A5101462286- RNA Research and Splicing
- Cancer-related molecular mechanisms research
- RNA and protein synthesis mechanisms
- Connective tissue disorders research
- Cerebrovascular and genetic disorders
- Moyamoya disease diagnosis and treatment
Children's Hospital of Los Angeles
2025
University of Southern California
2021-2025
California Institute of Technology
2021-2022
ABSTRACT The authors present the first documented case of concomitant Nagashima‐type palmoplantar keratoderma and moyamoya angiopathy, identifying a novel gene as potential link between rare dermatologic cerebrovascular diseases. subject this report was identified clinically evaluated at Neurological Institute Children's Hospital Los Angeles. Written informed consent for clinical care, genetic testing, participation in study obtained. patient initially presented with history several...
Although thousands of lncRNAs are encoded in mammalian genomes, their mechanisms action largely uncharacterized because they often expressed at significantly lower levels than proposed targets. One such lncRNA is Xist, which mediates chromosome-wide gene silencing on one the two X chromosomes to achieve expression balance between males and females. How a limited number Xist molecules can mediate robust larger target genes (∼1 RNA: 10 targets) while maintaining specificity within each cell...