Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude of unknown single-gene causes. We combined homozygosity mapping with whole-exome resequencing and identified an
Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, Toby W. Hurd, Virginia Vega-Warner, Humphrey Fang, Bodo B. Beck, Olivier Gribouval, Weibin Zhou, Katrina A. Diaz, Sivakumar Natarajan, Roger C. Wiggins, Svjetlana Lovric, Gil Chernin, Dominik S. Schoeb, Bugsu Ovunc, Yaacov Frishberg, Neveen A. Soliman, Hanan M. Fathy, Heike Goebel, Julia Hoefele, Lutz T. Weber, Jeffrey W. Innis, Christian Faul, Zhe Han, Joseph Washburn, Corinne Antignac, Shawn Levy, Edgar A. Otto, Friedhelm Hildebrandt
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A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis
Haiyang Yu, Mykyta Artomov, Sebastian Brähler, M. Christine Stander, Ghaidan Shamsan, Matthew G. Sampson, Michael White, Matthias Kretzler, Jeffrey H. Miner, sanjay jain, Cheryl Winkler, Robi Mitra, Jeffrey B. Kopp, Mark J. Daly, Andrey Shaw |
Journal of Clinical Investigation | 2016 |
Podocytes
J Reiser, MM Altintas |
F1000Research | 2016 |
Drug discovery in focal and segmental glomerulosclerosis
N Pullen, A Fornoni |
Kidney International | 2016 |
Targeting the podocyte cytoskeleton: from pathogenesis to therapy in proteinuric kidney disease
X Tian, S Ishibe |
Nephrology Dialysis Transplantation | 2016 |
Podocyte–actin dynamics in health and disease
L Perico, S Conti, A Benigni, G Remuzzi |
Nature Reviews Nephrology | 2016 |
Podocytes: the Weakest Link in Diabetic Kidney Disease?
JS Lin, K Susztak |
Current Diabetes Reports | 2016 |
Human genetics of nephrotic syndrome and the quest for precision medicine:
A Greka |
Current Opinion in Nephrology and Hypertension | 2016 |
Synaptopodin Is a Coincidence Detector of Tyrosine versus Serine/Threonine Phosphorylation for the Modulation of Rho Protein Crosstalk in Podocytes
L Buvall, H Wallentin, J Sieber, S Andreeva, HY Choi, P Mundel, A Greka |
Journal of the American Society of Nephrology : JASN | 2016 |
The etiology of congenital nephrotic syndrome: current status and challenges
JJ Wang, JH Mao |
World Journal of Pediatrics | 2016 |
Cell biology and genetics of minimal change disease
MA Saleem, Y Kobayashi |
F1000Research | 2016 |
FAT1 mutations cause a glomerulotubular nephropathy
HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, S Lovric, S Ashraf, DA Braun, J Halbritter, H Fang, R Airik, V Vega-Warner, KJ Cho, TA Chan, LG Morris, C ffrench-Constant, N Allen, H McNeill, R Büscher, H Kyrieleis, M Wallot, A Gaspert, T Kistler, DV Milford, MA Saleem, WT Keng, SI Alexander, RP Valentini, C Licht, JC Teh, R Bogdanovic, A Koziell, A Bierzynska, NA Soliman, EA Otto, RP Lifton, LB Holzman, NE Sibinga, G Walz, A Tufro, F Hildebrandt |
Nature Communications | 2016 |
Dosage-dependent Role of RAC1 in Podocyte Injury
X Wan, MS Lee, W Zhou |
American journal of physiology. Renal physiology | 2016 |
Exploring the genetic basis of early-onset chronic kidney disease
A Vivante, F Hildebrandt |
Nature Reviews Nephrology | 2016 |
APOL1-G1 in Nephrocytes Induces Hypertrophy and Accelerates Cell Death
Y Fu, J Zhu, A Richman, Y Zhang, X Xie, JR Das, J Li, PE Ray, Z Han |
Journal of the American Society of Nephrology : JASN | 2016 |
Disease-causing mutations of RhoGDIα induce Rac1 hyperactivation in podocytes
D Auguste, M Maier, C Baldwin, L Aoudjit, R Robins, IR Gupta, T Takano |
Small GTPases | 2016 |
Functional validation of tensin2 SH2-PTB domain by CRISPR/Cas9-mediated genome editing
K MARUSUGI, K NAKANO, H SASAKI, J KIMURA, R YANOBU-TAKANASHI, T OKAMURA, N SASAKI |
Journal of Veterinary Medical Science | 2016 |
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
DA Braun, CE Sadowski, S Kohl, S Lovric, SA Astrinidis, WL Pabst, HY Gee, S Ashraf, JA Lawson, S Shril, M Airik, W Tan, D Schapiro, J Rao, WI Choi, T Hermle, MJ Kemper, M Pohl, F Ozaltin, M Konrad, R Bogdanovic, R Büscher, U Helmchen, E Serdaroglu, RP Lifton, W Antonin, F Hildebrandt |
Nature Genetics | 2016 |
Pathogenesis of Focal Segmental Glomerulosclerosis
BJ Lim, JW Yang, WS Do, AB Fogo |
Journal of Pathology and Translational Medcine | 2016 |
Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte
T Hermle, DA Braun, M Helmsta dter, TB Huber, F Hildebrandt |
Journal of the American Society of Nephrology : JASN | 2016 |
A small molecule screening to detect potential therapeutic targets in human podocytes
E Widmeier, W Tan, M Airik, F Hildebrandt |
American journal of physiology. Renal physiology | 2016 |
Loss of endogenous thymosin β4 accelerates glomerular disease
E Vasilopoulou, M Kolatsi-Joannou, MT Lindenmeyer, KE White, MG Robson, CD Cohen, NJ Sebire, PR Riley, PJ Winyard, DA Long |
Kidney International | 2016 |
Steroid-resistant nephrotic syndrome: a persistent challenge for pediatric nephrology
S Dogra, F Kaskel |
Pediatric Nephrology | 2016 |