Results 101 to 110 of about 263,107 (285)

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

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

Research on Publicness Evaluation and Behavioral Characteristics in Traditional Villages—A Case Study of Chongqing Hewan Village

Buildings
(1) Background: Public space is an important carrier for maintaining the cultural values of a village and the production and living customs of the villagers, but the use rights and boundaries are in an unstable and ambiguous state, and it is not a ...
Jiang Xiao, Yun Qian, Song Chen, Yuanjing Xu, Baoyong Li   +4 more
doaj   +1 more source

Diffusion‐Weighted Imaging for the Evaluation of the Sacroiliac Joint in Pediatric Patients

Arthritis Care &Research, EarlyView.
Objective Maturational signal in the sacroiliac joint (SIJ) of skeletally immature youth is often misinterpreted as inflammation. Diagnostic tools that improve specificity are greatly needed. Apparent diffusion coefficient (ADC) values from diffusion‐weighted imaging (DWI), when used with standard imaging, may enhance diagnostic accuracy.
Michael L. Francavilla, Timothy G. Brandon, Dmitry Khrichenko, Rui Xiao, Nancy A. Chauvin, Asef Khwaja, Pamela F. Weiss   +6 more
wiley   +1 more source

SPACE, CULTURE AND IDENTITY: SOCIAL MEANING OF SPACE AMONG ISPARTA TAHTACIS

Zeitschrift für die Welt der Türken, 2010
The problems encountered in today's urban spaces by Tahtacis, who are one of the major building blocks of Anatolian culture, constitute a significant field of discussion.
Suat KOLUKIRIK
doaj  

Design e Spazio Urbano. Il potere degli oggetti nella città

Narrare i Gruppi, 2020
Design and Urban Space. The power of the objects in the city ----- Abstract --- The constant increase of the urbanization has led to the existence of new ways of conceiving the city, to improve it and transform it into increasingly livable spaces ...
Lucetta Petrini
doaj  

Enhancing Corrosion Resistance and Mechanical Strength of 3D‐Printed Iron Polylactic Acid for Marine Applications via Laser Surface Texturing

Advanced Engineering Materials, EarlyView.
Laser surface texturing significantly improves the corrosion resistance and mechanical strength of 3D‐printed iron polylactic acid (Ir‐PLA) for marine applications. Optimal laser parameters reduce corrosion by 80% and enhance tensile strength by 25% and ductility by 15%.
Mohammad Rezayat, Mojtaba Karamimoghadam, Mohammadreza Lalegani Dezaki, Ali Zolfagharian, Giuseppe Casalino, Antonio Mateo, Mahdi Bodaghi   +6 more
wiley   +1 more source

Evaluation of the Potential of Laser Shock Peening Compared with Cold Expansion for Improving Fatigue Resistance of Riveted Lap Joints of Aerospace Grade 7175 Al Alloy

Advanced Engineering Materials, EarlyView.
This study investigates laser shock peening for enhancing fatigue performance of riveted aerospace aluminum joints. A comparative approach with cold expansion combines fatigue testing and synchrotron X‐ray methods. Integrating mechanical testing with residual stress and strain characterization provides insights into how different treatments affect the ...
Ogün Baris Tapar, David Osman Busse, Maximilian Sprengel, Domenico Furfari, Marc‐André Nielsen, Guilherme Abreu Faria, Jérémy Epp   +6 more
wiley   +1 more source

Enfouissement du témoignage et archivage oraculaire dans Oracle Night de Paul Auster

Sillages Critiques, 2017
Oracle Night is a labyrinthine collection of scattered narratives. The main character, Sidney Orr, buys a mysterious notebook in order to start writing again after a long hospitalization.
François Hugonnier
doaj   +1 more source

Scattering and momentum space entanglement

Physics Letters B, 2017
We derive a formula for the entanglement entropy of two regions in momentum space that is generated by the scattering of weakly interacting scalar particles. We discuss an example where weak interactions entangle momentum scales above and below an infrared cutoff.
Grignani, Gianluca, Semenoff, Gordon W.
openaire   +4 more sources