Results 171 to 180 of about 660,490 (319)

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li   +11 more
wiley   +1 more source

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

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

Creep‐Induced Microstructural Evolution in an A2‐B2 Superalloy

open access: yesAdvanced Engineering Materials, EarlyView.
A 27.3Ta‐27.3Mo‐27.3Ti‐8Cr‐10Al (at.%) refractory high‐entropy alloy with precipitation‐strengthened A2‐B2 microstructure was studied by creep tests at 1030°C, which demonstrate a transition in deformation mechanisms in the range of 100–150 MPa applied stress. This is associated with changes in dislocation–precipitate interactions. Relevant deformation
Liu Yang   +10 more
wiley   +1 more source

Chiral Phase Change Nanomaterials

open access: yesAdvanced Functional Materials, EarlyView.
This work demonstrates reversible, non‐volatile phase transitions in chiral Ge2${\rm Ge}_2$Sb2${\rm Sb}_2$Te5${\rm Te}_5$ (GST) nanohelices for high‐speed optical modulation of chirality and dynamic control of the state of polarization (SOP). The chiral nanostructures are fabricated using a highly directional, wafer‐scale physical vapor deposition ...
Joshua A. Burrow   +11 more
wiley   +1 more source

The eukaryotic homology search complex distorts donor DNA structure to probe for homology. [PDF]

open access: yesGenes Dev
Woodhouse MV   +6 more
europepmc   +1 more source

Cosheaves homology

open access: yes, 1987
The discussion below is for suitably small categories and objects. The aim of this paper is to present a homology theory for the category of cosheaves \(Cosh(X)=Sh^{op}(X,(\Pr o-Ab)^{op})=Sh^{op}(X,Ind- Ab^{op}),\) where Ab denotes the category of Abelian groups.
openaire   +2 more sources

Extraordinary n‐type Tellurium‐Free Thermoelectric Performance of Y‐Doped BiSe via Synergistic Effect of Vacancies and Band Engineering

open access: yesAdvanced Functional Materials, EarlyView.
Yttrium doping in Sb‐alloyed BiSe synergistically induces Bi vacancies and flattens conduction bands, simultaneously slashing lattice thermal conductivity by 50% and boosting the power factor. The optimized n‐type Bi0.64Sb0.3Y0.06Se delivers a peak zT of 0.91 at 393 K (average zT 0.76, 300–523 K) and an 8‐pair module with 4.6% conversion efficiency ...
Wenhao Xie   +16 more
wiley   +1 more source

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