Results 101 to 110 of about 45,424 (315)

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

open access: yesMolecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood   +11 more
doaj   +1 more source

Hessian continuity at degenerate points in nonvariational elliptic problems [PDF]

open access: yesarXiv, 2012
Established in the 30's, Schauder {\it a priori} estimates are among the most classical and powerful tools in the analysis of problems ruled by 2nd order elliptic PDEs. Since then, a central problem in regularity theory has been to understand Schauder type estimates fashioning particular borderline scenarios.
arxiv  

Transcriptomic Profiling Unveils EDN3+ Meningeal Fibroblasts as Key Players in Sturge‐Weber Syndrome Pathogenesis

open access: yesAdvanced Science, EarlyView.
Sturge‐Weber syndrome (SWS) is characterized by leptomeningeal vascular malformations, leading to seizures and stroke. Analysis of 119 446 brain cells from SWS patients uncovered distinct cell heterogeneity and identified an EDN3⁺ meningeal fibroblast cluster, with WNT5A emerging as a potential key driver of SWS progression and a promising therapeutic ...
Daosheng Ai   +14 more
wiley   +1 more source

Treatment of inborn errors of metabolism [PDF]

open access: yesMolecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +3 more sources

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

open access: yesAdvanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng   +11 more
wiley   +1 more source

Silicon Nitride Waveguides for Plasmon Optical Trapping and Sensing Applications [PDF]

open access: yesarXiv, 2015
We demonstrate a silicon nitride trench waveguide deposited with bowtie antennas for plasmonic enhanced optical trapping. The sub-micron silicon nitride trench waveguides were fabricated with conventional optical lithography in a low cost manner. The waveguides embrace not only low propagation loss and high nonlinearity, but also the inborn merits of ...
arxiv  

Artesunate Inhibits Neointimal Hyperplasia by Promoting IRF4 Associated Macrophage Polarization

open access: yesAdvanced Science, EarlyView.
This study shows that macrophage interferon regulatory factor 4 (IRF4) improved arterial injury‐induced neointimal hyperplasia by promoting of M2 polarization via up‐regulating krüppel‐like factor 4 (KLF4) in rodent and nonhuman primate models. Notably, artesunate is identified as a potent inducer of IRF4 in macrophages, and proposed as a promising ...
Jinlin Miao   +15 more
wiley   +1 more source

Truly Visual Polymorphic Algebraic Data Structures through Maramafication [PDF]

open access: yesarXiv, 2018
This paper presents a so-called maramafication of an essential part of functional programming languages such as Haskell or Clean: the construction of fully polymorphic well-typed algebraic data structures based on type definitions with at most one type parameter.
arxiv  

Programmed Fabrication of Vesicle‐Based Prototissue Fibers with Modular Functionalities

open access: yesAdvanced Science, EarlyView.
The fabrication of freestanding vesicle‐based prototissue fibers is reported. The lengths, diameters, and shapes of the fibers can be well‐controlled. Multimodular fibers with different prototissues can be fabricated. Focusing on modularity, manipulation functionalities are obtained when connected with magnetic fibers.
Tomoya Kojima   +3 more
wiley   +1 more source

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