Results 101 to 110 of about 1,986 (221)
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Rare Virulences and Great Pathotype Diversity of a Central European Blumeria hordei Population. [PDF]
J Fungi (Basel), 2023 Dreiseitl A.
europepmc +1 more source
IDENTIFICATION OF PHYSIOLOGIC RACES OF Puccinia triticina AND POSTULATED GENES OF RESISTANCE IN CERTAIN EGYPTIAN COMMERCIAL WHEAT CULTIVARS [PDF]
Journal of Plant Protection and Pathology, 2010 I. Youssef +3 more
openaire +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin +14 more
wiley +1 more source
Advanced Engineering Materials, EarlyView.This study applies machine learning regression to predict chromium layer thickness in decorative trivalent chromium electroplating, using 441 experiments from laboratory‐scale (1L) and pilot‐scale (14L) setups. Tree‐based models, particularly CatBoost, outperformed linear regression by capturing nonlinear parameter interactions (R2$R^2$ up to 0.77 ...
Christoph Baumer +4 more
wiley +1 more source
Reaction of Wheat to European Virulence Races of Common Bunt (<i>Tilletia</i> spp.) and Mapping Race-Specific Resistance Genes Using SNP Markers. [PDF]
Plants (Basel)Borgen A, Christensen DK.
europepmc +1 more source
Advanced Functional Materials, EarlyView.Lipidic nanoparticles (LNPs) were incubated with 21 gut bacteria frequently associated with the human microbiome. SAXS revealed that ∼75% of tested species induced structural transformations in monoolein LNPs, whereas phytantriol and phospholipid formulations remained unaffected.
Jonathan Caukwell +7 more
wiley +1 more source