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Select item 49269771.

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

Abstract Article

Select item 46464642.

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

Abstract Article PDF–1.5M

Select item 46965663.

Podocyte-Specific Deletion of Yes-Associated Protein Causes FSGS and Progressive Renal Failure

Monica Schwartzman, Antoine Reginensi, Jenny S. Wong, John M. Basgen, Kristin Meliambro, Susanne B. Nicholas, Vivette D'Agati, Helen McNeill, Kirk N. Campbell

J Am Soc Nephrol. 2016 Jan; 27(1): 216–226. Published online 2015 May 26. doi: 10.1681/ASN.2014090916

PMCID:: PMC4696566

Abstract Article

Select item 46965794.

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

Abstract Article

Select item 47410485.

Association of APOL1 Genotype with Renal Histology among Black HIV-Positive Patients Undergoing Kidney Biopsy

Mohamed G. Atta, Michelle M. Estrella, Karl L. Skorecki, Jeffrey B. Kopp, Cheryl A. Winkler, Walter G. Wasser, Revital Shemer, Lorraine C. Racusen, Michael Kuperman, Matthew C. Foy, Gregory M. Lucas, Derek M. Fine

Clin J Am Soc Nephrol. 2016 Feb 5; 11(2): 262–270. Published online 2015 Dec 14. doi: 10.2215/CJN.07490715

PMCID:: PMC4741048

Abstract Article

Select item 47439096.

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

Abstract Article PDF–1.2M

Select item 47459907.

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

Abstract Article PDF–172K

Select item 47673588.

A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis

Haiyang Yu, Mykyta Artomov, Sebastian Brähler, M. Christine Stander, Ghaidan Shamsan, Matthew G. Sampson, J. Michael White, Matthias Kretzler, Jeffrey H. Miner, Sanjay Jain, Cheryl A. Winkler, Robi D. Mitra, Jeffrey B. Kopp, Mark J. Daly, Andrey S. Shaw

J Clin Invest. 2016 Mar 1; 126(3): 1067–1078. Published online 2016 Feb 22. doi: 10.1172/JCI82592

Correction in:: J Clin Invest. 2016 Apr 1; 126(4): 1603.

PMCID:: PMC4767358

Abstract Article PDF–1.4M

Select item 47703049.

Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ α-1) and profilin 2

Ruth Rollason, Matthew Wherlock, Jenny A. Heath, Kate J. Heesom, Moin A. Saleem, Gavin I. Welsh

Biosci Rep. 2016 Feb; 36(1): e00302. Prepublished online 2016 Jan 13. Published online 2016 Feb 29. doi: 10.1042/BSR20150252

PMCID:: PMC4770304

Abstract Article PDF–996K

Select item 477510010.

Testosterone and 17β-estradiol have opposite effects on podocyte apoptosis that precedes glomerulosclerosis in female estrogen receptor knockout mice

Sophie Doublier, Enrico Lupia, Paola Catanuto, Simone Periera-Simon, Xiaomei Xia, Ken Korach, Mariana Berho, Sharon J. Elliot, Michael Karl

Kidney Int. Author manuscript; available in PMC 2016 Mar 2.

Published in final edited form as: Kidney Int. 2011 Feb; 79(4): 404–413. Published online 2010 Oct 20. doi: 10.1038/ki.2010.398

PMCID:: PMC4775100

Abstract Article PDF–2.9M

Select item 480258311.

Glomerulopathy in patients with distal duplication of chromosome 6p

Augustina Jankauskienė, Magdalena Koczkowska, Anna Bjerre, Joanna Bernaciak, Franz Schaefer, Beata S. Lipska-Ziętkiewicz

BMC Nephrol. 2016; 17: 32. Published online 2016 Mar 21. doi: 10.1186/s12882-016-0246-2

Correction in:: BMC Nephrol. 2016; 17: 43.

PMCID:: PMC4802583

Abstract Article PDF–796K

Select item 486460912.

