Am. J. Hum. Genet.
Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome.
Niyake, N., Tsukaguchi, H., Koshimizu, E., Shono, A., Matsunaga, S., Shiina, M., Mimura, Y., Imamura, S., Hirose, T., Okudela, K., Nozu, K., Akioka, Y., Hattori, M., Yoshikawa, N., Kitamura, A., Cheong, H.I., Kagami, S., Yamashita, M., Fugita, A., Miyatake, S., Tsurusaki, Y., Nakashima, M., Saitsu, H., Ohashi, K., Imamoto, N. and Ryo, A.
Notes: The interaction of NUP107 and NUP133 were investigated by several means. First, in vitro expressed, biotinylated NUP107 was mixed with FLAG-tagged NUP133 and pulled down with Streptavidin MagneSphere® Particles and blotted for reaction with Anti-FLAG antibodies. HeLa cells were transfected with a GFP-NUP107 fusion vector using ViaFect™ Transfection Reagent (no details provided) and immunoprecipitated then blotted to identify NUP133 in the pull down. Subcellular localization of GFP-NUP107 was examined as well. RT-PCR analysis of nup107 splicing variants in zebrafish relied on M-MLV Reverse Transcriptase for cDNA synthesis. (4675)
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