Results 221 to 230 of about 844,508 (249)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

Beyond Nature's Blueprint: Macrocyclic Peptides Containing Unnatural Amino Acids in Therapeutic Development

open access: yesAngewandte Chemie, EarlyView.
Strategic incorporation of unnatural amino acids transforms macrocyclic peptides into drug‐like molecules capable of engaging challenging targets. These building blocks enhance stability, permeability, and bioavailability, accelerating the development of next‐generation peptide therapeutics.
Krishna K. Sharma   +5 more
wiley   +2 more sources

Ac‐SDKP modulates apoptosis via HSP27 and the FAS/FASL and mitochondrial axes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Schematic diagram of Ac‐SDKP regulating the FAS/FASL and mitochondrial apoptosis pathways via HSP27. Ac‐SDKP inhibits HSP27 expression, activates the FAS/FASL pathway and Caspase‐3 signaling, increases Caspase‐8 and Caspase‐3 expression, and induces cell apoptosis.
Wenxin Guo   +13 more
wiley   +1 more source

Sequential Design of Activatable Photosensitizers for Ablation of Glioma Cells in Brain Cancer Tissues

open access: yesAngewandte Chemie, EarlyView.
Gal‐SeNBD‐oleamide is an activatable photosensitizer (PS) with efficient uptake and selective, β‐galactosidase‐triggered activation in cancer cells, enabling efficient photodynamic ablation of glioma cells directly in brain tissue slices from mouse preclinical models and human glioblastoma patients.
Utsa Karmakar   +18 more
wiley   +2 more sources

Animal stroke models and outcome evaluation: A review

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba   +2 more
wiley   +1 more source

Beyond the tangled bank: An evolving meta‐ecosystems framework to integrate ecological and evolutionary perspectives

open access: yes
American Journal of Botany, EarlyView.
Brandon M. Lind   +6 more
wiley   +1 more source

Heat Stress and Gut Microbiome Dynamics in Poultry: Interplay, Consequences, and Mitigation Strategies

open access: yesAnimal Research and One Health, EarlyView.
Heat stress disrupts gut microbial balance in poultry, impairing nutrient absorption and immunity. This review outlines the interplay between thermal stress and microbiome dynamics and discusses integrative mitigation strategies, probiotics, phytogenics, cooling systems, and genetic adaptation to enhance poultry resilience.
O. E. Oke   +9 more
wiley   +1 more source

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