Inhibition of Hyperhomocysteinemia-Induced Inflammasome Activation and Glomerular Sclerosis by NLRP3 Gene Deletion

Min Xia, Sabena M. Conley, Guangbi Li, Pin-Lan Li, Krishna M. Boini

Cell Physiol Biochem. Author manuscript; available in PMC 2016 May 12.

Published in final edited form as: Cell Physiol Biochem. 2014; 34(3): 829–841. Published online 2014 Aug 20. doi: 10.1159/000363046

PMCID:: PMC4864609

Abstract Article PDF–1.7M

Select item 487596413.

Drug discovery in Focal and Segmental Glomerulosclerosis

Nick Pullen, Alessia Fornoni

Kidney Int. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Kidney Int. 2016 Jun; 89(6): 1211–1220. Published online 2016 Apr 23. doi: 10.1016/j.kint.2015.12.058

PMCID:: PMC4875964

Abstract Article PDF–897K

Select item 489779214.

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

Abstract Article PDF–3.5M

Select item 490307915.

Circulating and urinary microRNA profile in focal segmental glomerulosclerosis: a pilot study

Ali Ramezani, Joseph M. Devaney, Scott Cohen, Maria R. Wing, Richard Scott, Suzan Knoblach, Rishi Singhal, Lilian Howard, Jeffrey B. Kopp, Dominic S. Raj

Eur J Clin Invest. Author manuscript; available in PMC 2016 Jun 11.

Published in final edited form as: Eur J Clin Invest. 2015 Apr; 45(4): 394–404. doi: 10.1111/eci.12420

PMCID:: PMC4903079

Abstract Article PDF–1.3M

Select item 491375116.

p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

Ruya Ozelsancak, Bulent Uyar

Am J Case Rep. 2016; 17: 315–319. Published online 2016 May 9. doi: 10.12659/AJCR.897024

PMCID:: PMC4913751

Abstract Article PDF–801K

Select item 463999217.

MicroRNA-30 family members regulate calcium/calcineurin signaling in podocytes

Junnan Wu, Chunxia Zheng, Xiao Wang, Shifeng Yun, Yue Zhao, Lin Liu, Yuqiu Lu, Yuting Ye, Xiaodong Zhu, Changming Zhang, Shaolin Shi, Zhihong Liu

J Clin Invest. 2015 Nov 2; 125(11): 4091–4106. Published online 2015 Oct 5. doi: 10.1172/JCI81061

PMCID:: PMC4639992

Abstract Article PDF–7.6M

Select item 492802918.

Phenotypic heterogeneity in females with X-linked Alport syndrome

Samuel C. Allred, Karen E. Weck, Adil Gasim, Amy K. Mottl

Clin Nephrol. 2015 Nov; 84(5): 296–300. Published online 2015 Aug 7. doi: 10.5414/CN108561

PMCID:: PMC4928029

Abstract Article PDF–729K

Select item 500463919.

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS

Marc Riehle, Anja K. Büscher, Björn-Oliver Gohlke, Mario Kaßmann, Maria Kolatsi-Joannou, Jan H. Bräsen, Mato Nagel, Jan U. Becker, Paul Winyard, Peter F. Hoyer, Robert Preissner, Dietmar Krautwurst, Maik Gollasch, Stefanie Weber, Christian Harteneck

J Am Soc Nephrol. 2016 Sep; 27(9): 2771–2783. Published online 2016 Feb 18. doi: 10.1681/ASN.2015030318

PMCID:: PMC5004639

Abstract Article

Select item 501357620.

Collapsing glomerulopathy in a young woman with APOL1 risk alleles following acute parvovirus B19 infection: a case report investigation

Whitney Besse, Sherry Mansour, Karan Jatwani, Cynthia C. Nast, Ursula C. Brewster

BMC Nephrol. 2016; 17(1): 125. Published online 2016 Sep 6. doi: 10.1186/s12882-016-0330-7

PMCID:: PMC5013576

Abstract Article PDF–2.6M

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