A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Cardiology"
DOI: 10.1007/s00246-019-02099-y
Abstract: Congenital heart defects (CHDs) are the leading cause of death in infants under 1 year of age. Aberrations in the expression and function of cardiac transcription factors (TFs) are a major contributor to CHDs. Despite the… read more here.
Keywords: hey2; novel somatic; ventricular septal; variant hey2 ... See more keywords
Attenuation of PRRX2 and HEY2 enables efficient conversion of adult human skin fibroblasts to neurons.
Sign Up to like & getrecommendations! Published in 2019 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2019.06.089
Abstract: The direct conversion of accessible cells such as human fibroblasts to inaccessible cells, particularly neurons, opens up many opportunities for using the human model system to study diseases and discover therapies. Previous studies have indicated… read more here.
Keywords: hey2; adult human; human skin; conversion ... See more keywords
Pseudogene ACTBP2 increases blood–brain barrier permeability by promoting KHDRBS2 transcription through recruitment of KMT2D/WDR5 in Aβ1–42 microenvironment
Sign Up to like & getrecommendations! Published in 2021 at "Cell Death Discovery"
DOI: 10.1038/s41420-021-00531-y
Abstract: The blood–brain barrier (BBB) has a vital role in maintaining the homeostasis of the central nervous system (CNS). Changes in the structure and function of BBB can accelerate Alzheimer’s disease (AD) development. β-Amyloid (Aβ) deposition… read more here.
Keywords: microenvironment; khdrbs2 transcription; hey2; pseudogene actbp2 ... See more keywords