multiplex C‐to‐T base editing of APN, CD163, and MSTN in porcine fibroblasts, providing a robust platform for future development of multiplex gene‐edited livestock. ABSTRACT Efficient multiplex genome editing is essential for improving complex traits in livestock that are governed by multiple ...
Shaoshuai Wang   +4 more
wiley   +1 more source

Nonsense-Mediated RNA Decay Influences Human Embryonic Stem Cell Fate

open access: yesStem Cell Reports, 2016
Summary: Nonsense-mediated RNA decay (NMD) is a highly conserved pathway that selectively degrades specific subsets of RNA transcripts. Here, we provide evidence that NMD regulates early human developmental cell fate. We found that NMD factors tend to be
Chih-Hong Lou   +10 more
doaj   +1 more source

Nerve Growth Factor is Sufficient to Cause Multiple Osteoarthritis‐Relevant Pathologic Features in Naïve Murine Knee Joints

open access: yesArthritis &Rheumatology, EarlyView.
Objective Nerve growth factor (NGF), a key mediator of pain, is increased in osteoarthritic (OA) joints. Antibodies against NGF show analgesic effects in painful knee OA, but clinical development was stopped because of side effects in the joints. Knowledge about the biologic effects of NGF on joint tissues is limited. Therefore, we explored the effects
Alia M. Obeidat   +14 more
wiley   +1 more source

Species Dynamics and Gene Expression in Algal Polycultures Under Mixotrophic Cultivation in Outdoor Pilot‐Scale Nordic Conditions

open access: yesBiotechnology and Bioengineering, EarlyView.
These results demonstrate that mixotrophic conditions drive both microbial community shifts and metabolic reprogramming, underscoring the importance of cultivation strategy and polyculture selection for targeted applications such as nutrient recovery and bioproduct generation.
Quyen Nham   +3 more
wiley   +1 more source

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