Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 26340523.
- Also identified by DOI 10.1016/j.stem.2015.08.013.
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Abstract
Connecting rare genetic variants to neuropsychiatric disease mechanisms remains a significant challenge. In this issue of Cell Stem Cell, Pak et al. (2015) combine gene targeting and stem cell technologies to identify a significant cellular effect of rare penetrant NRXN1 mutations in human neurons, which was found to cause a defect in neurotransmitter release.
Medical subject headings
- Cell Adhesion Molecules, Neuronal
- Mental Disorders
- Models, Biological
- Mutation
- Nerve Tissue Proteins
- Synaptic Transmission