Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-genome and iPSC RNA sequencing of a HLHS family-tri...

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Principais autores:	Jeanne L Theis, Georg Vogler, Maria A Missinato, Xing Li, Tanja Nielsen, Xin-Xin I Zeng, Almudena Martinez-Fernandez, Stanley M Walls, Anaïs Kervadec, James N Kezos, Katja Birker, Jared M Evans, Megan M O'Byrne, Zachary C Fogarty, André Terzic, Paul Grossfeld, Karen Ocorr, Timothy J Nelson, Timothy M Olson, Alexandre R Colas, Rolf Bodmer
Format:	Artigo
Jezik:	Inglês
Izdano:	eLife Sciences Publications Ltd 2020-10-01
Serija:	eLife
Teme:	lipoproteins iPSC cardiogenesis congenital heart disease hypoplastic left heart syndrome
Online dostop:	https://elifesciences.org/articles/59554
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