Results 91 to 100 of about 769,211 (264)

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

Dark Current Analysis on GeSn p-i-n Photodetectors. [PDF]

Sensors (Basel), 2023
Ghosh S, Sun G, Morgan TA, Forcherio GT, Cheng HH, Chang GE.   +5 more
europepmc   +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

Construction of a High-Temperature Sensor for Industry Based on Optical Fibers and Ruby Crystal

Sensors
This paper presents the construction of an innovative high-temperature sensor based on the optical principle. The sensor is designed especially for the measurement of exhaust gases with a temperature range of up to +850 °C.
Radim Hercík, Martin Mikolajek, Radek Byrtus, Stanislav Hejduk, Jan Látal, Aleš Vanderka, Zdeněk Macháček, Jiří Koziorek   +7 more
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Realizing nearly-zero dark current and ultrahigh signal-to-noise ratio perovskite X-ray detector and image array by dark-current-shunting strategy. [PDF]

Nat Commun, 2023
Jin P, Tang Y, Li D, Wang Y, Ran P, Zhou C, Yuan Y, Zhu W, Liu T, Liang K, Kuang C, Liu X, Zhu B, Yang YM.   +13 more
europepmc   +1 more source

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Silicic thermally stabilized p–i–n-photodiode

Технологія та конструювання в електронній апаратурі, 2006
A design of a silicon p–i–n photodiode crystal thermostabilized by a Peltier thermoelectric module is proposed and investigated. It is shown that such a design allows the noise current density to remain practically unchanged within the temperature range ...
Yu. G. Dobrovolsky
doaj  

Impressive Reduction of Dark Current in InSb Infrared Photodetector to achieve High Temperature Performance [PDF]

Journal of Optoelectronical Nanostructures, 2018
Infrared photo detectors have vast and promising applications in military,industrial and other fields. In this paper, we present a method for improving theperformance of an infrared photodetector based on an InSb substance.
Saman Salimpour, Hassan Rasooli Saghai
doaj  

Growth and Dark Current Analysis of GaSb- and InP-Based Metamorphic In_0.8Ga_0.2As Photodetectors. [PDF]

Materials (Basel), 2023
Cao P, Wang T, Peng H, Zhuang Q, Zheng W.   +4 more
europepmc   +1 more source