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. Nelson; Shuyi Nie; Sean M. Wu; Mingxia Gu

doi:10.1016/j.stem.2020.07.015

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

General Internal Medicine

Research output: Contribution to journal › Article › peer-review

8 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 language	English (US)
Pages (from-to)	574-589.e8
Journal	Cell Stem Cell
Volume	27
Issue number	4
DOIs	https://doi.org/10.1016/j.stem.2020.07.015
State	Published - 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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Miao, Y., Tian, L., Martin, M., Paige, S. L., Galdos, F. X., Li, J., Klein, A., Zhang, H., Ma, N., Wei, Y., Stewart, M., Lee, S., Moonen, J. R., Zhang, B., Grossfeld, P., Mital, S., Chitayat, D., Wu, J. C., Rabinovitch, M., ... Gu, M. (2020). Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. Cell Stem Cell, 27(4), 574-589.e8. https://doi.org/10.1016/j.stem.2020.07.015

Miao, Y, Tian, L, Martin, M, Paige, SL, Galdos, FX, Li, J, Klein, A, Zhang, H, Ma, N, Wei, Y, Stewart, M, Lee, S, Moonen, JR, Zhang, B, Grossfeld, P, Mital, S, Chitayat, D, Wu, JC, Rabinovitch, M, Nelson, TJ, Nie, S, Wu, SM & Gu, M 2020, 'Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome', Cell Stem Cell, vol. 27, no. 4, pp. 574-589.e8. https://doi.org/10.1016/j.stem.2020.07.015

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title = "Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome",

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.",

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",

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

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AU - Miao, Yifei

AU - Tian, Lei

AU - Martin, Marcy

AU - Paige, Sharon L.

AU - Galdos, Francisco X.

AU - Li, Jibiao

AU - Klein, Alyssa

AU - Zhang, Hao

AU - Ma, Ning

AU - Wei, Yuning

AU - Stewart, Maria

AU - Lee, Soah

AU - Moonen, Jan Renier

AU - Zhang, Bing

AU - Grossfeld, Paul

AU - Mital, Seema

AU - Chitayat, David

AU - Wu, Joseph C.

AU - Rabinovitch, Marlene

AU - Nelson, Timothy J.

AU - Nie, Shuyi

AU - Wu, Sean M.

AU - Gu, Mingxia

PY - 2020/10/1

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AB - 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.

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KW - NOTCH

KW - de novo mutation

KW - endocardium

KW - endothelial to mesenchymal transition

KW - fibronectin

KW - human heart tissue

KW - hypoplastic left heart syndrome

KW - induced pluripotent stem cells

KW - single-cell RNA-seq

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Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome

Abstract

Keywords

ASJC Scopus subject areas

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