Espiritu, E.B., Jiang, H., Moreau-Marquis, S., Sullivan, M., Yan, K., Beer Stolz, D., Sampson, M.G., Hukriede, N.A., Swiatecka-Urban, A. (2019) The human nephrin Y1139RSL motif is essential for podocyte foot process organization and slit diaphragm formation during glomerular development. The Journal of biological chemistry. 294(28):10773-10788
|
Jobst-Schwan, T., Hoogstraten, C.A., Kolvenbach, C.M., Schmidt, J.M., Kolb, A., Eddy, K., Schneider, R., Ashraf, S., Widmeier, E., Majmundar, A.J., Hildebrandt, F. (2019) Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Kidney International. 95:1079-1090
|
Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmüller, J., Noegel, A.A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaroğlu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nürnberg, P., Khokha, M.K., Hildebrandt, F. (2018) Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. The Journal of Clinical Investigation. 128(10):4313-4328
|
Eneman, B., Elmonem, M.A., van den Heuvel, L.P., Khodaparast, L., Khodaparast, L., van Geet, C., Freson, K., Levtchenko, E. (2017) Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome. PLoS One. 12:e0182100
|
Wan, X., Chen, Z., Choi, W.I., Gee, H.Y., Hildebrandt, F., Zhou, W. (2016) Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1. Journal of the American Society of Nephrology : JASN. 27(4):1066-75
|
|
|
Ebarasi, L., Ashraf, S., Bierzynska, A., Gee, H.Y., McCarthy, H.J., Lovric, S., Sadowski, C.E., Pabst, W., Vega-Warner, V., Fang, H., Koziell, A., Simpson, M.A., Dursun, I., Serdaroglu, E., Levy, S., Saleem, M.A., Hildebrandt, F., Majumdar, A. (2015) Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome. American journal of human genetics. 96(1):153-61
|
Miyake, 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., Fujita, A., Miyatake, S., Tsurusaki, Y., Nakashima, M., Saitsu, H., Ohashi, K., Imamoto, N., Ryo, A., Ogata, K., Iijima, K., Matsumoto, N. (2015) Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. American journal of human genetics. 97(4):555-66
|
Gee, H.Y., Ashraf, S., Wan, X., Vega-Warner, V., Esteve-Rudd, J., Lovric, S., Fang, H., Hurd, T.W., Sadowski, C.E., Allen, S.J., Otto, E.A., Korkmaz, E., Washburn, J., Levy, S., Williams, D.S., Bakkaloglu, S.A., Zolotnitskaya, A., Ozaltin, F., Zhou, W., Hildebrandt, F. (2014) Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome. American journal of human genetics. 94(6):884-90
|
Gee, H.Y., Saisawat, P., Ashraf, S., Hurd, T.W., Vega-Warner, V., Fang, H., Beck, B.B., Gribouval, O., Zhou, W., Diaz, K.A., Natarajan, S., Wiggins, R.C., Lovric, S., Chernin, G., Schoeb, D.S., Ovunc, B., Frishberg, Y., Soliman, N.A., Fathy, H.M., Goebel, H., Hoefele, J., Weber, L.T., Innis, J.W., Faul, C., Han, Z., Washburn, J., Antignac, C., Levy, S., Otto, E.A., and Hildebrandt, F. (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J. Clin. Invest.. 123(8):3243-3253
|
Heeringa, S.F., Chernin, G., Chaki, M., Zhou, W., Sloan, A.J., Ji, Z., Xie, L.X., Salviati, L., Hurd, T.W., Vega-Warner, V., Killen, P.D., Raphael, Y., Ashraf, S., Ovunc, B., Schoeb, D.S., McLaughlin, H.M., Airik, R., Vlangos, C.N., Gbadegesin, R., Hinkes, B., Saisawat, P., Trevisson, E., Doimo, M., Casarin, A., Pertegato, V., Giorgi, G., Prokisch, H., Rötig, A., Nürnberg, G., Becker, C., Wang, S., Ozaltin, F., Topaloglu, R., Bakkaloglu, A., Bakkaloglu, S.A., Müller, D., Beissert, A., Mir, S., Berdeli, A., Varpizen, S., Zenker, M., Matejas, V., Santos-Ocaña, C., Navas, P., Kusakabe, T., Kispert, A., Akman, S., Soliman, N.A., Krick, S., Mundel, P., Reiser, J., Nürnberg, P., Clarke, C.F., Wiggins, R.C., Faul, C., and Hildebrandt, F. (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J. Clin. Invest.. 121(5):2013-2024
|
