Results 101 to 110 of about 83,780 (258)

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

Morphological Changes Induced by TKS4 Deficiency Can Be Reversed by EZH2 Inhibition in Colorectal Carcinoma Cells

Biomolecules
Background: The scaffold protein tyrosine kinase substrate 4 (TKS4) undergoes tyrosine phosphorylation by the epidermal growth factor receptor (EGFR) pathway via Src kinase.
Mevan Jacksi, Eva Schad, Agnes Tantos
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

The significance of chemical transfection/transduction enhancers in promoting the viral vectors-assisted gene delivery approaches: A focus on potentials for inherited retinal diseases

Electronic Journal of Biotechnology
Viral vectors are among the main approaches currently used in studies for executing gene delivery to target cells. During the past decades of active studies in gene therapy, including viruses, adenoviruses (Ads), lentiviruses (LVs), and adeno-associated ...
Sajad Najafi, Azam Rahimpour, Hamid Ahmadieh, Maryam Maleki Tehrani, Mohammad Amin Khalilzad, Fatemeh Suri, Javad Ranjbari   +6 more
doaj   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

In Situ Micromechanical Study of Bimodal γ′–γ″ Precipitate Assemblies in Ni–Cr–Al–Nb Superalloy

Advanced Engineering Materials, EarlyView.
A Ni–Cr–Al–Nb superalloy with a bimodal γ′–γ″ precipitate distribution is developed. Composite precipitate assemblies form through heterogeneous nucleation, effectively impeding dislocation motion. Micropillar compression reveals high strength at room and elevated temperatures, governed by precipitate shearing, with coupled faulting mechanisms ...
Ujjval Bansal, Tae‐Hyeok Kang, Pyuck‐Pa Choi, Subin Lee, Christoph Kirchlechner   +4 more
wiley   +1 more source

Extrusion‐Based Additive Manufacturing of Advanced Ceramics: Strengthening Mechanisms and Process Optimization Review

Advanced Engineering Materials, EarlyView.
This review comprehensively evaluates extrusion‐based additive manufacturing for advanced ceramics, detailing feedstock options and key process parameters. By critically addressing defect mechanisms like porosity and cracking, the work highlights optimization strategies through machine learning and advanced postprocessing.
Meisam Bakhtiari, Mohammad Hadi Sheikh‐Ansari, Avinash Borgaonkar, Mehran Dadkhah, Abdollah Saboori   +4 more
wiley   +1 more source

Enhanced Ultrasound Transmission Through Aberration Layers Using Space‐Coiling Acoustic Metamaterials

Advanced Engineering Materials, EarlyView.
Enhancing ultrasound transmission through an aberration layer exhibiting mismatched impedance with the surrounding medium possesses great implications in imaging and treatment. In this study, we show that a space‐coiling acoustic metamaterial with judiciously tailored structural profile can help improve impedance matching.
Maral Ghanami, Hengzhe Ren, Erqian Dong, Ashkan Ghanbarzadeh‐Dagheyan, Chen Shen   +4 more
wiley   +1 more source