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
Title and authors | Publication | Year |
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Single-Cell Transcriptomics Reveal Disrupted Kidney Filter Cell-Cell Interactions after Early and Selective Podocyte Injury
AR Clark, J Marshall, Y Zhou, MS Montesinos, H Chen, L Nguyen, F Chen, A Greka |
The American Journal of Pathology | 2021 |
The glomerular filtration barrier: a structural target for novel kidney therapies
IS Daehn, JS Duffield |
Nature Reviews Drug Discovery | 2021 |
Abnormal Crosstalk between Endothelial Cells and Podocytes Mediates Tyrosine Kinase Inhibitor (TKI)-Induced Nephrotoxicity
X Gu, S Zhang, T Zhang |
Cells | 2021 |
TRPC5 Channel Inhibition Protects Podocytes in Puromycin-Aminonucleoside Induced Nephrosis Models
Y Zhou, C Kim, JL Pablo, F Zhang, JY Jung, L Xiao, S Bazua-Valenti, M Emani, CR Hopkins, A Weins, A Greka |
Frontiers in Medicine | 2021 |
The Mineralocorticoid Receptor in Salt-Sensitive Hypertension and Renal Injury
N Ayuzawa, T Fujita |
Journal of the American Society of Nephrology : JASN | 2021 |
Management of Steroid-Resistant Nephrotic Syndrome in Children
S Sachdeva, S Khan, C Davalos, C Avanthika, S Jhaveri, A Babu, D Patterson, AJ Yamani |
Cureus | 2021 |
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome
Y Mao, R Schneider, PF van der Ven, M Assent, K Lohanadan, V Klämbt, F Buerger, TM Kitzler, K Deutsch, M Nakayama, AJ Majmundar, N Mann, T Hermle, AC Onuchic-Whitford, W Zhou, NN Margam, R Duncan, J Marquez, M Khokha, HM Fathy, JA Kari, SE Desoky, LA Eid, HS Awad, M Al-Saffar, S Mane, RP Lifton, DO Fürst, S Shril, F Hildebrandt |
Kidney International Reports | 2021 |
Rho GTPases in kidney physiology and diseases
C Steichen, JC Hervé, T Hauet, N Bourmeyster |
Small GTPases | 2021 |
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
V Klämbt, Y Mao, R Schneider, F Buerger, H Shamseldin, AC Onuchic-Whitford, K Deutsch, TM Kitzler, M Nakayama, AJ Majmundar, N Mann, H Hugo, E Widmeier, W Tan, HL Rehm, S Mane, RP Lifton, FS Alkuraya, S Shril, F Hildebrandt |
Kidney International Reports | 2021 |
Urine-Derived Epithelial Cells as Models for Genetic Kidney Diseases
T Bondue, FO Arcolino, KR Veys, OC Adebayo, E Levtchenko, LP van den Heuvel, MA Elmonem |
Cells | 2021 |
Role of Rho in Salt-Sensitive Hypertension
W Kawarazaki, T Fujita |
International journal of molecular sciences | 2021 |
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice
AJ Majmundar, F Buerger, TA Forbes, V Klämbt, R Schneider, K Deutsch, TM Kitzler, SE Howden, M Scurr, KS Tan, M Krzeminski, E Widmeier, DA Braun, E Lai, I Ullah, A Amar, A Kolb, K Eddy, CH Chen, D Salmanullah, R Dai, M Nakayama, I Ottlewski, CM Kolvenbach, AC Onuchic-Whitford, Y Mao, N Mann, MM Nabhan, S Rosen, JD Forman-Kay, NA Soliman, A Heilos, R Kain, C Aufricht, S Mane, RP Lifton, S Shril, MH Little, F Hildebrandt |
Science Advances | 2021 |
Safety and Efficacy of GFB-887, a TRPC5 Channel Inhibitor, in Patients With Focal Segmental Glomerulosclerosis, Treatment-Resistant Minimal Change Disease, or Diabetic Nephropathy: TRACTION-2 Trial Design
L Walsh, JF Reilly, C Cornwall, GA Gaich, DS Gipson, HJ Heerspink, L Johnson, H Trachtman, KR Tuttle, YM Farag, K Padmanabhan, XR Pan-Zhou, JR Woodworth, FS Czerwiec |
Kidney International Reports | 2021 |
Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis
Q Li, A Gulati, M Lemaire, T Nottoli, A Bale, A Tufro |
Kidney International | 2021 |
Identification of Potential miRNA-mRNA Regulatory Network Contributing to Hypertrophic Cardiomyopathy (HCM)
L Wang, F Lu, J Xu |
Frontiers in Cardiovascular Medicine | 2021 |
Nephrotic-syndrome-associated mutation of KANK2 induces pathologic binding competition with physiological interactor KIF21A
Y Xu, C Guo, W Pan, C Zhao, Y Ding, X Xie, Z Wei, Y Sun, C Yu |
The Journal of biological chemistry | 2021 |
End‐stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygous NUP93 variant
R Acharya, K Upadhyay |
Clinical Case Reports | 2021 |