Results 241 to 250 of about 18,195 (319)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan   +23 more
wiley   +1 more source

Ultra‐refractory epilepsy: The newly described entity

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Drug‐resistant epilepsy (DRE) is defined as the failure of two antiseizure medications (ASMs) to achieve complete seizure control, affecting approximately 30% of epilepsy patients. In some cases, additional ASMs and surgical approaches are also unsuccessful.
Jan Vinklárek   +13 more
wiley   +1 more source

Multi-Objective Machine Learning Optimization of Cylindrical TPMS Lattices for Bone Implants. [PDF]

open access: yesBiomimetics (Basel)
Rezapourian M   +3 more
europepmc   +1 more source

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

open access: yesHead &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue   +12 more
wiley   +1 more source

The role of the gut microbiome in the regulation of high‐altitude adaptation

open access: yesiMeta, EarlyView.
This study is the first to elucidate mechanisms of high‐altitude adaptation from the perspective of the rumen ecosystem by using indigenous yaks and Holstein cows that have lived at high altitude since birth as comparative models. Through a systematic comparison of their rumen ecology using multi‐omics approaches—including rumen metagenomics ...
Xinyu Zhang   +6 more
wiley   +1 more source

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