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Fig. 3 | Human Genomics

Fig. 3

From: Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

Fig. 3

In vitro transfection of HEK 293T cells with CMV:MSGN1 (WT)-FLAG-tag and CMV:MSGN1 p.(Arg125Leu)-FLAG-tag plasmids at different concentrations. A Immunofluorescence showing expression of tagged MSGN1 proteins (WT) or p.(Arg125Leu) after 48h of transfection. Corresponding experimental controls are shown in Additional file 4: Fig. S3A. B Quantification of MSGN1 localization in transfected cells. Fluorescence signals in a by single z-plane were visualized by confocal laser-scanning microscopy and subsequently signal intensity was measured in single cells (cyto: cytoplasm; nuc: nucleus) and outside of cells (bg: background). Graphs show signal intensity measurements of the RFP channel (MSGN1 Flag-Tag) of 30 cells per experimental group and 30 background positions. Signal intensity measurements of the corresponding DAPI channel for nucleus identification are given in Additional file 4: Fig S3B. Values are given in Additional file 1: Excel file S1

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Human Genomics

ISSN: 1479-7364