Results 121 to 130 of about 40,456 (274)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Real‐world trends in prenatal antirheumatic drug utilization in Ontario, Canada: A cross‐sectional time‐series analysis

Arthritis Care &Research, Accepted Article.
Objectives This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J.T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source

What Do Large Language Models Know About Materials?

Advanced Engineering Materials, EarlyView.
If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer, Thomas Wallmersperger, Gianaurelio Cuniberti   +2 more
wiley   +1 more source

Packaging of Macroscopic Material Payloads: Needs, Challenges, Concepts, and Future Directions

Advanced Engineering Materials, EarlyView.
This review introduces a unified framework that decomposes any macroscopic packaging system into the payload, packaging material, and packaging strategy and combines them into a conceptual packaging equation: packaging strategy = payload + packaging material.
Venkata S. R. Jampani, Manos Anyfantakis
wiley   +1 more source

Attribute-based fully homomorphic encryption scheme over rings

Tongxin xuebao, 2017
The fully homomorphic encryption has important applications in the area of data security and privacy security of cloud computing,but the size of secret keys and ciphertext in most of current homomorphic encryption schemes were too large,which restricted ...
Yong-hui ZHENG, Yuan-ji KANG, Chun-xiang GU, Hui DONG   +3 more
doaj   +2 more sources

Additive Gaussian Process Regression for Predictive Design of High‐Performance, Printable Silicones

Advanced Engineering Materials, EarlyView.
A chemistry‐aware design framework for tuning printable polydimethylsiloxane (PDMS) for vat photopolymerization (VPP) is developed using additive Gaussian process (GP) modeling. Polymer network mechanics informs variable groupings, feasible formulation constraints, and interaction variables.
Roxana Carbonell, Martha Leach, Hongtao Song, Carolyn Seepersad   +3 more
wiley   +1 more source

On the Influence of Antioxidants and Recycled MgO–C Source Material on the Mechanical Properties of Carbon‐Bonded Magnesia Refractories

Advanced Engineering Materials, EarlyView.
The presented study focuses on the fracture behaviour of carbon‐bonded magnesia MgO–C refractories, where environmentally friendly fructose, collagen and lignin serve as temporary binding agents. The partial substitution of the source material with recycled MgO–C reduces the fracture resistance, which can be counteracted by the additional introduction ...
Marc Neumann, Tom Weber, Jana Hubálková, Florian Kerber, Dinesh Kumar Gunasekar, Hans Jelitto, Christos G. Aneziris   +6 more
wiley   +1 more source

Attribute based encryption made practical

, 2012
Ciphertext-Policy Attribute Based Encryption (CP-ABE) is a promising method for end-to-end, fine grained access control. However, based on our knowledge, there is no massive deployment of CP-ABE based systems. Expensive and insecure key revocation should be one of the major reasons.
openaire   +1 more source