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Items: 1 to 20 of 51

1.
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families
Dalia Pantel, Nils D. Mertens, Ronen Schneider, Selina Hölzel, Jameela A. Kari, Sherif El Desoky, Mohamed A. Shalaby, Tze Y. Lim, Simone Sanna-Cherchi, Shirlee Shril, Friedhelm Hildebrandt
Pediatr Nephrol. Author manuscript; available in PMC 2024 Mar 29.
Published in final edited form as: Pediatr Nephrol. 2024 Feb; 39(2): 455–461. Published online 2023 Sep 5. doi: 10.1007/s00467-023-06134-2
PMCID:
PMC10979458
AbstractArticlePDF–827K
2.
Analysis of the association of NPHS2 and ACTN4 genes polymorphism with nephrotic syndrome in Egyptian children
Mohammed F. al-azzawy, Mohammad Al-Haggar, Afaf M. ElSaid, Omali Y. El-khawaga
Mol Biol Rep. 2023; 50(5): 4481–4490. Published online 2023 Apr 4. doi: 10.1007/s11033-023-08387-4
PMCID:
PMC10147774
AbstractArticlePDF–827K
3.
Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking
Aude Dorison, Irene Ghobrial, Alison Graham, Thanushi Peiris, Thomas A. Forbes, Michael See, Mithun Das, Moin A. Saleem, Catherine Quinlan, Kynan T. Lawlor, Mirana Ramialison, Sara E. Howden, Melissa H. Little
J Am Soc Nephrol. 2023 Jan; 34(1): 88–109. Published online 2022 Sep 27. doi: 10.1681/ASN.2022060707
PMCID:
PMC10101587
AbstractArticle
4.
NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation
Liping Sun, Xinzhou Zhang, Zhen Wang
Biosci Rep. 2021 Jan 29; 41(1): BSR20203248. Published online 2021 Jan 5. doi: 10.1042/BSR20203248
PMCID:
PMC7786326
AbstractArticlePDF–636K
5.
Detection of Podocin in Human Urine Sediment Samples by Charge Derivatization and LC-MS-MRM Method
Remigiusz Bąchor, Dorota Gąszczyk, Karolina Panek-Laszczyńska, Andrzej Konieczny, Wojciech Witkiewicz, Piotr Stefanowicz, Zbigniew Szewczuk
Int J Mol Sci. 2020 May; 21(9): 3225. Published online 2020 May 2. doi: 10.3390/ijms21093225
PMCID:
PMC7247335
AbstractArticlePDF–1.5M
6.
The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis
Melanie A. Govender, June Fabian, Errol Gottlich, Cecil Levy, Glenda Moonsamy, Heather Maher, Cheryl A. Winkler, Michèle Ramsay
Commun Biol. 2019; 2: 416. Published online 2019 Nov 15. doi: 10.1038/s42003-019-0658-1
PMCID:
PMC6858321
AbstractArticlePDF–701K
7.
Podocin and uPAR are good biomarkers in cases of Focal and segmental glomerulosclerosis in pediatric renal biopsies
Lívia Helena de Morais Pereira, Crislaine Aparecida da Silva, Maria Luíza Gonçalves dos Reis Monteiro, Liliane Silvano Araújo, Laura Penna Rocha, Marcelo Bernardes da Rocha Reis, Fernando Silva Ramalho, Rosana Rosa Miranda Corrêa, Marcos Vinicius Silva, Marlene Antonia Reis, Juliana Reis Machado
PLoS One. 2019; 14(6): e0217569. Published online 2019 Jun 12. doi: 10.1371/journal.pone.0217569
PMCID:
PMC6561567
AbstractArticlePDF–1.2M
8.
Non-collagen genes role in digenic Alport syndrome
S. Daga, C. Fallerini, S. Furini, C. Pecoraro, F. Scolari, F. Ariani, M. Bruttini, M. A. Mencarelli, F. Mari, A. Renieri, A. M. Pinto
BMC Nephrol. 2019; 20: 70. Published online 2019 Feb 26. doi: 10.1186/s12882-019-1258-5
PMCID:
PMC6391820
AbstractArticlePDF–712K
9.
Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis
Jenny Frese, Matthias Kettwig, Hildegard Zappel, Johannes Hofer, Hermann-Josef Gröne, Mato Nagel, Gere Sunder-Plassmann, Renate Kain, Jörg Neuweiler, Oliver Gross
Int J Mol Sci. 2019 Feb; 20(3): 519. Published online 2019 Jan 26. doi: 10.3390/ijms20030519
PMCID:
PMC6386959
AbstractArticlePDF–1.7M
10.
The transcriptional regulation of Podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism
Sigrid Harendza, Rolf A.K. Stahl, André Schneider
Cell Mol Biol Lett. 2009 Dec; 14(4): 679–691. Published online 2009 Jun 27. doi: 10.2478/s11658-009-0026-0
PMCID:
PMC6275688
SummaryPDF–2.5M
11.
Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome
Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari, Anil Vasudevan
BMC Med Genet. 2018; 19: 200. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0714-6
PMCID:
PMC6245897
AbstractArticlePDF–710K
12.
Steroid-resistant nephrotic syndrome: impact of genetic testing
Jameela A. Kari, Sherif M. El-Desoky, Mamdooh Gari, Khalid Malik, Virginia Vega-Warner, Svjetlana Lovric, Detlef Bockenhauer
Ann Saudi Med. 2013 Nov-Dec; 33(6): 533–538. doi: 10.5144/0256-4947.2013.533
PMCID:
PMC6074900
AbstractArticlePDF–209K
13.
Rare Functional Variants of Podocin (NPHS2) Promoter in Patients With Nephrotic Syndrome
Roberta Oleggini, Roberta Bertelli, Armando Di Donato, Marco Di Duca, Gianluca Caridi, Simone Sanna-Cherchi, Francesco Scolari, Luisa Murer, Landino Allegri, Rosanna Coppo, Francesco Emma, Giovanni Camussi, Francesco Perfumo, Gian Marco Ghiggeri
Gene Expr. 2006; 13(1): 59–66. Published online 2018 Jul 5. doi: 10.3727/000000006783991926
PMCID:
PMC6032451
AbstractArticlePDF–208K
14.
Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome
Gil Chernin, Saskia F. Heeringa, Rasheed Gbadegesin, Jinhong Liu, Bernward G. Hinkes, Christopher N. Vlangos, Virginia Vega-Warner, Friedhelm Hildebrandt
Pediatr Nephrol. Author manuscript; available in PMC 2017 Jul 3.
Published in final edited form as: Pediatr Nephrol. 2008 Sep; 23(9): 1455–1460. Published online 2008 Jun 10. doi: 10.1007/s00467-008-0861-7
PMCID:
PMC5495478
AbstractArticlePDF–72K
15.
Sorting Nexin 9 facilitates podocin endocytosis in the injured podocyte
Yu Sasaki, Teruo Hidaka, Takashi Ueno, Miyuki Akiba-Takagi, Juan Alejandro Oliva Trejo, Takuto Seki, Yoshiko Nagai-Hosoe, Eriko Tanaka, Satoshi Horikoshi, Yasuhiko Tomino, Yusuke Suzuki, Katsuhiko Asanuma
Sci Rep. 2017; 7: 43921. Published online 2017 Mar 7. doi: 10.1038/srep43921
PMCID:
PMC5339724
AbstractArticlePDF–1.9M
16.
Expansion of phenotype and genotypic data in CRB2-related syndrome
Ryan E Lamont, Wen-Hann Tan, A Micheil Innes, Jillian S Parboosingh, Dina Schneidman-Duhovny, Aleksandar Rajkovic, John Pappas, Pablo Altschwager, Stephanie DeWard, Anne Fulton, Kathryn J Gray, Max Krall, Lakshmi Mehta, Lance H Rodan, Devereux N Saller, Jr, Deanna Steele, Deborah Stein, Svetlana A Yatsenko, François P Bernier, Anne M Slavotinek
Eur J Hum Genet. 2016 Oct; 24(10): 1436–1444. Published online 2016 Mar 23. doi: 10.1038/ejhg.2016.24
PMCID:
PMC5027675
AbstractArticlePDF–541K
17.
The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes
Markus M. Rinschen, Puneet Bharill, Xiongwu Wu, Priyanka Kohli, Matthäus J. Reinert, Oliver Kretz, Isabel Saez, Bernhard Schermer, Martin Höhne, Malte P. Bartram, Sriram Aravamudhan, Bernard R. Brooks, David Vilchez, Tobias B. Huber, Roman-Ulrich Müller, Marcus Krüger, Thomas Benzing
Hum Mol Genet. 2016 Apr 1; 25(7): 1328–1344. Published online 2016 Jan 19. doi: 10.1093/hmg/ddw016
PMCID:
PMC4787903
AbstractArticlePDF–1.0M
18.
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
AbstractArticlePDF–1008K
19.
Podocin is translocated to cytoplasm in puromycin aminonucleoside nephrosis rats and in poor-prognosis patients with IgA nephropathy
Hiromitsu Fukuda, Teruo Hidaka, Miyuki Takagi-Akiba, Koichiro Ichimura, Juan Alejandro Oliva Trejo, Yu Sasaki, Juan Wang, Tatsuo Sakai, Katsuhiko Asanuma, Yasuhiko Tomino
Cell Tissue Res. 2015; 360(2): 391–400. Published online 2015 Feb 13. doi: 10.1007/s00441-014-2100-9
PMCID:
PMC4544490
AbstractArticlePDF–11M
20.
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
AbstractArticle

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