Results 191 to 200 of about 2,225,423 (269)
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
The operculate micro land snails from the Alycaeinae (Caenogastropoda, Cyclophoridae) in Laos, with description of new species. [PDF]
Jirapatrasilp P +8 more
europepmc +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
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
<i>Elsholtzia yajiangensis</i> (Lamiaceae), a New Species From Sichuan, China. [PDF]
Liu LJ +5 more
europepmc +1 more source
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 Stenobothrus From Connecticut, With Remarks on Other New England Species
A. P. Morse
doaj +1 more source
A New Species of Eucnemidae (Coleoptera: Elateroidea) with Its Complete Mitogenome and Mitogenome-Based Phylogenetic Analysis. [PDF]
Meng Z +5 more
europepmc +1 more source
A New Species of Criorhina From New England
Charles W. Johnson
doaj +1 more source
Morphology and multigene phylogeny reveal a new species of Kuehneromyces from Xizang, China. [PDF]
Zhang AQ +5 more
europepmc +1 more source

