Results 91 to 100 of about 20,553 (236)

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs. [PDF]

open access: yesMol Ther Nucleic Acids, 2023
Lima Cunha D   +5 more
europepmc   +1 more source

AAV-delivered engineered suppressor tRNA rescues visual function in mice with an inherited retinal disease

open access: yesNature Communications
Nonsense mutations change a sense codon into a premature termination codon (PTC) in mRNA and account for approximately 18.5% of human inherited retinal diseases (IRDs)-related mutation.
Chengda Ren   +20 more
doaj   +1 more source

Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation

open access: yesBMC Cancer, 2019
Background Nonsynonymous mutations change the protein sequences and are frequently subjected to natural selection. The same goes for nonsense mutations that introduce pre-mature stop codons into CDSs (coding sequences). Synonymous mutations, however, are
Duan Chu, Lai Wei
doaj   +1 more source

Hidden Human Capital Risks to Sustainable Logistics Systems: A Moderated Mediation Model of Overqualification, Abusive Supervision, and Workplace Ostracism

open access: yesBusiness Strategy and the Environment, EarlyView.
ABSTRACT This study examines how perceived overqualification (POQ) becomes a source of work alienation by focusing on interpersonal dynamics in the workplace. Drawing on relational and power‐based perspectives, we propose that abusive supervision serves as a key mechanism linking POQ to work alienation, while workplace ostracism conditions the strength
Ahmet Hakan Özkan
wiley   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

open access: yesCytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen   +3 more
wiley   +1 more source

Loss of nonsense mediated decay suppresses mutations in Saccharomyces cerevisiae TRA1

open access: yesBMC Genetics, 2012
Background Tra1 is an essential protein in Saccharomyces cerevisiae. It was first identified in the SAGA and NuA4 complexes, both with functions in multiple aspects of gene regulation and DNA repair, and recently found in the ASTRA complex.
Kvas Stephanie   +2 more
doaj   +1 more source

Morphological signatures of bacteria‐laden drying droplets: A multimodal analysis across host fluids

open access: yesDroplet, EarlyView.
Drying patterns of bacteria‐laden droplets encode concentration‐dependent signatures across three host fluids: serum, urine, and nutrient medium. By integrating time‐evolving texture descriptors, image features, and interpretable multimodal machine learning, this study demonstrates a label‐free approach for extracting information on bacterial ...
Anusuya Pal   +6 more
wiley   +1 more source

Harnessing Diversity: Majority‐Group Acculturation Predicts Creativity and Flourishing Over Time

open access: yesEuropean Journal of Social Psychology, EarlyView.
ABSTRACT Creativity and flourishing are core aims of higher education (HE) institutions and government initiatives globally. Large‐scale projects have linked creativity and flourishing with cultural diversity, yet their associations with majority‐group acculturation (i.e., how members of dominant culture groups adopt minority‐cultural elements and/or ...
David Colledge   +9 more
wiley   +1 more source

Everyone Knows It's a Hoax: The Role of Perceived Descriptive Norms in Conspiracy Beliefs

open access: yesEuropean Journal of Social Psychology, EarlyView.
ABSTRACT People's belief in conspiracy theories is shaped by social influence processes. This contribution investigated these processes in six studies (total N = 2906) by examining the role of descriptive norms, that is, the perception that others endorse conspiracy theories.
Jan‐Willem van Prooijen   +3 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

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