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Items: 1 to 20 of 21

1.
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa
Louansha Nandlal, Cheryl A. Winkler, Rajendra Bhimma, Sungkweon Cho, George W. Nelson, Sudesh Haripershad, Thajasvarie Naicker
Eur J Pediatr. Author manuscript; available in PMC 2023 Nov 24.
Published in final edited form as: Eur J Pediatr. 2022 Oct; 181(10): 3595–3606. Published online 2022 Aug 3. doi: 10.1007/s00431-022-04581-x
PMCID:
PMC10673688
ArticlePubReaderPDF–667KCite
2.
Alteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children
Martin Bezdicka, Filip Kaufman, Ivana Krizova, Alzbeta Dostalkova, Michaela Rumlova, Tomas Seeman, Karel Vondrak, Filip Fencl, Jakub Zieg, Ondrej Soucek
Sci Rep. 2022; 12: 8704. Published online 2022 May 24. doi: 10.1038/s41598-022-12760-x
PMCID:
PMC9130146
ArticlePubReaderPDF–1.5MCite
3.
Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis
Akiko Tanoue, Kan Katayama, Yugo Ito, Kensuke Joh, Masaaki Toda, Taro Yasuma, Corina N. D’Alessandro-Gabazza, Hiroshi Kawachi, Kunimasa Yan, Masaaki Ito, Esteban C. Gabazza, Karl Tryggvason, Kaoru Dohi
Sci Rep. 2021; 11: 20556. Published online 2021 Oct 15. doi: 10.1038/s41598-021-00159-z
PMCID:
PMC8519956
ArticlePubReaderPDF–12MCite
4.
CMIP interacts with WT1 and targets it on the proteasome degradation pathway
Shao‐Yu Zhang, Qingfeng Fan, Anissa Moktefi, Virginie Ory, Vincent Audard, Andre Pawlak, Mario Ollero, Dil Sahali, Carole Henique
Clin Transl Med. 2021 Jul; 11(7): e460. Published online 2021 Jul 22. doi: 10.1002/ctm2.460
PMCID:
PMC8299046
ArticlePubReaderPDF–11MCite
5.
Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1-associated nephrotic syndrome type 4
Erica Sanford, Terence Wong, Katarzyna A. Ellsworth, Elizabeth Ingulli, Stephen F. Kingsmore
Cold Spring Harb Mol Case Stud. 2020 Aug; 6(4): a005470. doi: 10.1101/mcs.a005470
PMCID:
PMC7476414
ArticlePubReaderPDF–1.3MCite
6.
PLCE1 regulates the migration, proliferation, and differentiation of podocytes
Seyoung Yu, Won-Il Choi, Yo Jun Choi, Hye-Youn Kim, Friedhelm Hildebrandt, Heon Yung Gee
Exp Mol Med. 2020 Apr; 52(4): 594–603. Published online 2020 Apr 1. doi: 10.1038/s12276-020-0410-4
PMCID:
PMC7210307
ArticlePubReaderPDF–3.0MCite
7.
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid–Resistant Nephrotic Syndrome
Anja K. Büscher, Bodo B. Beck, Anette Melk, Julia Hoefele, Birgitta Kranz, Daniel Bamborschke, Sabrina Baig, Bärbel Lange-Sperandio, Theresa Jungraithmayr, Lutz T. Weber, Markus J. Kemper, Burkhard Tönshoff, Peter F. Hoyer, Martin Konrad, Stefanie Weber
Clin J Am Soc Nephrol. 2016 Feb 5; 11(2): 245–253. Published online 2015 Dec 14. doi: 10.2215/CJN.07370715
PMCID:
PMC4741047
ArticlePubReaderCite
8.
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS
Emine Korkmaz, Beata S. Lipska-Ziętkiewicz, Olivia Boyer, Olivier Gribouval, Cecile Fourrage, Mansoureh Tabatabaei, Sven Schnaidt, Safak Gucer, Figen Kaymaz, Mustafa Arici, Ayhan Dinckan, Sevgi Mir, Aysun K. Bayazit, Sevinc Emre, Ayse Balat, Lesley Rees, Rukshana Shroff, Carsten Bergmann, Chebl Mourani, Corinne Antignac, Fatih Ozaltin, Franz Schaefer, the PodoNet Consortium
J Am Soc Nephrol. 2016 Jan; 27(1): 63–68. Published online 2015 May 12. doi: 10.1681/ASN.2014121240
PMCID:
PMC4696579
ArticlePubReaderCite
9.
NPHS2 mutations account for only 15 % of nephrotic syndrome cases
Mara Sanches Guaragna, Anna Cristina GB Lutaif, Cristiane SC Piveta, Marcela L. Souza, Suéllen R. de Souza, Taciane B. Henriques, Andréa T. Maciel-Guerra, Vera MS Belangero, Gil Guerra-Junior, Maricilda P. De Mello
BMC Med Genet. 2015; 16: 88. Published online 2015 Sep 29. doi: 10.1186/s12881-015-0231-9
PMCID:
PMC4589073
ArticlePubReaderPDF–1008KCite
10.
