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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Fig. 5

ERBB3 variants lack the capacity to activate PI3K/AKT and ERK signaling pathways. a Immunoblot analysis was performed using indicated antibodies to determine the effects of WT or mutant ERBB3 on PI3K/AKT and ERK pathway activation. To induce protein phosphorylation, HEK293T cells were treated with 10 ng/ml NRG-1β for 30 min after transfection with empty vector (EV), WT, M1, M2, or M3 (V104 L) plasmids. b–e Quantitative analysis of p-ERK, p-AKT, p-ERBB2, and p–ERBB3 expression. *P < 0.05, **P < 0.01, ***P < 0.001 vs. WT

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