Found 5 results
Filters: Author is Hildebrandt, Friedhelm  [Clear All Filters]
2017
Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ et al..  2017.  Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.. N Engl J Med. 376(8):742-754.
Lu H, Galeano MCRondón, Ott E, Kaeslin G, P Kausalya J, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M et al..  2017.  Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.. Nat Genet. 49(7):1025-1034.
2016
Wan X, Chen Z, Choi W-I, Gee HYung, Hildebrandt F, Zhou W.  2016.  Loss of Epithelial Membrane Protein 2 Aggravates Podocyte Injury via Upregulation of Caveolin-1.. J Am Soc Nephrol. 27(4):1066-75.
2013
Ashraf S, Gee HYung, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C et al..  2013.  ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.. J Clin Invest. 123(12):5179-89.
Gee HYung, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA et al..  2013.  ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.. J Clin Invest. 123(8):3243-53.