Results 81 to 90 of about 44,110 (224)
Retrovirology, 2010 Background Nonsense-mediated mRNA decay (NMD) is an mRNA quality control mechanism that selectively recognizes and targets for degradation mRNAs containing premature termination codons.
Withers Johanna B, Beemon Karen L
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Clinical impact of splicing in neurodevelopmental disorders. [PDF]
, 2020 Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How +2 more
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A new mutation of LKB1 gene in a Japanese patient with Peutz-Jeghers syndrome. [PDF]
, 2003 Germline mutations of the LKB1 gene are associated with Peutz-Jeghers syndrome (PJS), which is characterized by mucocutaneous pigmentation and gastrointestinal hamartoma with an increased risk of cancer development.
Mitsuya, Toshiyuki +2 more
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The power of many: when genetics met yeasts and high‐throughput
Biological Reviews, EarlyView.ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
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Frontiers in GeneticsReadthrough of a translation termination codon is regulated by ribosomal A site recognition and insertion of near-cognate tRNAs. Small molecules exist that mediate incorporation of amino acids at the stop codon and production of full-length, often ...
Kamila Pawlicka +12 more
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The contribution of Alu exons to the human proteome. [PDF]
, 2016 BackgroundAlu elements are major contributors to lineage-specific new exons in primate and human genomes. Recent studies indicate that some Alu exons have high transcript inclusion levels or tissue-specific splicing profiles, and may play important ...
Jiang, Peng +7 more
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Synthetic Strategies for Activity‐Based Probes to Decode Ubiquitin‐Like Modifiers
Chemistry – A European Journal, EarlyView.ABSTRACT Ubiquitin‐like proteins (Ubls) such as SUMO, NEDD8, ISG15, URM1, UFM1, FAT10, ATG8/ATG12, and FUBI are essential regulators of cellular homeostasis, controlling processes from protein stability and trafficking to immune signaling and autophagy.
Saibal Chanda +5 more
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Thermodynamic and kinetic insights into stop codon recognition by release factor 1. [PDF]
, 2014 Stop codon recognition is a crucial event during translation termination and is performed by class I release factors (RF1 and RF2 in bacterial cells). Recent crystal structures showed that stop codon recognition is achieved mainly through a network of ...
Joseph, Simpson +2 more
core
Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia [PDF]
, 2012 Hereditary haemorrhagic telangiectasia (HHT) is a disease characterised by abnormal vascular structures, and most commonly caused by mutations in ENG, ACVRL1 or SMAD4 encoding endothelial cell-expressed proteins involved in TGF-β superfamily signalling ...
Begbie, ME +6 more
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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
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