Dorval, G., Kuzmuk, V., Gribouval, O., Welsh, G.I., Bierzynska, A., Schmitt, A., Miserey-Lenkei, S., Koziell, A., Haq, S., Benmerah, A., Mollet, G., Boyer, O., Saleem, M.A., Antignac, C. (2019) TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. American journal of human genetics. 104(2):348-355
|
Gbadegesin, R.A., Hall, G., Adeyemo, A., Hanke, N., Tossidou, I., Burchette, J., Wu, G., Homstad, A., Sparks, M.A., Gomez, J., Jiang, R., Alonso, A., Lavin, P., Conlon, P., Korstanje, R., Stander, M.C., Shamsan, G., Barua, M., Spurney, R., Singhal, P.C., Kopp, J.B., Haller, H., Howell, D., Pollak, M.R., Shaw, A.S., Schiffer, M., Winn, M.P. (2014) Mutations in the Gene That Encodes the F-Actin Binding Protein Anillin Cause FSGS. Journal of the American Society of Nephrology : JASN. 25(9):1991-2002
|
Hall, G., Gbadegesin, R.A., Lavin, P., Wu, G., Liu, Y., Oh, E.C., Wang, L., Spurney, R.F., Eckel, J., Lindsey, T., Homstad, A., Malone, A.F., Phelan, P.J., Shaw, A., Howell, D.N., Conlon, P.J., Katsanis, N., Winn, M.P. (2015) A Novel Missense Mutation of Wilms' Tumor 1 Causes Autosomal Dominant FSGS. Journal of the American Society of Nephrology : JASN. 26(4):831-43
|
Hall, G., Lane, B.M., Khan, K., Pediaditakis, I., Xiao, J., Wu, G., Wang, L., Kovalik, M.E., Chryst-Stangl, M., Davis, E.E., Spurney, R.F., Gbadegesin, R.A. (2018) The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.. Journal of the American Society of Nephrology : JASN. 29(8):2110-2122
|
Hansen, K.U.I., Siegerist, F., Daniel, S., Schindler, M., Iervolino, A., Blumenthal, A., Daniel, C., Amann, K., Zhou, W., Endlich, K., Endlich, N. (2020) Prolonged podocyte depletion in larval zebrafish resembles mammalian focal and segmental glomerulosclerosis. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 34(12):15961-15974
|
Müller-Deile, J., Dannenberg, J., Schroder, P., Lin, M.H., Miner, J.H., Chen, R., Bräsen, J.H., Thum, T., Nyström, J., Staggs, L.B., Haller, H., Fiedler, J., Lorenzen, J.M., Schiffer, M. (2017) Podocytes regulate the glomerular basement membrane protein nephronectin by means of miR-378a-3p in glomerular diseases. Kidney International. 92(4):836-849
|
Müller-Deile, J., Sarau, G., Kotb, A.M., Jaremenko, C., Rolle-Kampczyk, U.E., Daniel, C., Kalkhof, S., Christiansen, S.H., Schiffer, M. (2021) Novel diagnostic and therapeutic techniques reveal changed metabolic profiles in recurrent focal segmental glomerulosclerosis. Scientific Reports. 11:4577
|
Rinschen, M.M., Gödel, M., Grahammer, F., Zschiedrich, S., Helmstädter, M., Kretz, O., Zarei, M., Braun, D.A., Dittrich, S., Pahmeyer, C., Schroder, P., Teetzen, C., Gee, H., Daouk, G., Pohl, M., Kuhn, E., Schermer, B., Küttner, V., Boerries, M., Busch, H., Schiffer, M., Bergmann, C., Krüger, M., Hildebrandt, F., Dengjel, J., Benzing, T., Huber, T.B. (2018) A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Reports. 23:2495-2508
|
Schulz, A., Müller, N.V., van de Lest, N.A., Eisenreich, A., Schmidbauer, M., Barysenka, A., Purfürst, B., Sporbert, A., Lorenzen, T., Meyer, A.M., Herlan, L., Witten, A., Rühle, F., Zhou, W., de Heer, E., Scharpfenecker, M., Panáková, D., Stoll, M., Kreutz, R. (2019) Analysis of the genomic architecture of a complex trait locus in hypertensive rat models links Tmem63c to kidney damage. eLIFE. 8:
|
