Results 241 to 250 of about 99,497 (338)
The relevance of the pathogenic (de novo or inherited) mutations found in patients with neurodevelopmental disorders can be investigated using zebrafish as an animal model, by functional screening of the target genes and phenotypic assessments during both early development and adulthood. Abstract Neurodevelopmental disorders (NDDs) are a group of brain
Fatemeh Hassani Nia, Valerie Wittamer
wiley +1 more source
A dyad of human-specific <i>NBPF14</i> and <i>NOTCH2NLB</i> orchestrates cortical progenitor abundance crucial for human neocortex expansion. [PDF]
Eşiyok N+7 more
europepmc +1 more source
Knock‐in mice expressing PrP with a partial deletion of the C‐terminal signal sequence (KIBVPrP248) showed reduced PrPC expression and resistance to prion infection. The underlying mechanism is that the mutant PrP is aberrantly retained in the endoplasmic reticulum and eventually undergoes proteasomal degradation.
Miryeong Yoo+12 more
wiley +1 more source
Cloning-Free Targeting of Endogenous Loci to Generate Fluorescent Reporters in Medaka. [PDF]
Knoblich S, Naruse K, Seleit A, Paix A.
europepmc +1 more source
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu+7 more
wiley +1 more source
Activation of Kir4.1 Channels by 2‐D08 Promotes Myelin Repair in Multiple Sclerosis
Multiple sclerosis causes myelin loss and neurological dysfunction. This study shows that 2‐D08, a small molecule targeting Kir4.1 channels, promotes OPCs differentiation via FYN tyrosine kinase phosphorylation and the FYN/MYRF pathway. It significantly improves myelin repair and motor deficits in EAE mice and marmosets, highlighting its potential as a
Mingdong Liu+17 more
wiley +1 more source
The lateral habenula contributes to regulation of body temperature. [PDF]
Wang X+12 more
europepmc +1 more source