Results 201 to 210 of about 25,724 (259)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Flame‐Retardant Quasi‐Solid‐State Electrolytes From Self‐Assembled Azolate Hybrid Frameworks for Highly Safe Lithium Batteries

open access: yesAngewandte Chemie, EarlyView.
This work develops a spray‐assisted in situ assembly technique to construct AHF materials with nitrogen/oxygen‐regulated one‐dimensional channels on glass fiber, providing abundant active sites and enabling rapid transport for lithium ions. Subsequently, phosphate flame retardants are encapsulated via in situ polymerization, resulting in a thermally ...
Shun Wang   +9 more
wiley   +2 more sources

Detection of axonal degeneration in a mouse model of Huntington's disease: comparison between diffusion tensor imaging and anomalous diffusion metrics. [PDF]

open access: yesMAGMA, 2019
Gatto RG   +10 more
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Nanostructured Deep Eutectic Systems in Healthcare: From Bioactive Solvents to Intelligent Biointerfaces, Wearables, and AI‐Driven Design

open access: yesAdvanced NanoBiomed Research, EarlyView.
Beyond the green solvent paradigm, this review redefines Deep Eutectic Systems (DES) as programmable supramolecular nanoassemblies. We survey their biomedical convergence: stabilizing thermolabile mRNA to enable cold chain‐free logistics, reshaping transdermal microneedle delivery, enabling long‐term wearables via eutectogels, and utilizing Generative ...
Jeesu Moon, Min Seo Kim, Jae‐Seung Lee
wiley   +1 more source

Machine Learning‐Enabled Prediction of pH‐Responsive Curcumin Release From Self‐Assembled Nanomicelles

open access: yesJournal of Applied Polymer Science, EarlyView.
Curcumin encapsulation in nanomicelles coupled with a machine learning–guided model for predicting its release profile. ABSTRACT This work, leveraging machine‐learning algorithms, focuses on the design and in vitro evaluation of oil‐in‐water surfactant‐based nanomicelles as a novel curcumin formulation with comparable cytotoxic effects against MCF‐7 ...
Abbas Rahdar   +3 more
wiley   +1 more source

Linear Viscoelastic Behavior of n‐Alkane Diluted Polyethylene Melts: Sorption, Desorption, and Oscillatory Rheometry

open access: yesJournal of Applied Polymer Science, EarlyView.
This study systematically maps polyolefin dilution dynamics using a homologous series of n‐alkanes. Integrating gravimetric sorption, subsequent controlled desorption, and oscillatory rheometry establishes a precise framework to analyze reduction in viscosity at least for polymer diluent mixtures with polymer concentration > 35% and diluent ...
Ernst Georg Viehböck   +6 more
wiley   +1 more source

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