Journal: Human Genetics

Article Title: De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

doi: 10.1007/s00439-020-02175-x

Figure Lengend Snippet: Immunofluorescence analysis performed on HEK293 cells ( a ) and human fibroblasts ( b ). The N-terminal antibody detected isoforms 1, 3.1 and 3.2 in the cytoplasm and nucleus. Interestingly, an association with centrosomes (white arrow) and kinetochores was detected. Staining with a C-terminal antibody, detecting the full-length isoform 1 and additional hypothetic short C-terminal isoforms, showed a mainly nuclear pattern without a co-localization with the mitotic spindle, centrosomes or kinetochores. α-Tubulin was used for cytoskeletal staining and nuclei were stained using DAPI. Images were obtained using a confocal laser microscope with × 600 magnification, and an additional software magnification as indicated in the respectively images

Article Snippet: Subsequently, cells were washed twice and mounted using FluoroshieldTM with DAPI (Merck Millipore).

Techniques: Immunofluorescence, Staining, Microscopy, Software