Results 51 to 60 of about 25,212 (153)
Animal 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
Functions of the nonsense-mediated mRNA decay pathway in Drosophila development. [PDF]
PLoS Genetics, 2006 Nonsense-mediated mRNA decay (NMD) is a cellular surveillance mechanism that degrades transcripts containing premature translation termination codons, and it also influences expression of certain wild-type transcripts. Although the biochemical mechanisms
Mark M Metzstein, Mark A Krasnow
doaj +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.The Clinical Pharmacogenetics Implementation Consortium (CPIC) TPMT/NUDT15 Pharmacogene Curation Expert Panel (PCEP) conducted a comprehensive review of clinical, laboratory, and computational evidence to determine the clinical function assignments for TPMT and NUDT15 star alleles.
Bailey M. Tibben +10 more
wiley +1 more source
Virus Escape and Manipulation of Cellular Nonsense-Mediated mRNA Decay
Viruses, 2017 Nonsense-mediated mRNA decay (NMD), a cellular RNA turnover pathway targeting RNAs with features resulting in aberrant translation termination, has recently been found to restrict the replication of positive-stranded RNA ((+)RNA) viruses.
Giuseppe Balistreri +2 more
doaj +1 more source
Heritability in the efficiency of nonsense-mediated mRNA decay in humans. [PDF]
PLoS ONE, 2010 BACKGROUND: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD) pathway. There
Cathal Seoighe, Chris Gehring
doaj +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Developmental Dynamics, EarlyView.Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
eLife, 2020 Nonsense-mediated mRNA decay (NMD) is a surveillance pathway that degrades aberrant mRNAs and also regulates the expression of a wide range of physiological transcripts.
Andres López-Perrote +9 more
doaj +1 more source
Zebrafish inversin mutants develop scoliosis in the absence of laterality defects
Developmental Dynamics, EarlyView.Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick +3 more
wiley +1 more source
Haematologica, 2008 We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects,
Barbara Lunghi +4 more
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Movement Disorders, EarlyView.Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade +8 more
wiley +1 more source