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Items: 1 to 20 of 108

1.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
Robert N. Jinks, Erik G. Puffenberger, Emma Baple, Brian Harding, Peter Crino, Agnes B. Fogo, Olivia Wenger, Baozhong Xin, Alanna E. Koehler, Madeleine H. McGlincy, Margaret M. Provencher, Jeffrey D. Smith, Linh Tran, Saeed Al Turki, Barry A. Chioza, Harold Cross, Gaurav V. Harlalka, Matthew E. Hurles, Reza Maroofian, Adam D. Heaps, Mary C. Morton, Lisa Stempak, Friedhelm Hildebrandt, Carolin E. Sadowski, Joshua Zaritsky, Kenneth Campellone, D. Holmes Morton, Heng Wang, Andrew Crosby, Kevin A. Strauss
Brain. 2015 Aug; 138(8): 2173–2190. Published online 2015 Jun 12. doi: 10.1093/brain/awv153
PMCID:
PMC4511861
AbstractArticlePDF–2.2M
2.
Invariant Natural Killer T Cell Agonist Modulates Experimental Focal and Segmental Glomerulosclerosis
Rafael L. Pereira, Vanessa O. Reis, Patricia Semedo, Bruna N. Buscariollo, Cassiano Donizetti-Oliveira, Marcos A. Cenedeze, Maria Fernanda Soares, Alvaro Pacheco-Silva, Paul B. Savage, Niels O. S. Câmara, Alexandre C. Keller
PLoS One. 2012; 7(3): e32454. Published online 2012 Mar 12. doi: 10.1371/journal.pone.0032454
PMCID:
PMC3299669
AbstractArticlePDF–1.2M
3.
Primary Cultures of Glomerular Parietal Epithelial Cells or Podocytes with Proven Origin
Nazanin Kabgani, Tamara Grigoleit, Kevin Schulte, Antonio Sechi, Sibille Sauer-Lehnen, Carmen Tag, Peter Boor, Christoph Kuppe, Gregor Warsow, Sandra Schordan, Jörg Mostertz, Ravi Kumar Chilukoti, Georg Homuth, Nicole Endlich, Frank Tacke, Ralf Weiskirchen, Georg Fuellen, Karlhans Endlich, Jürgen Floege, Bart Smeets, Marcus J. Moeller
PLoS One. 2012; 7(4): e34907. Published online 2012 Apr 18. doi: 10.1371/journal.pone.0034907
PMCID:
PMC3329559
AbstractArticlePDF–1.3M
4.
APOL1 Null Alleles from a Rural Village in India Do Not Correlate with Glomerulosclerosis
Duncan B. Johnstone, Vijay Shegokar, Deepak Nihalani, Yogendra Singh Rathore, Leena Mallik, Ashish, Vasant Zare, H. Omer Ikizler, Rajaram Powar, Lawrence B. Holzman
PLoS One. 2012; 7(12): e51546. Published online 2012 Dec 26. doi: 10.1371/journal.pone.0051546
PMCID:
PMC3530541
AbstractArticlePDF–827K
5.
The direction and role of phenotypic transition between podocytes and parietal epithelial cells in focal segmental glomerulosclerosis
Kazuo Sakamoto, Toshiharu Ueno, Namiko Kobayashi, Satoshi Hara, Yasutoshi Takashima, Ira Pastan, Taiji Matsusaka, Michio Nagata
Am J Physiol Renal Physiol. 2014 Jan 1; 306(1): F98–F104. Published online 2013 Oct 23. doi: 10.1152/ajprenal.00228.2013
PMCID:
PMC3921819
AbstractArticle
6.
