Results 201 to 210 of about 493,696 (293)
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Stabilizing Functional Nucleic Acids for Real‐Sample Diagnostics
Angewandte Chemie, EarlyView.Functional nucleic acids enable programmable real‐sample diagnostics, but often lose function in complex biological matrices. This review highlights four stabilization levers—chemical, topological, architectural, and microenvironment/interface engineering—that preserve aptamer and DNAzyme performance in saliva, serum, urine, and stool, reframing ...
Soyeon Lee +4 more
wiley +2 more sources
A highly sensitive Au@Pd NRs SERS microarray chip based on electrophoretic deposition for detection of GSH in the serum of colorectal cancer patients. [PDF]
RSC AdvXie C +5 more
europepmc +1 more source
Animal stroke models and outcome evaluation: A review
Animal 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
Angewandte Chemie, EarlyView.A chemoenzymatic methodology is described that provided a panel of 6‐sulfo sialyl Lewisx‐containing glycans that were probed for receptor specificity of MERS‐CoV. Although the fucoside of 6‐sulfo‐SLex does not directly interact with the spike, it pre‐organizes the molecule into a conformation to allow a salt bridge between the sulfate and the ...
Yunfei Wu +7 more
wiley +2 more sources
Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population. [PDF]
Hum Mol GenetIdris FP +10 more
europepmc +1 more source
Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Circulating Exosomes Drive Persistent Neuronal Dysfunction in Post‐Herpetic Neuralgia Patients
Annals of Neurology, EarlyView.Proposed model of exosome‐mediated neuronal dysfunction in post‐herpetic neuralgia (PHN). (1) Circulating, non‐pathogenic exosomes maintain homeostatic processes in healthy skin, where sensory nerve fibers innervate the epidermis and dermis. (2) During acute zoster, reactivating varicella zoster virus (VZV) travels down neurites to the skin causing ...
Christy S. Niemeyer +14 more
wiley +1 more source