PMC Articles for MedGen (Select 889806) - PMC

Agnes Trautmann, Monica Bodria, Fatih Ozaltin, Alaleh Gheisari, Anette Melk, Marta Azocar, Ali Anarat, Salim Caliskan, Francesco Emma, Jutta Gellermann, Jun Oh, Esra Baskin, Joanna Ksiazek, Giuseppe Remuzzi, Ozlem Erdogan, Sema Akman, Jiri Dusek, Tinatin Davitaia, Ozan Özkaya, Fotios Papachristou, Agnieszka Firszt-Adamczyk, Tomasz Urasinski, Sara Testa, Rafael T. Krmar, Lidia Hyla-Klekot, Andrea Pasini, Z. Birsin Özcakar, Peter Sallay, Nilgun Cakar, Monica Galanti, Joelle Terzic, Bilal Aoun, Alberto Caldas Afonso, Hanna Szymanik-Grzelak, Beata S. Lipska, Sven Schnaidt, Franz Schaefer

Clin J Am Soc Nephrol. 2015 Apr 7; 10(4): 592–600. Published online 2015 Jan 29. doi: 10.2215/CJN.06260614

PMCID:: PMC4386250

Abstract Article

Select item 44468774.

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

Select item 44835795.

HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome

Rasheed A. Gbadegesin, Adebowale Adeyemo, Nicholas J.A. Webb, Larry A. Greenbaum, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arundhati Kale, Debbie Gipson, Tarak Srivastava, Jen-Jar Lin, Deepa Chand, Tracy E. Hunley, Patrick D. Brophy, Arvind Bagga, Aditi Sinha, Michelle N. Rheault, Joanna Ghali, Kathy Nicholls, Elizabeth Abraham, Halima S. Janjua, Abiodun Omoloja, Gina-Marie Barletta, Yi Cai, David D. Milford, Catherine O'Brien, Atif Awan, Vladimir Belostotsky, William E. Smoyer, Alison Homstad, Gentzon Hall, Guanghong Wu, Shashi Nagaraj, Delbert Wigfall, John Foreman, Michelle P. Winn, Members of the Mid-West Pediatric Nephrology Consortium

J Am Soc Nephrol. 2015 Jul; 26(7): 1701–1710. Published online 2014 Oct 27. doi: 10.1681/ASN.2014030247

PMCID:: PMC4483579

Abstract Article

Select item 45382096.

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

Abstract Article PDF–444K

Select item 45506127.

Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka

Shanika Nanayakkara, STMLD Senevirathna, Nipuna B. Parahitiyawa, Tilak Abeysekera, Rohana Chandrajith, Neelakanthi Ratnatunga, Toshiaki Hitomi, Hatasu Kobayashi, Kouji H. Harada, Akio Koizumi

Environ Health Prev Med. 2015 Sep; 20(5): 354–359. Published online 2015 Jun 25. doi: 10.1007/s12199-015-0475-1

PMCID:: PMC4550612

Abstract Article PDF–507K

Select item 46436208.

GeneVetter: a web tool for quantitative monogenic assessment of rare diseases

Christopher E. Gillies, Catherine C. Robertson, Matthew G. Sampson, Hyun Min Kang

Bioinformatics. 2015 Nov 15; 31(22): 3682–3684. Published online 2015 Jul 23. doi: 10.1093/bioinformatics/btv432

PMCID:: PMC4643620

Abstract Article PDF–112K

Select item 46630509.

Race, Relationship and Renal Diagnoses after Living Kidney Donation

Krista L. Lentine, Mark A. Schnitzler, Amit X. Garg, Huiling Xiao, David Axelrod, Janet E. Tuttle-Newhall, Daniel C. Brennan, Dorry L. Segev

Transplantation. Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: Transplantation. 2015 Aug; 99(8): 1723–1729. doi: 10.1097/TP.0000000000000733

PMCID:: PMC4663050

Abstract Article PDF–336K

Select item 476919310.