Balance between the two kinin receptors in the progression of experimental focal and segmental glomerulosclerosis in mice
Rafael Luiz Pereira, Raphael José Ferreira Felizardo, Marcos Antônio Cenedeze, Meire Ioshie Hiyane, Ênio José Bassi, Mariane Tami Amano, Clarice Sylvia Taemi Origassa, Reinaldo Correia Silva, Cristhiane Fávero Aguiar, Sylvia Mendes Carneiro, João Bosco Pesquero, Ronaldo Carvalho Araújo, Alexandre de Castro Keller, Renato C. Monteiro, Ivan Cruz Moura, Alvaro Pacheco-Silva, Niels Olsen Saraiva Câmara
Dis Model Mech. 2014 Jun; 7(6): 701–710. Published online 2014 Apr 17. doi: 10.1242/dmm.014548
PMCID:
PMC4036477
AbstractArticle
7.
TRPC6 Single Nucleotide Polymorphisms and Progression of Idiopathic Membranous Nephropathy
Julia M. Hofstra, Marieke J. H. Coenen, Mascha M. V. A. P. Schijvenaars, Jo H. M. Berden, Johan van der Vlag, Lies H. Hoefsloot, Nine V. A. M. Knoers, Jack F. M. Wetzels, Tom Nijenhuis
PLoS One. 2014; 9(7): e102065. Published online 2014 Jul 14. doi: 10.1371/journal.pone.0102065
PMCID:
PMC4096511
AbstractArticlePDF–418K
8.
Typical Renal-coloboma Syndrome Phenotype in a Patient with a Submicroscopic Deletion of the PAX2 Gene
Kucinskas Laimutis, Craig Jackson, Xinjie Xu, Berta Warman, Rudaitis Sarunas, Pundziene Birute, Lisa A. Schimmenti, Gordana Raca
Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 15.
Published in final edited form as: Am J Med Genet A. 2012 Jun; 0(6): 1437–1441. Published online 2012 May 11. doi: 10.1002/ajmg.a.35342
PMCID:
PMC4098919
AbstractArticlePDF–832K
9.
Mutations in PAX2 Associate with Adult-Onset FSGS
Moumita Barua, Emilia Stellacci, Lorenzo Stella, Astrid Weins, Giulio Genovese, Valentina Muto, Viviana Caputo, Hakan R. Toka, Victoria T. Charoonratana, Marco Tartaglia, Martin R. Pollak
J Am Soc Nephrol. 2014 Sep; 25(9): 1942–1953. Published online 2014 Mar 27. doi: 10.1681/ASN.2013070686
PMCID:
PMC4147972
AbstractArticle
10.
Nephron Hypertrophy and Glomerulosclerosis and Their Association with Kidney Function and Risk Factors among Living Kidney Donors
Hisham E. Elsherbiny, Mariam P. Alexander, Walter K. Kremers, Walter D. Park, Emilio D. Poggio, Mikel Prieto, John C. Lieske, Andrew D. Rule
Clin J Am Soc Nephrol. 2014 Nov 7; 9(11): 1892–1902. Published online 2014 Oct 15. doi: 10.2215/CJN.02560314
PMCID:
PMC4220756
AbstractArticle
11.
MDR1 Polymorphisms and Idiopathic Nephrotic Syndrome in Slovak Children: Preliminary Results
Martina Cizmarikova, Ludmila Podracka, Lucia Klimcakova, Viera Habalova, Andrej Boor, Jan Mojzis, Ladislav Mirossay
Med Sci Monit. 2015; 21: 59–68. Published online 2015 Jan 6. doi: 10.12659/MSM.891366
PMCID:
PMC4294597
AbstractArticlePDF–507K
12.
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis – a single-centre experience
Agnieszka Bińczak-Kuleta, Jacek Rubik, Mieczysław Litwin, Małgorzata Ryder, Klaudyna Lewandowska, Olga Taryma-Leśniak, Jeremy S. Clark, Ryszard Grenda, Andrzej Ciechanowicz
Bosn J Basic Med Sci. 2014 May; 14(2): 89–93. doi: 10.17305/bjbms.2014.2270
PMCID:
PMC4333957
AbstractArticlePDF–82K
13.
Lipid biology of the podocyte—new perspectives offer new opportunities
Alessia Fornoni, Sandra Merscher, Jeffrey B. Kopp
Nat Rev Nephrol. Author manuscript; available in PMC 2015 Apr 6.
