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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

Figure 4

mRNA and protein expression in Subject 1 and control lymphoblast cells. A. Scatter graph of mRNA expression of EXOC6, RPJB and HES1 in lymphoblasts. Values for EXOC6, RPJB and HES1 mRNA expression were normalized to the corresponding ß-actin mRNA levels. The results derived from at least three sets of samples and the mean level of each sample is represented in the graph, horizontal bar is an average value between three controls. The difference between the study sample and the average of the controls has been evaluated by student t-test (*, p < 0.05; **, P < 0.01). B. RBPJ protein expression. C. HES1 protein expression. C1-C5 indicate control samples from the lymphoblasts, S1 indicate study sample from Subject1. Cell lysates were analyzed by SDS-PAGE and immunoblotting with membrane probed for RBPJ, HES1 and ß-actin, Values for RBPJ and HES1 expression were normalized to the corresponding ß-actin levels. The results derived from at least three sets of samples and the mean value of each sample is represented in the bar graph. The difference between Subject1 and the average of three controls has been evaluated by student t-test (*, p < 0.05).

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172