Results 211 to 220 of about 3,150,482 (310)

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

Emerging treatments and current strategies for mineral, vascular, and bone disorders in chronic kidney disease. [PDF]

World J Nephrol
Ilkun O, Jazayeri F, Kazory A.
europepmc   +1 more source

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +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

Diffuse and Prolonged Bone Pain Revealing Tumor-Induced Osteomalacia: A Case Report. [PDF]

Clin Case Rep
Amraei R, Karimi A, Nazarpoor S, Choobkar S.   +3 more
europepmc   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Calcium Phosphate Bone Substitutes in the Prevention of Bisphosphonate-Related Osteonecrosis of the Jaw: A Review. [PDF]

J Funct Biomater
Paulo S, Abrantes AM, Laranjo M, Marto CM, Paula A, Trancoso P, Botelho F, Serra A, Ferreira MM.   +8 more
europepmc   +1 more source

Synthesis of a Novel Thermoresponsive S53P4 Bioactive Glass Extract–Poloxamer 407 Injectable Hydrogels: Assessment of Biocompatibility and Antimicrobial Properties

Advanced Engineering Materials, EarlyView.
This study investigates innovative thermoreversible hydrogels derived from S53P4 bioactive glass extracts to aid in the healing of infected diabetic foot wounds. These injectable gels, which gel at body temperature, release beneficial ions and remain stable over time.
Marian G. Vargas Guerrero, Adrian Stiller, Alex Nygård, Matej Krivulka, Lars Galema, Erwin Peters, Jimmy Lucchesi, Peter Uppstu, Leena Hupa, Jacobus J. C. Arts   +9 more
wiley   +1 more source

Acetyl-Phosphate Dependent Protein Acetylation in Neisseria gonorrhoeae. [PDF]

Microbiologyopen
Parga EFD, Wolverson PA, Collins MO, Heaney O, Cole J, Green LR, Shaw JG.   +6 more
europepmc   +1 more source

Tailored Hierarchical Porous Copper Architectures via Three Dimensional Printing and Pressure‐less Sintering for Next‐Generation Lithium‐Metal Batteries

Advanced Engineering Materials, EarlyView.
A hierarchical porous copper current collector is fabricated via three‐dimensional printing combined with pressureless sintering to stabilize lithium metal anodes. The interconnected architecture lowers local current density, guides uniform Li deposition within pores, and suppresses dendrite growth.
Alok Kumar Mishra, Mukul Shukla
wiley   +1 more source