Published in final edited form as: Nat Rev Nephrol. 2014 Jul; 10(7): 379–388. Published online 2014 May 27. doi: 10.1038/nrneph.2014.87
PMCID:
PMC4386893
AbstractArticlePDF–1.1M
14.
Population-Based Risk Assessment of APOL1 on Renal Disease
David J. Friedman, Julia Kozlitina, Giulio Genovese, Prachi Jog, Martin R. Pollak
J Am Soc Nephrol. 2011 Nov; 22(11): 2098–2105. doi: 10.1681/ASN.2011050519
PMCID:
PMC3231785
AbstractArticle
15.
Sequencing rare and common APOL1 coding variants to determine kidney disease risk
Sophie Limou, George W Nelson, Laurence Lecordier, Ping An, Colm S O’hUigin, Victor A David, Elizabeth A Binns-Roemer, Wilfried M Guiblet, Taras K Oleksyk, Etienne Pays, Jeffrey B Kopp, Cheryl A Winkler
Kidney Int. Author manuscript; available in PMC 2016 Apr 1.
Published in final edited form as: Kidney Int. 2015 Oct; 88(4): 754–763. Published online 2015 May 20. doi: 10.1038/ki.2015.151
PMCID:
PMC4591109
AbstractArticlePDF–1.5M
16.
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors
Gaia Roversi, Chiara Picinelli, Ilaria Bestetti, Milena Crippa, Daniela Perotti, Sara Ciceri, Fabiana Saccheri, Paola Collini, Pietro L. Poliani, Serena Catania, Bernard Peissel, Fabio Pagni, Silvia Russo, Paolo Peterlongo, Siranoush Manoukian, Palma Finelli
Sci Rep. 2015; 5: 15454. Published online 2015 Oct 20. doi: 10.1038/srep15454
PMCID:
PMC4612309
AbstractArticlePDF–643K
17.
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome
Toshiya Okumura, Kengo Furuichi, Tomomi Higashide, Mayumi Sakurai, Shin-ichi Hashimoto, Yasuyuki Shinozaki, Akinori Hara, Yasunori Iwata, Norihiko Sakai, Kazuhisa Sugiyama, Shuichi Kaneko, Takashi Wada
PLoS One. 2015; 10(11): e0142843. Published online 2015 Nov 16. doi: 10.1371/journal.pone.0142843
PMCID:
PMC4646464
AbstractArticlePDF–1.5M
18.
MC1R is dispensable for the proteinuria reducing and glomerular protective effect of melanocortin therapy
Yingjin Qiao, Anna-Lena Berg, Pei Wang, Yan Ge, Songxia Quan, Sijie Zhou, Hai Wang, Zhangsuo Liu, Rujun Gong
Sci Rep. 2016; 6: 27589. Published online 2016 Jun 8. doi: 10.1038/srep27589
Correction in:
Sci Rep. 2020; 10: 15608.
PMCID:
PMC4897792
AbstractArticlePDF–3.5M
19.
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort
Matthew G. Sampson, Christopher E. Gillies, Catherine C. Robertson, Brendan Crawford, Virginia Vega-Warner, Edgar A. Otto, Matthias Kretzler, Hyun Min Kang
J Am Soc Nephrol. 2016 Jul; 27(7): 1970–1983. Published online 2015 Nov 3. doi: 10.1681/ASN.2015050504
PMCID:
PMC4926977
AbstractArticle
20.
Dysregulation of WTI (−KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation
Gentzon Hall, Brandon Lane, Megan Chryst-Ladd, Guanghong Wu, Jen-Jar Lin, XueJun Qin, Elizabeth R. Hauser, Rasheed Gbadegesin
Sci Rep. 2017; 7: 39933. Published online 2017 Jan 6. doi: 10.1038/srep39933
PMCID:
PMC5216339
AbstractArticlePDF–703K

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