Results 231 to 240 of about 51,351 (304)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh   +1 more
wiley   +1 more source

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub‐Quantal Exocytosis in Living Neurons and Organoids

open access: yesAngewandte Chemie, EarlyView.
Schematic representation of M@E@CF nanosensors for detecting vesicular storage and release in cholinergic neurons and brain organoids. (A) Nano‐tip microelectrodes modification via molds fabricated through 3D printing. (B) the reaction mechanism for acetylcholine detection at the electrode interface.
Wanying Zhu   +11 more
wiley   +2 more sources

Patient-derived organoids inform pharmacogenomic vulnerabilities in liver cancer. [PDF]

open access: yesJHEP Rep
Wong AM   +15 more
europepmc   +1 more source

Sex as a biological variable in nonclinical studies: Bridging scientific rigor, animal welfare, and regulatory expectations

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Sex as a biological variable (SABV) is a critical determinant of pharmacokinetics, pharmacodynamics, and toxicity in nonclinical studies. This review highlights how inappropriate neglect of sex differences compromises animal welfare, scientific reproducibility, and regulatory compliance.
Kenta Onuma   +2 more
wiley   +1 more source

Spatially-restricted inflammation-induced senescent-like glia in multiple sclerosis and patient-derived organoids. [PDF]

open access: yesNat Commun
Fagiani F   +15 more
europepmc   +1 more source

Research progress in animal models of dry eye disease: Types, mechanisms, and application prospects

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Pivotal multifactorial animal models for translational dry eye disease research. Abstract Dry eye disease (DED) is a prevalent and complex multifactorial ocular surface disorder, leading to significant visual discomfort and diminished quality of life.
Jinshen Liu   +12 more
wiley   +1 more source

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