Results 101 to 110 of about 333,521 (317)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Extending the diffusion approximation to the boundary using an integrated diffusion model

AIP Advances, 2015
The widely used diffusion approximation is inaccurate to describe the transport behaviors near surfaces and interfaces. To solve such stochastic processes, an integro-differential equation, such as the Boltzmann transport equation (BTE), is typically ...
Chen Chen, Zhidong Du, Liang Pan
doaj   +1 more source

Gas transport in aluminosilicate nanotubes by diffusion NMR

, 2011
Diffusion of tetrafluoromethane in aluminosilicate nanotubes was studied by means of 13C pulsed field gradient (PFG) NMR at 297 K. The measured data allow the estimation of the diffusivity of tetrafluoromethane inside the nanotubes as well as the ...
Bowers, Clifford R., Nair, Sankar, Wood, Ryan, Vasenkov, Sergey, Dvoyashkin, Muslim, Katihar, Aakanksha, Yucelen, Ipek   +6 more
core  

Plastoquinol diffusion in linear photosynthetic electron transport

, 1990
The diffusion of plastoquinol and its binding to the cytochrome bf complex, which occurs during linear photosynthetic electron transport and is analogous to reaction sequences found in most energy-converting membranes, has been studied in intact ...
Spillmann, Andreas, Mitchell, Rowan, Haehnel, Wolfgang, Haehnel, W., Spillmann, A., Mitchell, R. A. C.   +5 more
core   +1 more source

Diffusion Metamaterials for Plasma Transport

AbstractPlasma technology has found widespread applications in numerous domains, yet the techniques to manipulate plasma transport predominantly rely on magnetic control. In this chapter, we present a streamlined diffusion-migration method to characterize plasma transport.
Yang, Fubao, Zhang, Zeren
openaire   +2 more sources

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

Solid-state diffusion and NMR

, 2005
Diffusion in solids, which requires the presence of crystal defects or disorder, has both microscopic and macroscopic aspects. Nuclear magnetic resonance techniques provide access to microscopic diffusion parameters like atomic jump rates and activation ...
Heitjans, Paul, Indris, Sylvio, Wilkening, Martin   +2 more
core  

Geochemical and microbiological controls on the transport of Uranium through soil [PDF]

, 2009
Widespread use of depleted uranium (DU) in munitions around the world has raised questions about contamination of soils, water and vegetation with uranium (U).
Stone, Dorothy Grace
core  

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

Influence of defect clusters on diffusion processes in UO2+x

, 2009
Thermodynamic and transport properties of hyperstoichiometric uranium dioxide,UO2+x, constitute a key issue in the application of this material for nuclear fuel since they are closely related to many chemical and physical processes, e.g., diffusion or ...
Riahi, Fatma, Mekki, Djamel Eddine
core