Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome

Yifei Miao, Lei Tian, Marcy Martin, Sharon L. Paige, Francisco X. Galdos, Jibiao Li, Alyssa Klein, Hao Zhang, Ning Ma, Yuning Wei, Maria Stewart, Soah Lee, Jan Renier Moonen, Bing Zhang, Paul Grossfeld, Seema Mital, David Chitayat, Joseph C. Wu, Marlene Rabinovitch, Timothy J. NelsonShuyi Nie, Sean M. Wu, Mingxia Gu

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

Gu and colleagues provide direct evidence that a developmentally impaired endocardium underlies the ventricular and valvular hypoplasia in hypoplastic left heart syndrome (HLHS) and relate recently discovered de novo mutations to the pathogenesis of this condition.

Original languageEnglish (US)
Pages (from-to)574-589.e8
JournalCell Stem Cell
Volume27
Issue number4
DOIs
StatePublished - Oct 1 2020

Keywords

  • ETS1
  • NOTCH
  • de novo mutation
  • endocardium
  • endothelial to mesenchymal transition
  • fibronectin
  • human heart tissue
  • hypoplastic left heart syndrome
  • induced pluripotent stem cells
  • single-cell RNA-seq

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Cell Biology

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