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Items: 1 to 20 of 37

1.
Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence
Wen Y. Ding, Ania Koziell, Hugh J. McCarthy, Agnieszka Bierzynska, Murali K. Bhagavatula, Jan A. Dudley, Carol D. Inward, Richard J. Coward, Jane Tizard, Christopher Reid, Corinne Antignac, Olivia Boyer, Moin A. Saleem
J Am Soc Nephrol. 2014 Jun; 25(6): 1342–1348. Published online 2014 Feb 7. doi: 10.1681/ASN.2013080852
PMCID:
PMC4033379
AbstractArticle
2.
Spectrum of mutations in steroid-resistant nephrotic syndrome in Chinese children
Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhuwen Yi, Li Yu, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Dr. Jie Ding, Dr. Friedhelm Hildebrandt
Pediatr Nephrol. Author manuscript; available in PMC 2017 Jul 1.
Published in final edited form as: Pediatr Nephrol. 2017 Jul; 32(7): 1181–1192. Published online 2017 Feb 15. doi: 10.1007/s00467-017-3590-y
PMCID:
PMC5478193
AbstractArticlePDF–454K
3.
Early-onset of ADCK4 glomerulopathy with renal failure: a case report
Ksenija Lolin, Benedetta D. Chiodini, Elise Hennaut, Brigitte Adams, Karin Dahan, Khalid Ismaili
BMC Med Genet. 2017; 18: 28. Published online 2017 Mar 16. doi: 10.1186/s12881-017-0392-9
PMCID:
PMC5353777
AbstractArticlePDF–544K
4.
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
5.
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report
Liru Qiu, Jianhua Zhou
BMC Pediatr. 2016; 16: 44. Published online 2016 Mar 22. doi: 10.1186/s12887-016-0583-0
PMCID:
PMC4802576
AbstractArticlePDF–1.4M
6.
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
AbstractArticle
7.
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
Gemma Bullich, Daniel Trujillano, Sheila Santín, Stephan Ossowski, Santiago Mendizábal, Gloria Fraga, Álvaro Madrid, Gema Ariceta, José Ballarín, Roser Torra, Xavier Estivill, Elisabet Ars
Eur J Hum Genet. 2015 Sep; 23(9): 1192–1199. Published online 2014 Nov 19. doi: 10.1038/ejhg.2014.252
PMCID:
PMC4538209
AbstractArticlePDF–444K
8.
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
9.
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
10.
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
AbstractArticlePDF–1.5M
11.
Urokinase Gene 3′-UTR T/C Polymorphism Is Associated with Malignancy and ESRD in Idiopathic Membranous Nephropathy
Cheng-Hsu Chen, Shih-Yin Chen, Kuo-Hsiung Shu, Mei-Chin Wen, Chi-Hung Cheng, Ming-Ju Wu, Tung-Min Yu, Ya-Wen Chuang, Fuu-Jen Tsai
Biomed Res Int. 2014; 2014: 425095. Published online 2014 Apr 14. doi: 10.1155/2014/425095
PMCID:
PMC4009112
AbstractArticlePDF–582K
12.
Nephrin and Podocin functions are highly conserved between the zebrafish pronephros and mammalian metanephros
YAYOI FUKUYO, TOMOMI NAKAMURA, EKATERINA BUBENSHCHIKOVA, REBECCA POWELL, TAKASHI TSUJI, RALF JANKNECHT, TOMOKO OBARA
Mol Med Rep. 2014 Feb; 9(2): 457–465. Published online 2013 Dec 6. doi: 10.3892/mmr.2013.1844
PMCID:
PMC3896505
AbstractArticlePDF–1.6M
13.
ADCK4 “reenergizes” nephrotic syndrome
Laura Malaga-Dieguez, Katalin Susztak
J Clin Invest. 2013 Dec 2; 123(12): 4996–4999. Published online 2013 Nov 25. doi: 10.1172/JCI73168
PMCID:
PMC3859427
AbstractArticlePDF–1.4M
14.
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
15.
A clinical study of canine collagen type III glomerulopathy
Runa Rørtveit, Anna Vigdís Eggertsdóttir, Ragnar Thomassen, Frode Lingaas, Johan Høgset Jansen
BMC Vet Res. 2013; 9: 218. Published online 2013 Oct 24. doi: 10.1186/1746-6148-9-218
PMCID:
PMC3826668
AbstractArticlePDF–1.0M
16.
Involvement of the Tubular ClC-Type Exchanger ClC-5 in Glomeruli of Human Proteinuric Nephropathies
Monica Ceol, Emilia Tiralongo, Hans J. Baelde, Daniela Vianello, Giovanni Betto, Annunziata Marangelli, Luciana Bonfante, Marialuisa Valente, Mila Della Barbera, Angela D’Angelo, Franca Anglani, Dorella Del Prete
PLoS One. 2012; 7(9): e45605. Published online 2012 Sep 24. doi: 10.1371/journal.pone.0045605
PMCID:
PMC3454393
AbstractArticlePDF–1.1M
17.
A Missense LAMB2 Mutation Causes Congenital Nephrotic Syndrome by Impairing Laminin Secretion
Ying Maggie Chen, Yamato Kikkawa, Jeffrey H. Miner
J Am Soc Nephrol. 2011 May; 22(5): 849–858. doi: 10.1681/ASN.2010060632
PMCID:
PMC3083307
AbstractArticle
18.
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
19.
Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function
Luis Vazquez Fonseca, Mara Doimo, Cristina Calderan, Maria Andrea Desbats, Manuel J. Acosta, Cristina Cerqua, Matteo Cassina, Shazia Ashraf, Friedhelm Hildebrandt, Geppo Sartori, Placido Navas, Eva Trevisson, Leonardo Salviati
Hum Mutat. 2018 Mar; 39(3): 406–414. Published online 2017 Dec 18. doi: 10.1002/humu.23376
PMCID:
PMC5838795
AbstractArticlePDF–1.0M
20.
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS
Tony Yao, Khalil Udwan, Rohan John, Akanchaya Rana, Amirreza Haghighi, Lizhen Xu, Saidah Hack, Heather N. Reich, Michelle Adrienne Hladunewich, Daniel C. Cattran, Andrew D. Paterson, York Pei, Moumita Barua
Clin J Am Soc Nephrol. 2019 Feb 7; 14(2): 213–223. Published online 2019 Jan 15. doi: 10.2215/CJN.08750718
PMCID:
PMC6390925
AbstractArticle

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