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects

Matthew G. Sampson, Catherine C. Robertson, Sebastian Martini, Laura H. Mariani, Kevin V. Lemley, Christopher E. Gillies, Edgar A. Otto, Jeffrey B. Kopp, Anne Randolph, Virginia Vega-Warner, Felix Eichinger, Viji Nair, Debbie S. Gipson, Daniel C. Cattran, Duncan B. Johnstone, John F. O’Toole, Serena M. Bagnasco, Peter X. Song, Laura Barisoni, Jonathan P. Troost, Matthias Kretzler, John R. Sedor, the Nephrotic Syndrome Study Network

J Am Soc Nephrol. 2016 Mar; 27(3): 814–823. Published online 2015 Jul 6. doi: 10.1681/ASN.2014111131

PMCID:: PMC4769193

Abstract Article

Select item 492697711.

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 411821212.

Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing

Elizabeth J. Brown, Martin R. Pollak, Moumita Barua

Kidney Int. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Kidney Int. 2014 May; 85(5): 1030–1038. Published online 2014 Mar 5. doi: 10.1038/ki.2014.48

PMCID:: PMC4118212

Abstract Article PDF–132K

Select item 520248213.

Exome Sequencing Frequently Reveals the Cause of Early-Onset Chronic Kidney Disease

Asaf Vivante, Friedhelm Hildebrandt

Nat Rev Nephrol. Author manuscript; available in PMC 2016 Dec 31.

Published in final edited form as: Nat Rev Nephrol. 2016 Mar; 12(3): 133–146. Published online 2016 Jan 11. doi: 10.1038/nrneph.2015.205

PMCID:: PMC5202482

Abstract Article PDF–735K

Select item 522345514.

Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting

Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan, Anil Vasudevan

BMC Med Genet. 2017; 18: 3. Published online 2017 Jan 10. doi: 10.1186/s12881-016-0362-7

PMCID:: PMC5223455

Abstract Article PDF–4.1M

Select item 527680115.

GENETICS OF CHILDHOOD STEROID SENSITIVE NEPHROTIC SYNDROME (SSNS)

Alana M. Karp, Rasheed A. Gbadegesin

Pediatr Nephrol. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Pediatr Nephrol. 2017 Sep; 32(9): 1481–1488. Published online 2016 Jul 29. doi: 10.1007/s00467-016-3456-8

PMCID:: PMC5276801

Abstract Article PDF–623K

Select item 533870516.

Focal Segmental Glomerulosclerosis

Avi Z. Rosenberg, Jeffrey B. Kopp

Clin J Am Soc Nephrol. 2017 Mar 7; 12(3): 502–517. Published online 2017 Feb 27. doi: 10.2215/CJN.05960616

Correction in:: Clin J Am Soc Nephrol. 2018 Dec 7; 13(12): 1889.

PMCID:: PMC5338705

Abstract Article

Select item 547819317.

Spectrum of mutations in steroid-resistant nephrotic syndrome in Chinese children

Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhuwen Yi, Li Yu, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Dr. Jie Ding, Dr. Friedhelm Hildebrandt

Pediatr Nephrol. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: Pediatr Nephrol. 2017 Jul; 32(7): 1181–1192. Published online 2017 Feb 15. doi: 10.1007/s00467-017-3590-y

PMCID:: PMC5478193

Abstract Article PDF–454K

Select item 549547818.

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 574890719.

Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex–Mediated Membranoproliferative GN

Paraskevas Iatropoulos, Erica Daina, Manuela Curreri, Rossella Piras, Elisabetta Valoti, Caterina Mele, Elena Bresin, Sara Gamba, Marta Alberti, Matteo Breno, Annalisa Perna, Serena Bettoni, Ettore Sabadini, Luisa Murer, Marina Vivarelli, Marina Noris, Giuseppe Remuzzi

J Am Soc Nephrol. 2018 Jan; 29(1): 283–294. Published online 2017 Oct 13. doi: 10.1681/ASN.2017030258

PMCID:: PMC5748907

Abstract Article

Select item 575228620.

Elevated urinary CRELD2 is associated with endoplasmic reticulum stress–mediated kidney disease

Yeawon Kim, Sun-Ji Park, Scott R. Manson, Carlos A.F. Molina, Kendrah Kidd, Heather Thiessen-Philbrook, Rebecca J. Perry, Helen Liapis, Stanislav Kmoch, Chirag R. Parikh, Anthony J. Bleyer, Ying Maggie Chen

JCI Insight. 2017 Dec 7; 2(23): e92896. Published online 2017 Dec 7. doi: 10.1172/jci.insight.92896

PMCID:: PMC5752286

Abstract Article PDF–14M

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