FIGURE

Figure 4

ID

ZDB-FIG-201026-17

Publication

Theis et al., 2020 - Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

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Figure 4

Potential role for SHH, WNT and LRP2 in HLHS.

(A) A gene network integrating family-centric HLHS candidate genes with heart development. ORANGE – genes with cardiac phenotypes in iPSC/Drosophila assays. YELLOW – other candidate genes with Drosophila phenotypes. RED – Genes up-regulated in proband iPSC-CMs vs. parents. BLUE – Genes downregulated downregulated in proband iPSCs vs. parents. (B,C) qPCR for FZD10, a WNT-pathway-associated gene, (B) and for PTCH1, a SHH pathway-associated gene (C) upon LRP2 KD in hiPSC-CM. **p<0.01, *p<0.05 Student’s t-test. (D) Quantification of EdU- incorporation assay in hiPSC-CM upon LRP2 KD in combination with BIO, a WNT inhibitor. ***or ^###p<0.001, ****p<0.0001, one-way ANOVA. (E) Representative images of hiPSC-CM stained for EdU and ACTN1. Scale bars: 50 µm. (F) Quantification of EdU-incorporation assay in hiPSC-CM upon LRP2 KD in combination with PTCH1 KD, a SHH-associated gene. ***p<0.001, ****p<0.0001, one-way ANOVA. (G) Representative images of hiPSC-CM stained for EdU and ACTN1. Scale bars: 50 µm.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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