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. 2020 Feb 13;139(4):483–498. doi: 10.1007/s00439-019-02105-6

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© The Author(s) 2020

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 6 — Ectopic expression of wild-type TOR1AIP1 mitigates the observed cellular phenotypes in fibroblasts from Individual 1. Representative western blot images of lamin A and C, p-ERK1/2 and p-S6k, normalized versus β-actin in patient’s dermal fibroblasts untreated or transfected with 4 µg of wild-type Myc-Flag-tagged TOR1AIP1 plasmid (a). Quantification of various nuclear abnormalities in non-transfected (patient NT) and with 4 µg of wild-type Myc-Flag-tagged TOR1AIP1 plasmid (patient + FLAG-TOR1AIP1) patient’s dermal fibroblasts. Bar graphs is representative of 3 independent experiments, around 100 cells were analyzed per experiment. p < 0.0043 (control vs. patient). Data are presented as mean ± SEM. Two-tailed Student’s t test (b). Representative conventional immunofluorescence microscopy image with anti-FLAG antibody (green), anti-lamin A/C antibody (red) and DAPI (blue) of an untransfected cell bearing a nuclear bleb, and a cell transfected with 4 µg of wild-type Myc-Flag-tagged TOR1AIP1 plasmid. Image was taken using 100× magnification (c)