Results 211 to 220 of about 4,448,305 (256)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Infrared spectroscopy with statistical analysis and machine learning for cancer risk assessment in inflammatory bowel disease patients.

Analyst
Kumi-Barimah E, Toman R, Jha A, Ali S, Subramanian V.   +4 more
europepmc   +1 more source

Confined Oxidative Polymerization of Preorganized Aniline Within Cyclodextrin-Based Bimolecular Tube Nanochannels for the Synthesis of Bispolypseudorotaxanes. [PDF]

Molecules
Deng M, Hu X, Liu Y, Cheng Y, Lai D, Huang L, Mou X, Qi J, Zou C.   +8 more
europepmc   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Synthesis, properties, and applications of novel 9,10-diarylanthracene-based D-A type AIEE fluorescent materials. [PDF]

RSC Adv
Tian R, Zhou X, Liu S, Wang R, Pu S.
europepmc   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source

MolDeTr: A Chemistry-Informed Deep Learning Model for Next-Generation Automated Analysis of 1H NMR Spectra. [PDF]

Anal Chem
Schmid N, Wanner M, Fischetti G, Henrici A, Meshkian M, Bruderer S, Füchslin RM, Heitmann B, Wegner JD, Sigel RKO, Wilhelm D.   +10 more
europepmc   +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

Interpreting Mass Spectrometry Data From Computational Chemistry: A Practical Guide to Reactivity and the Dissociation Mechanisms of 1,4-Naphthoquinone Derivatives. [PDF]

J Mass Spectrom
Vessecchi R, Bosco VC, Saraiva GR, Lourenço CD, da Silva Emery F, Lopes NP.   +5 more
europepmc   +1 more source