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf, Werner L. Pabst, Heon Yung Gee, Stefan Kohl, Susanne Engelmann, Virginia Vega-Warner, Humphrey Fang, Jan Halbritter, Michael J. Somers, Weizhen Tan, Shirlee Shril, Inès Fessi, Richard P. Lifton, Detlef Bockenhauer, Sherif El-Desoky, Jameela A. Kari, Martin Zenker, Markus J. Kemper, Dominik Mueller, Hanan M. Fathy, Neveen A. Soliman, the SRNS Study Group, Friedhelm Hildebrandt
J Am Soc Nephrol. 2015 Jun; 26(6): 1279–1289. Published online 2014 Oct 27. doi: 10.1681/ASN.2014050489
PMCID:
PMC4446877
ArticlePubReaderCite
11.
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
ArticlePubReaderCite
12.
Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome
Hugh J. McCarthy, Agnieszka Bierzynska, Matt Wherlock, Milos Ognjanovic, Larissa Kerecuk, Shivaram Hegde, Sally Feather, Rodney D. Gilbert, Leah Krischock, Caroline Jones, Manish D. Sinha, Nicholas J.A. Webb, Martin Christian, Margaret M. Williams, Stephen Marks, Ania Koziell, Gavin I. Welsh, Moin A. Saleem, on behalf of RADAR the UK SRNS Study Group
Clin J Am Soc Nephrol. 2013 Apr 5; 8(4): 637–648. Published online 2013 Jan 24. doi: 10.2215/CJN.07200712
PMCID:
PMC3613958
ArticlePubReaderCite
13.
Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome
Eduardo Machuca, Geneviève Benoit, Fabien Nevo, Marie-Josèphe Tête, Olivier Gribouval, Audrey Pawtowski, Per Brandström, Chantal Loirat, Patrick Niaudet, Marie-Claire Gubler, Corinne Antignac
J Am Soc Nephrol. 2010 Jul; 21(7): 1209–1217. doi: 10.1681/ASN.2009121309
PMCID:
PMC3152225
ArticlePubReaderCite
14.
Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
Sheila Santín, Gemma Bullich, Bárbara Tazón-Vega, Rafael García-Maset, Isabel Giménez, Irene Silva, Patricia Ruíz, José Ballarín, Roser Torra, Elisabet Ars
Clin J Am Soc Nephrol. 2011 May; 6(5): 1139–1148. doi: 10.2215/CJN.05260610
PMCID:
PMC3087781
ArticlePubReaderCite
15.
Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations
Anna Maria Wasilewska, Elżbieta Kuroczycka-Saniutycz, Walentyna Zoch-Zwierz
Eur J Pediatr. 2011; 170(3): 389–391. Published online 2010 Sep 17. doi: 10.1007/s00431-010-1278-4
PMCID:
PMC3068521
ArticlePubReaderPDF–84KCite
16.
Requirement for Class II Phosphoinositide 3-Kinase C2α in Maintenance of Glomerular Structure and Function
David P. Harris, Peter Vogel, Marie Wims, Karen Moberg, Juliane Humphries, Kanchan G. Jhaver, Christopher M. DaCosta, Melanie K. Shadoan, Nianhua Xu, Gwenn M. Hansen, Sanjeevi Balakrishnan, Jan Domin, David R. Powell, Tamas Oravecz
Mol Cell Biol. 2011 Jan; 31(1): 63–80. Published online 2010 Oct 25. doi: 10.1128/MCB.00468-10
PMCID:
PMC3019860
ArticlePubReaderPDF–11MCite
17.
Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome
Anja K. Büscher, Birgitta Kranz, Rainer Büscher, Friedhelm Hildebrandt, Bernd Dworniczak, Petra Pennekamp, Eberhard Kuwertz-Bröking, Anne-Margret Wingen, Ulrike John, Markus Kemper, Leo Monnens, Peter F. Hoyer, Stefanie Weber, Martin Konrad
Clin J Am Soc Nephrol. 2010 Nov; 5(11): 2075–2084. doi: 10.2215/CJN.01190210
Correction in:
Clin J Am Soc Nephrol, volume 7 on page 1372
PMCID:
PMC3001773
ArticlePubReaderCite
18.
Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations
Gil Chernin, Virginia Vega-Warner, Dominik S. Schoeb, Saskia F. Heeringa, Bugsu Ovunc, Pawaree Saisawat, Roxana Cleper, Fatih Ozaltin, Friedhelm Hildebrandt, and Members of the GPN Study Group
Clin J Am Soc Nephrol. 2010 Sep; 5(9): 1655–1662. doi: 10.2215/CJN.09351209
PMCID:
PMC2974408
ArticlePubReaderCite
19.
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis—a review
M. M. Löwik, P. J. Groenen, E. N. Levtchenko, L. A. Monnens, L. P. van den Heuvel
Eur J Pediatr. 2009 Nov; 168(11): 1291–1304. Published online 2009 Jun 27. doi: 10.1007/s00431-009-1017-x
PMCID:
PMC2745545
ArticlePubReaderPDF–377KCite
20.
Activation of podocyte Notch mediates early Wt1 glomerulopathy
Rowan I. Asfahani, Mona M. Tahoun, Eve V. Miller-Hodges, Jack Bellerby, Alex K. Virasami, Robert D. Sampson, Dale Moulding, Neil J. Sebire, Peter Hohenstein, Peter J. Scambler, Aoife M. Waters
Kidney Int. 2018 Apr; 93(4): 903–920. doi: 10.1016/j.kint.2017.11.014
PMCID:
PMC6169130
ArticlePubReaderCite

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