Results 231 to 240 of about 3,679,625 (294)

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

Comparative Evaluation of a New Autonomous AI Agent Versus Frontier LLMs for AI-Generated Patient Information Sheets on Pediatric Pathologies. [PDF]

open access: yesCancers (Basel)
Khoury ZH   +7 more
europepmc   +1 more source

X-Align: annotation-independent cross-platform alignment of untargeted metabolomics features. [PDF]

open access: yesChem Sci
Bao H   +10 more
europepmc   +1 more source

Early considerations for village-in-a-dish platform: a multidisciplinary perspective. [PDF]

open access: yesFront Bioeng Biotechnol
Qureshi T   +7 more
europepmc   +1 more source

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