American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Ocular Symptoms in Long COVID: A Cross-Sectional Study [Response to Letter]. [PDF]
Clin OphthalmolKaleem S, Sawano M, Krumholz HM.
europepmc +1 more source
Housing as Asset‐Based Welfare in Australia: An Investigation Through a Consumption Lens
Australian Journal of Social Issues, EarlyView.ABSTRACT Housing asset‐based welfare has long been a key component of Australia's social policy. This resonates with a parallel literature identifying a trade‐off between homeownership and the size of nations' welfare states, wherein owner‐occupiers in smaller welfare states tend to come to rely on housing wealth to meet many of their welfare needs ...
Gavin A. Wood +3 more
wiley +1 more source
Presumed Postural Tachycardia Syndrome: 12-Lead Electrocardiograms During Tilt Table Testing Unmask an Atrial Tachycardia. [PDF]
JACC Case RepRamonfaur D, El-Assaad I, Mayuga KA.
europepmc +1 more source
Mechanochemistry Meets Catalysis: Metal Complexes for Greener Organic Transformations
Angewandte Chemie, EarlyView.Mechanochemistry is redefining metal catalysis by controlling catalyst formulation, speciation, and deployment. This Review shows how milling, LAG, RAM, and TSE enable rapid metal‐complex assembly, distinctive catalytic manifolds, and scalable synthesis beyond solution chemistry.
Sourav Behera +2 more
wiley +1 more source
Inoculation With Azospirillum brasilense and Bacillus amyloliquefaciens Enhances Tomato Resilience to Severe Water Deficit: A Comprehensive Morpho-Physiological and Biochemical Analysis. [PDF]
Environ Microbiol Repde Freitas CG +8 more
europepmc +1 more source
Promiscuity‐Guided Enzyme Evolution via Substrate Multiplexed Screening
Angewandte Chemie, EarlyView.Through historical context and recent examples, this Minireview summarizes the strengths, limitations, and practical considerations for the implementation of substrate multiplexed screening (SUMS) in enzyme evolution. ABSTRACT An enzyme's ability to react with diverse substrates while maintaining high yield and selectivity, termed “substrate ...
Holly A. Weilbaker +3 more
wiley +1 more source
Hyperadrenergic postural tachycardia syndrome associated with augmented neurovascular transduction. [PDF]
Clin Auton ResKulapatana S +10 more
europepmc +1 more source
Angewandte Chemie, EarlyView.A photocatalytic approach for efficient one‐pot direct lignin depolymerization and subsequent cross‐coupling with alcohols for the production of unsymmetrical aromatic diols has been demonstrated. ABSTRACT Conversion of lignin into chemical products typically involves two separate steps, such as depolymerization and subsequent upgrading of monomers ...
Hongji Li +7 more
wiley +1 more source
Genetic variants in acetylcholine processing and significant improvement with pyridostigmine in a patient with postural orthostatic tachycardia syndrome: a case report. [PDF]
Eur Heart J Case RepStephenson KM, Foster B, Blitshteyn S.
europepmc +1 more source