Theis JL, Vogler G, Missinato MA, Li X, Nielsen T, Zeng XI, Martinez- Fernandez A, Walls SM, Kervadec A, Kezos JN, Birker K, Evans JM, O'Byrne MM, Fogarty ZC, Terzic A, Grossfeld P, Ocorr K, Nelson TJ, Olson TM, Colas AR, Bodmer R. Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome. Elife. 2020 Oct 2;9:e59554.
doi: 10.7554/eLife.59554. Epub ahead of print. PMID: 33006316.
From the abstract:
"Congenital heart diseases (CHDs) ... are genetically complex and poorly understood. Here, a multi-disciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole genome and iPSC RNA sequencing of a HLHS family-trio. ... siRNA/RNAi-mediated knockdown in generic human iPSC-derived cardiomyocytes (hiPSC-CM) and in developing Drosophila and zebrafish hearts revealed that LDL receptor-related protein LRP2 is required for cardiomyocyte proliferation and differentiation. ... Collectively, we have established a multi-species high-throughput platform to rapidly evaluate candidate genes and their interactions during heart development, which are crucial first steps towards deciphering oligogenic underpinnings of CHDs, including maladaptive left hearts."
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