PMC Articles for MedGen (Select 882198) - PMC

China Nagano, Shigeo Hara, Norishige Yoshikawa, Asami Takeda, Yoshimitsu Gotoh, Riku Hamada, Kentaro Matsuoka, Masaki Yamamoto, Shuichiro Fujinaga, Koji Sakuraya, Koichi Kamei, Yuko Hamasaki, Hideyo Oguchi, Yoshinori Araki, Yayoi Ogawa, Takayuki Okamoto, Shuichi Ito, Seiji Tanaka, Hiroshi Kaito, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Hiroaki Nagase, Kazumoto Iijima, Kandai Nozu

Kidney360. 2022 Aug 25; 3(8): 1384–1393. Published online 2022 May 24. doi: 10.34067/KID.0000812022

PMCID:: PMC9416844

Abstract Article PDF–1.3M

Select item 91301464.

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

Abstract Article PDF–1.5M

Select item 85199565.

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

Abstract Article PDF–12M

Select item 82990466.

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

Abstract Article PDF–11M

Select item 74764147.

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

Abstract Article PDF–1.3M

Select item 72103078.

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

Abstract Article PDF–3.0M

Select item 47410479.

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

Abstract Article

Select item 469657910.

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

Abstract Article

Select item 458907311.

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

Abstract Article PDF–1008K

Select item 444687712.

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

Abstract Article

Select item 442224713.

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

Abstract Article

Select item 361395814.

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

Abstract Article

Select item 315222515.

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

Abstract Article

Select item 308778116.

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

Abstract Article

Select item 306852117.

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

Abstract Article PDF–84K

Select item 301986018.

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

Abstract Article PDF–11M

Select item 300177319.

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

PMCID:: PMC3001773

Abstract Article

Select item 297440820.

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

Abstract Article

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 23

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity