Results 81 to 90 of about 695,687 (261)

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

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Does Long‐Term Lower Extremity Strength Training in Adults With Knee Osteoarthritis and Varus Alignment Reduce Knee Joint Loading During Gait?

Arthritis Care &Research, EarlyView.
Objective We examined whether 18 months of strength training in individuals with knee varus alignment and medial tibiofemoral osteoarthritis (OA) reduced knee joint loads during walking compared to an attention control group. Methods This study was a secondary analysis of a randomized clinical trial that compared the effects of strength training to a ...
Stephen P. Messier, Matthew N. Vigliotti, Paige E. Rice, Brian Pietrosimone, Shannon L. Mihalko, Edward H. Ip, Richard F. Loeser, David J. Hunter, Ali Guermazi, Ryan Hill, Santiago Saldana, Kim L. Bennell, Paul DeVita   +12 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

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Liquid Crystalline Inverted Lipid Phases and Reverse Micelles in Drug Delivery: From Molecular Design to Therapeutic Potential

Advanced Functional Materials, EarlyView.
Liquid crystalline inverted lipid phases and reverse micelles are self‐assembled lipid nanostructures that enhance the solubility, stability, and delivery of diverse therapeutics. This review integrates their physicochemical principles, formulation strategies, drug loading mechanisms, and biomedical applications, highlighting their growing ...
Numan Eczacioglu, Mulazim Hussain Asim, Soheil Haddadzadegan, Andreas Bernkop‐Schnürch   +3 more
wiley   +1 more source

Dietary fat and body composition [PDF]

The American Journal of Clinical Nutrition, 1998
Martijn B Katan, Mark F McCarty, Walter Willett, Howerde E Sauherli   +3 more
openaire   +1 more source

From Food to Power: Hydrogel Thermoelectrics for Ingestible Electronics

Advanced Functional Materials, EarlyView.
We introduce a fully edible thermoelectric–electrochromic platform that harvests heat from food and converts it into a visible color change. N‐type and p‐type hydrogel thermoelectric generators connected in series power anthocyanin‐based electrochromic displays, demonstrating the feasibility of safe, biodegradable, ingestible systems for on‐food ...
Antonia Georgopoulou, Bokeon Kwak, Dario Floreano, Esther Amstad   +3 more
wiley   +1 more source

Targeting Post‐Irradiation Thyroid Dysfunction: Electrospun Scaffolds As A Dual‐Action Approach for Antioxidant and Immune Modulation

Advanced Healthcare Materials, EarlyView.
Radiation‐induced hypothyroidism follows head and neck radiotherapy due to oxidative stress and inflammation. Electrospun polycaprolactone scaffolds containing adenosine have potential to modulate thyroid repair. Scaffolds enhance thyrocyte proliferation, antioxidant enzymes glutathione peroxidase and catalase, reduce senescence and apoptosis markers ...
Maria Heim, Ella‐Louise Handley, Daniel Grant, Lizi M. Hegarty, Elaine Emmerson, Anthony Callanan   +5 more
wiley   +1 more source

Bioengineered Lymphatic Vessels in Synthetic Matrices to Study Breast Cancer Cell Functions

Advanced Healthcare Materials, EarlyView.
Lymphatic vessels are involved in cancer metastasis. To study the interplay between metastasizing cancer cells and lymphatic vessels under highly reproducible conditions, advanced in vitro models are required. In this work, 3D lymphatic networks are formed in biomimetic hydrogels and their interactions with invasive and non‐invasive cancer cell‐lines ...
Rodi Odabasi, Lisa A. Krattiger, Magdalini Kanari, Mira A. Jacobs, Lukas O. Moser, Mark W. Tibbitt, Cornelia Halin, Martin Ehrbar   +7 more
wiley   +1 more source