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Items: 1 to 20 of 229

1.
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
2.
A Novel Splice Site Mutation in SMARCAL1 Results in Aberrant Exon Definition in a Child with Schimke Immunoosseous Dysplasia
Clinton Carroll, Tracy E. Hunley, Yan Guo, David Cortez
Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Am J Med Genet A. 2015 Oct; 0(10): 2260–2264. Published online 2015 May 5. doi: 10.1002/ajmg.a.37146
PMCID:
PMC4743909
AbstractArticlePDF–1.2M
3.
MiR-30a Inhibits the Epithelial—Mesenchymal Transition of Podocytes through Downregulation of NFATc3
Rui Peng, Li Zhou, Yuru Zhou, Ya Zhao, Qianyin Li, Dongsheng Ni, Yanxia Hu, Yaoshui Long, Jianing Liu, Zhongshi Lyu, Zhaomin Mao, Yue Yuan, Liyuan Huang, Hui Zhao, Ge Li, Qin Zhou
Int J Mol Sci. 2015 Oct; 16(10): 24032–24047. Published online 2015 Oct 12. doi: 10.3390/ijms161024032
PMCID:
PMC4632736
AbstractArticlePDF–2.9M
4.
Re-sequencing of the APOL1-APOL4 and MYH9 gene regions in African Americans does not identify additional risks for CKD progression
Gregory A. Hawkins, David J. Friedman, Lingyi Lu, David R. McWilliams, Jeff W. Chou, Satria Sajuthi, Jasmin Divers, Rulan Parekh, Man Li, Giulio Genovese, Martin R. Pollak, Pamela J. Hicks, Donald W. Bowden, Lijun Ma, Barry I. Freedman, Carl D. Langefeld
Am J Nephrol. Author manuscript; available in PMC 2016 Sep 8.
Published in final edited form as: Am J Nephrol. 2015; 42(2): 99–106. Published online 2015 Sep 8. doi: 10.1159/000439448
PMCID:
PMC4589514
AbstractArticlePDF–216K
5.
APOL1 kidney disease risk variants – an evolving landscape
Patrick D. Dummer, Sophie Limou, Avi Z. Rosenberg, Jurgen Heymann, George Nelson, Cheryl A. Winkler, Jeffrey B. Kopp
Semin Nephrol. Author manuscript; available in PMC 2016 May 1.
Published in final edited form as: Semin Nephrol. 2015 May; 35(3): 222–236. doi: 10.1016/j.semnephrol.2015.04.008
PMCID:
PMC4562465
AbstractArticlePDF–1.1M
6.
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
7.
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
8.
miR-135 family members mediate podocyte injury through the activation of Wnt/β-catenin signaling
XIANGGUI YANG, XIAOYAN WANG, FANG NIE, TIANMING LIU, XUEJING YU, HONGLIAN WANG, QIANYIN LI, RUI PENG, ZHAOMIN MAO, QIN ZHOU, GE LI
Int J Mol Med. 2015 Sep; 36(3): 669–677. Published online 2015 Jun 24. doi: 10.3892/ijmm.2015.2259
PMCID:
PMC4533775
AbstractArticlePDF–1.4M
9.
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
10.
Focal segmental glomerulosclerosis: molecular genetics and targeted therapies
Ying Maggie Chen, Helen Liapis
BMC Nephrol. 2015; 16: 101. Published online 2015 Jul 9. doi: 10.1186/s12882-015-0090-9
PMCID:
PMC4496884
AbstractArticlePDF–1.1M
11.
Krüppel-like factor 6 regulates mitochondrial function in the kidney
Sandeep K. Mallipattu, Sylvia J. Horne, Vivette D’Agati, Goutham Narla, Ruijie Liu, Michael A. Frohman, Kathleen Dickman, Edward Y. Chen, Avi Ma’ayan, Agnieszka B. Bialkowska, Amr M. Ghaleb, Mandayam O. Nandan, Mukesh K. Jain, Ilse Daehn, Peter Y. Chuang, Vincent W. Yang, John C. He
J Clin Invest. 2015 Mar 2; 125(3): 1347–1361. Published online 2015 Feb 17. doi: 10.1172/JCI77084
PMCID:
PMC4362257
AbstractArticlePDF–7.4M
12.
A reassessment of soluble urokinase-type plasminogen activator receptor in glomerular disease
Joann M. Spinale, Laura H. Mariani, Shiv Kapoor, Jidong Zhang, Robert Weyant, Peter X. Song, Hetty N. Wong, Jonathan P. Troost, Crystal A. Gadegbeku, Debbie S. Gipson, Matthias Kretzler, Deepak Nihalani, Lawrence B. Holzman, the Investigators of the Nephrotic Syndrome Study Network
Kidney Int. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Kidney Int. 2015 Mar; 87(3): 564–574. Published online 2014 Oct 29. doi: 10.1038/ki.2014.346
PMCID:
PMC4344842
AbstractArticlePDF–720K
13.
