Results 51 to 60 of about 26,103 (240)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

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

Inside the "Black Box" of River Restoration: Using Catchment History to Identify Disturbance and Response Mechanisms to Set Targets for Process-Based Restoration

Ecology and Society, 2010
Many river restoration projects fail. Inadequate project planning underpins many of the reasons given for failure (such as setting overly ambitious goals; selecting inappropriate sites and techniques; losing stakeholder motivation; and neglecting to ...
Sarah Mika, Joanna Hoyle, Garreth Kyle, Timothy Howell, Benjamin Wolfenden, Darren Ryder, Daniel Keating, Andrew Boulton, Gary Brierley, Andrew P. Brooks, Kirstie Fryirs, Michelle Leishman, Mark Sanders, Angela Arthington, Robert Creese, Mark Dahm, Craig Miller, Brad Pusey, Alexandra Spink   +18 more
doaj   +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

UniText: A Unified Framework for Chinese Text Detection, Recognition, and Restoration in Ancient Document and Inscription Images

Applied Sciences
Processing ancient text images presents significant challenges due to severe visual degradation, missing glyph structures, and various types of noise caused by aging.
Lu Shen, Zewei Wu, Xiaoyuan Huang, Boliang Zhang, Su-Kit Tang, Jorge Henriques, Silvia Mirri   +6 more
doaj   +1 more source

An Adaptive Human Pilot Model With Reaction Time Delay for Enhanced Adaptive Control in Piloted Systems

International Journal of Adaptive Control and Signal Processing, EarlyView.
This work introduces an adaptive human pilot model that captures pilot time‐delay effects in adaptive control systems. The model enables the prediction of pilot–controller interactions, facilitating safer integration and improved design of adaptive controllers for piloted applications.
Abdullah Habboush, Yildiray Yildiz
wiley   +1 more source

L. N. Parijskiy about the church situation in America in the 1940th [PDF]

Вестник Православного Свято-Тихоновского гуманитарного университета: Серия ИИ. История, история Русской Православной Церкви, 2012
The published document is the report of L.N. Parijskiy, the employee of the Moscow Patriarchate, about results of his visit to North America. The travel of the commission consisting of metropolitan Gregory (Tchukhov) and L.N. Parijskiy, occurred in 1947.
Kostriukov Andrei
doaj  

Harnessing Fungal Biowelding for Constructing Mycelium‐Engineered Materials

Advanced Engineering Materials, EarlyView.
Mycelium‐bound composites (MBCs) offer low‐carbon alternatives for construction, yet interfacial bonding remains a critical challenge. This review examines fungal biowelding as a biocompatible adhesive, elucidating mycelium‐mediated interfacial mechanisms and their role in material assembly. Strategies to optimize biowelding are discussed, highlighting
Xue Brenda Bai, Xinrui Sarah Niu, Zhao Qin   +2 more
wiley   +1 more source

A documentation study of the restoration process of Al-Haddam heirs’ house in Bab Zir – Tlemcen city in western Algeria

Revista de Expresión Gráfica en la Edificación
The old city of Tlemcen, west of Algeria, has received many restoration projects, including various architectural monuments and archaeological sites dating back to different periods of time, especially those that the city witnessed on its selection as ...
Othman Yebdri, Labtar Qadda
doaj   +1 more source

Duplex Stainless Steel Laser‐Surface Textured: Stability in Brine Solution

Advanced Engineering Materials, EarlyView.
Controlled laser‐surface treatment (LST) of duplex DSS2205 steel is performed to increase its stability in brine solution under cyclic electrochemical assays. The superior protection with respect to flat and smooth panels is attributed to the presence of FeCr2O4 as the main protective oxide layer in the LST surface, after corrosion tests. The stability
Mohammad Rezayat, Hamidreza Enshaei, Elaine Armelin, José I. Iribarren, Antonio Mateo, Miguel Morales   +5 more
wiley   +1 more source