Results 191 to 200 of about 2,225,423 (269)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

A New Species of Chrysopa

open access: yesPsyche: A Journal of Entomology, 1931
Nathan Banks
doaj   +1 more source

The operculate micro land snails from the Alycaeinae (Caenogastropoda, Cyclophoridae) in Laos, with description of new species. [PDF]

open access: yesZookeys
Jirapatrasilp P   +8 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

Physician‐Scientist Pipeline for Pediatric Rheumatology: The Current Landscape and Future Perspectives

open access: yesArthritis Care &Research, EarlyView.
Over the past 50 years, the science of pediatric rheumatology has grown exponentially due to an expansion in the understanding of complex rheumatic conditions and a surge in novel targeted therapeutics. Physician‐scientists in the field of pediatric rheumatology have played major roles in these advancements that have improved the care of children ...
Ekemini A. Ogbu   +2 more
wiley   +1 more source

A New Species of Criorhina From New England

open access: yesPsyche: A Journal of Entomology, 1917
Charles W. Johnson
doaj   +1 more source

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