Innate immunity pathways regulate the nephropathy gene Apolipoprotein L1
Brendan Nichols, Prachi Jog, Jessica Lee, Daniel Blackler, Michael Wilmot, Vivette D’Agati, Glen Markowitz, Jeffrey Kopp, Seth L. Alper, Martin R. Pollak, David J. Friedman
Kidney Int. Author manuscript; available in PMC 2015 Aug 1.
Published in final edited form as: Kidney Int. 2015 Feb; 87(2): 332–342. Published online 2014 Aug 6. doi: 10.1038/ki.2014.270
PMCID:
PMC4312530
AbstractArticlePDF–3.4M
14.
Opportunities and challenges of genotyping of patients with nephrotic syndrome in the genomic era
Matthew G. Sampson, Martin R. Pollak
Semin Nephrol. Author manuscript; available in PMC 2016 May 1.
Published in final edited form as: Semin Nephrol. 2015 May; 35(3): 212–221. doi: 10.1016/j.semnephrol.2015.04.002
PMCID:
PMC4745990
AbstractArticlePDF–172K
15.
Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease
Fujun Lin, Fan Bian, Jun Zou, Xiangru Wu, Jianping Shan, Wei Lu, Yao Yao, Gengru Jiang, Daniel Philip Gale
BMC Nephrol. 2014; 15: 175. Published online 2014 Nov 7. doi: 10.1186/1471-2369-15-175
PMCID:
PMC4233041
AbstractArticlePDF–1.3M
16.
Rethinking hypertensive kidney disease: arterionephrosclerosis as a genetic, metabolic, and inflammatory disorder
Jeffrey B. Kopp
Curr Opin Nephrol Hypertens. Author manuscript; available in PMC 2014 Sep 16.
Published in final edited form as: Curr Opin Nephrol Hypertens. 2013 May; 22(3): 266–272. doi: 10.1097/MNH.0b013e3283600f8c
PMCID:
PMC4165431
AbstractArticlePDF–91K
17.
APOL1 Kidney Risk Alleles: Population Genetics and Disease Associations
Sophie Limou, George W. Nelson, Jeffrey B. Kopp, Cheryl A. Winkler
Adv Chronic Kidney Dis. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Adv Chronic Kidney Dis. 2014 Sep; 21(5): 426–433. doi: 10.1053/j.ackd.2014.06.005
PMCID:
PMC4157456
AbstractArticlePDF–281K
18.
Angiotensin II has acute effects on TRPC6 channels in podocytes of freshly isolated glomeruli
Daria V. Ilatovskaya, Oleg Palygin, Vladislav Chubinskiy-Nadezhdin, Yuri A. Negulyaev, Rong Ma, Lutz Birnbaumer, Alexander Staruschenko
Kidney Int. Author manuscript; available in PMC 2015 Mar 1.
Published in final edited form as: Kidney Int. 2014 Sep; 86(3): 506–514. Published online 2014 Mar 19. doi: 10.1038/ki.2014.71
PMCID:
PMC4149864
AbstractArticlePDF–2.6M
19.
APOL1 risk variants enhance podocyte necrosis through compromising lysosomal membrane permeability
Xiqian Lan, Aakash Jhaveri, Kang Cheng, Hongxiu Wen, Moin A. Saleem, Peter W. Mathieson, Joanna Mikulak, Sharon Aviram, Ashwani Malhotra, Karl Skorecki, Pravin C. Singhal
Am J Physiol Renal Physiol. 2014 Aug 1; 307(3): F326–F336. Published online 2014 Jun 4. doi: 10.1152/ajprenal.00647.2013
PMCID:
PMC4121568
AbstractArticle
20.
NPHS2 Variation in Sporadic Focal Segmental Glomerulosclerosis
Louise M. McKenzie, Sher L. Hendrickson, William A. Briggs, Richard A. Dart, Stephen M. Korbet, Michelle H. Mokrzycki, Paul L. Kimmel, Tejinder S. Ahuja, Jeffrey S. Berns, Eric E. Simon, Michael C. Smith, Howard Trachtman, Donna M. Michel, Jeffrey R. Schelling, Monique Cho, Yu C. Zhou, Elizabeth Binns-Roemer, Gregory D. Kirk, Jeffrey B. Kopp, Cheryl A. Winkler
J Am Soc Nephrol. Author manuscript; available in PMC 2014 Jul 15.
Published in final edited form as: J Am Soc Nephrol. 2007 Nov; 18(11): 2987–2995. Published online 2007 Oct 17. doi: 10.1681/ASN.2007030319
PMCID:
PMC4096868
AbstractArticlePDF–1.2M

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