PMC Links for GEO Profiles (Select 94292109) - PMC

Links from GEO Profiles

Items: 1 to 20 of 51

<< First< Prev

Page of 3

Select item 109794581.

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

Abstract Article PDF–827K

Select item 101477742.

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

Abstract Article PDF–827K

Select item 101015873.

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

Abstract Article

Select item 77863264.

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

Abstract Article PDF–636K

Select item 72473355.

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

Abstract Article PDF–1.5M

Select item 68583216.

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

Abstract Article PDF–701K

Select item 65615677.

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

Abstract Article PDF–1.2M

Select item 63918208.

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

Abstract Article PDF–712K

Select item 63869599.

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

Abstract Article PDF–1.7M

Select item 627568810.

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

Summary PDF–2.5M

Select item 624589711.

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

Abstract Article PDF–710K

Select item 607490012.

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

Abstract Article PDF–209K

Select item 603245113.

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

Abstract Article PDF–208K

Select item 549547814.

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

Abstract Article PDF–72K

Select item 533972415.

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

Abstract Article PDF–1.9M

Select item 502767516.

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

Abstract Article PDF–541K

Select item 478790317.

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

Abstract Article PDF–1.0M

Select item 458907318.

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 454449019.

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

Abstract Article PDF–11M

Select item 444687720.

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

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 1 to 20 of 51

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity