Results 141 to 150 of about 227,102 (266)

A Computational Workflow for Cell Line Profiling by Imaging Mass Cytometry

open access: yesCytometry Part A, EarlyView.
ABSTRACT In single‐cell spatial phenotyping biology, imaging mass cytometry (IMC) stands out as a cutting‐edge, highly multiplexed technology driving discoveries across various disease areas. In vitro profiling relies on tumor‐derived cancer cell lines, known for their diverse morphologies and phenotypes.
Alexandre Bouzekri   +2 more
wiley   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou   +6 more
wiley   +1 more source

Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open‐label prospective study

open access: yesEpilepsia Open, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is an early‐onset developmental and epileptic encephalopathy characterized by frequent drug‐resistant seizures, cerebral visual impairment, motor dysfunction, and sleep and gastrointestinal disturbances.
Marco Perulli   +12 more
wiley   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

open access: yesEpilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad   +10 more
wiley   +1 more source

Loss of cyclin‐dependent kinase‐like 5 results in susceptibility to audiogenic seizures in mice

open access: yesEpilepsia Open, EarlyView.
Abstract CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy characterized by early‐onset, treatment‐resistant epilepsy. Mice lacking CDKL5 display several clinically relevant phenotypes, but spontaneous seizures are not consistently reported, and it is unknown if CDD model mice are susceptible to sensory stimulus‐triggered ...
Jordan Higgins   +4 more
wiley   +1 more source

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