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Items: 1 to 20 of 35

1.
The Glomerular Basement Membrane as a Barrier to Albumin
Jung Hee Suh, Jeffrey H. Miner
Nat Rev Nephrol. Author manuscript; available in PMC 2014 Feb 1.
Published in final edited form as: Nat Rev Nephrol. 2013 Aug; 9(8): 10.1038/nrneph.2013.109. Published online 2013 Jun 18. doi: 10.1038/nrneph.2013.109
PMCID:
PMC3839671
AbstractArticlePDF–325K
2.
A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome: Susceptibility and steroid responsiveness
Shi-Sheng Han, Yan-Qiu Xu, Yan Lu, Xiang-Chen Gu, Yi Wang
Medicine (Baltimore) 2017 Jun; 96(24): e7191. Published online 2017 Jun 16. doi: 10.1097/MD.0000000000007191
Correction in:
Medicine (Baltimore). 2017 Jun; 96(26): e7453.
PMCID:
PMC5478346
AbstractArticlePDF–334K
3.
The Role of Proprotein Convertase Subtilisin/Kexin Type 9 in Nephrotic Syndrome-Associated Hypercholesterolemia: Haas et al: PCSK9 in Nephrotic Syndrome Hypercholesterolemia
Mary E. Haas, Amy E. Levenson, Xiaowei Sun, Wan-Hui Liao, Joseph M. Rutkowski, Nephrotic Syndrome Study Network, Sarah D de Ferranti, Valerie A. Schumacher, Philipp E. Scherer, David J. Salant, Sudha B. Biddinger
Circulation. Author manuscript; available in PMC 2017 Jul 5.
Published in final edited form as: Circulation. 2016 Jul 5; 134(1): 61–72. doi: 10.1161/CIRCULATIONAHA.115.020912
PMCID:
PMC5345853
AbstractArticlePDF–2.8M
4.
Disease-causing mutations of RhoGDIα induce Rac1 hyperactivation in podocytes
David Auguste, Mirela Maier, Cindy Baldwin, Lamine Aoudjit, Richard Robins, Indra R. Gupta, Tomoko Takano
Small GTPases. 2016 Apr-Jun; 7(2): 107–121. Published online 2016 Jan 4. doi: 10.1080/21541248.2015.1113353
PMCID:
PMC4905261
AbstractArticlePDF–1.2M
5.
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease
Rachel Lennon, Helen M. Stuart, Agnieszka Bierzynska, Michael J. Randles, Bronwyn Kerr, Katherine A. Hillman, Gauri Batra, Joanna Campbell, Helen Storey, Frances A. Flinter, Ania Koziell, Gavin I. Welsh, Moin A. Saleem, Nicholas J. A. Webb, Adrian S. Woolf
Pediatr Nephrol. 2015; 30(9): 1459–1465. Published online 2015 Mar 5. doi: 10.1007/s00467-015-3067-9
PMCID:
PMC4536279
AbstractArticlePDF–797K
6.
Differential microRNA expression in the serum of patients with nephrotic syndrome and clinical correlation analysis
Jian Teng, Fang Sun, Peng-Fei Yu, Ji-Xia Li, Dong Yuan, Jing Chang, Shu-Hua Lin
Int J Clin Exp Pathol. 2015; 8(6): 7282–7286. Published online 2015 Jun 1.
PMCID:
PMC4525962
AbstractArticlePDF–331K
7.
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome
Heon Yung Gee, Fujian Zhang, Shazia Ashraf, Stefan Kohl, Carolin E. Sadowski, Virginia Vega-Warner, Weibin Zhou, Svjetlana Lovric, Humphrey Fang, Margaret Nettleton, Jun-yi Zhu, Julia Hoefele, Lutz T. Weber, Ludmila Podracka, Andrej Boor, Henry Fehrenbach, Jeffrey W. Innis, Joseph Washburn, Shawn Levy, Richard P. Lifton, Edgar A. Otto, Zhe Han, Friedhelm Hildebrandt
J Clin Invest. 2015 Jun 1; 125(6): 2375–2384. Published online 2015 May 11. doi: 10.1172/JCI79504
PMCID:
PMC4497755
AbstractArticlePDF–3.5M
8.
Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1
Anja Lehnhardt, Claartje Karnatz, Thurid Ahlenstiel-Grunow, Kerstin Benz, Marcus R. Benz, Klemens Budde, Anja K. Büscher, Thomas Fehr, Markus Feldkötter, Norbert Graf, Britta Höcker, Therese Jungraithmayr, Günter Klaus, Birgit Koehler, Martin Konrad, Birgitta Kranz, Carmen R. Montoya, Dominik Müller, Thomas J. Neuhaus, Jun Oh, Lars Pape, Martin Pohl, Brigitte Royer-Pokora, Uwe Querfeld, Reinhard Schneppenheim, Hagen Staude, Giuseppina Spartà, Kirsten Timmermann, Frauke Wilkening, Simone Wygoda, Carsten Bergmann, Markus J. Kemper
Clin J Am Soc Nephrol. 2015 May 7; 10(5): 825–831. Published online 2015 Mar 27. doi: 10.2215/CJN.10141014
PMCID:
PMC4422247
AbstractArticle
9.
Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort
Agnes Trautmann, Monica Bodria, Fatih Ozaltin, Alaleh Gheisari, Anette Melk, Marta Azocar, Ali Anarat, Salim Caliskan, Francesco Emma, Jutta Gellermann, Jun Oh, Esra Baskin, Joanna Ksiazek, Giuseppe Remuzzi, Ozlem Erdogan, Sema Akman, Jiri Dusek, Tinatin Davitaia, Ozan Özkaya, Fotios Papachristou, Agnieszka Firszt-Adamczyk, Tomasz Urasinski, Sara Testa, Rafael T. Krmar, Lidia Hyla-Klekot, Andrea Pasini, Z. Birsin Özcakar, Peter Sallay, Nilgun Cakar, Monica Galanti, Joelle Terzic, Bilal Aoun, Alberto Caldas Afonso, Hanna Szymanik-Grzelak, Beata S. Lipska, Sven Schnaidt, Franz Schaefer
Clin J Am Soc Nephrol. 2015 Apr 7; 10(4): 592–600. Published online 2015 Jan 29. doi: 10.2215/CJN.06260614
PMCID:
PMC4386250
AbstractArticle
10.
Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism
Li Lin, Yuhong Ye, Haidong Fu, Weizhong Gu, Manli Zhao, Jingmiao Sun, Zhongkai Cao, Guoping Huang, Yi Xie, Fei Liu, Lu Li, Qiuyu Li, Jianhua Mao, Lidan Hu
Cell Commun Signal. 2023; 21: 324. Published online 2023 Nov 13. doi: 10.1186/s12964-023-01218-w
PMCID:
PMC10644598
AbstractArticlePDF–7.9M
11.
Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria
Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain
PLoS One. 2013; 8(10): e76360. Published online 2013 Oct 10. doi: 10.1371/journal.pone.0076360
PMCID:
PMC3794937
AbstractArticlePDF–1.0M
12.
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
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
J Clin Invest. 2013 Aug 1; 123(8): 3243–3253. Published online 2013 Jul 8. doi: 10.1172/JCI69134
PMCID:
PMC3726174
AbstractArticlePDF–2.9M
13.
ARHGDIA: a novel gene implicated in nephrotic syndrome
Indra Rani Gupta, Cindy Baldwin, David Auguste, Kevin C H Ha, Jasmine El Andalousi, Somayyeh Fahiminiya, Martin Bitzan, Chantal Bernard, Mohammad Reza Akbari, Steven A Narod, David S Rosenblatt, Jacek Majewski, Tomoko Takano
J Med Genet. 2013 May; 50(5): 330–338. Published online 2013 Feb 22. doi: 10.1136/jmedgenet-2012-101442
PMCID:
PMC3625828
AbstractArticlePDF–491K
14.
Deficits in Sialylation Impair Podocyte Maturation
Birgit Weinhold, Melanie Sellmeier, Wiebke Schaper, Linda Blume, Brigitte Philippens, Elina Kats, Ulrike Bernard, Sebastian P. Galuska, Hildegard Geyer, Rudolf Geyer, Kirstin Worthmann, Mario Schiffer, Stephanie Groos, Rita Gerardy-Schahn, Anja K. Münster-Kühnel
J Am Soc Nephrol. 2012 Aug; 23(8): 1319–1328. doi: 10.1681/ASN.2011090947
PMCID:
PMC3402283
AbstractArticle
15.
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.
M. Kestilä, M. Männikkö, C. Holmberg, G. Gyapay, J. Weissenbach, E. R. Savolainen, L. Peltonen, K. Tryggvason
Am J Hum Genet. 1994 May; 54(5): 757–764.
PMCID:
PMC1918269
SummaryPage BrowsePDF–1.1M
16.
Chronic renal failure in children.
J. G. Mongeau, P. Robitaille, M. M. Grall
Can Med Assoc J. 1978 Apr 22; 118(8): 907-10, 913.
PMCID:
PMC1818236
SummaryPage BrowsePDF–2.1M
17.
The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes
Claudia Rohr, Jürgen Prestel, Laurence Heidet, Hiltraud Hosser, Wilhelm Kriz, Randy L. Johnson, Corinne Antignac, Ralph Witzgall
J Clin Invest. 2002 Apr 15; 109(8): 1073–1082. doi: 10.1172/JCI13961
PMCID:
PMC150943
AbstractArticlePDF–5.7M
18.
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito
BMC Nephrol. 2017; 18: 300. Published online 2017 Sep 26. doi: 10.1186/s12882-017-0721-4
PMCID:
PMC5615464
AbstractArticlePDF–1.6M
19.
Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome – a population-based analysis of their significance
C. J. Platt, A. Bierzynska, W. Ding, S. A. Saleem, A. Koziell, M. A. Saleem
Sci Rep. 2024; 14: 18568. Published online 2024 Aug 10. doi: 10.1038/s41598-024-68837-2
PMCID:
PMC11316802
AbstractArticlePDF–1.1M
20.
Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review
Yiyang Li, Chuan Tian, Yajun Wang, Guoda Ma, Riling Chen
BMC Pediatr. 2022; 22: 349. Published online 2022 Jun 16. doi: 10.1186/s12887-022-03358-3
PMCID:
PMC9204972
AbstractArticlePDF–1.0M

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