Results 101 to 110 of about 241,459 (222)

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

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar   +7 more
wiley   +1 more source

DNA‐Templated 2D Heterostructures as Phototriggered Dynamic Nanohybrids: From Releasing Molecular Loads to Controlling Enzyme Biocatalytic Function

open access: yesAdvanced Functional Materials, EarlyView.
DNA strands are employed both as dynamic linkers and nanoscale templates for the integration of Ag2S nanoparticles on MoS2, which in turn imparted photothermal responsiveness; this feature permits the selective cargo (fluorophore, quantum dots or an enzyme) release from the MoS2 surface in response to local heat induced by light irradiation.
Kai Chen   +3 more
wiley   +1 more source

From Food to Power: Hydrogel Thermoelectrics for Ingestible Electronics

open access: yesAdvanced Functional Materials, EarlyView.
We introduce a fully edible thermoelectric–electrochromic platform that harvests heat from food and converts it into a visible color change. N‐type and p‐type hydrogel thermoelectric generators connected in series power anthocyanin‐based electrochromic displays, demonstrating the feasibility of safe, biodegradable, ingestible systems for on‐food ...
Antonia Georgopoulou   +3 more
wiley   +1 more source

Bio‐Inspired Synthesis of Macroporous Single Crystal Particles as Scattering Agents

open access: yesAdvanced Functional Materials, EarlyView.
A general strategy is presented that delivers unique, single‐crystal microparticles that combine submicron macroporosity and uniform particle shapes. A bioinspired approach is used to occlude three distinct types of additives – polystyrene microspheres, polymer vesicles and amino acids – within calcite single crystals, and subsequent thermal annealing ...
Stephanie E. Foster   +11 more
wiley   +1 more source

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