PMC Links for Nucleotide (Select 219802195) - PMC

Select item 69746041.

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families

Yanqin Zhang, Jie Ding, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Xiaoyu Liu, Ke Xu, Fang Wang

Eur J Hum Genet. 2020 Feb; 28(2): 244–252. Published online 2019 Oct 1. doi: 10.1038/s41431-019-0523-1

PMCID:: PMC6974604

Select item 47410472.

Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid–Resistant Nephrotic Syndrome

Anja K. Büscher, Bodo B. Beck, Anette Melk, Julia Hoefele, Birgitta Kranz, Daniel Bamborschke, Sabrina Baig, Bärbel Lange-Sperandio, Theresa Jungraithmayr, Lutz T. Weber, Markus J. Kemper, Burkhard Tönshoff, Peter F. Hoyer, Martin Konrad, Stefanie Weber

Clin J Am Soc Nephrol. 2016 Feb 5; 11(2): 245–253. Published online 2015 Dec 14. doi: 10.2215/CJN.07370715

PMCID:: PMC4741047

Abstract Article

Select item 45382093.

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 44745574.

Identification of a Novel C-Terminal Truncated WT1 Isoform with Antagonistic Effects against Major WT1 Isoforms

Naoya Tatsumi, Nozomi Hojo, Hiroyuki Sakamoto, Rena Inaba, Nahoko Moriguchi, Keiko Matsuno, Mari Fukuda, Akihide Matsumura, Seiji Hayashi, Soyoko Morimoto, Jun Nakata, Fumihiro Fujiki, Sumiyuki Nishida, Hiroko Nakajima, Akihiro Tsuboi, Yoshihiro Oka, Naoki Hosen, Haruo Sugiyama, Yusuke Oji

PLoS One. 2015; 10(6): e0130578. Published online 2015 Jun 19. doi: 10.1371/journal.pone.0130578

PMCID:: PMC4474557

Abstract Article PDF–4.2M

Select item 43738055.

APOBEC3A Is Implicated in a Novel Class of G-to-A mRNA Editing in WT1 Transcripts

Ahmadreza Niavarani, Erin Currie, Yasmin Reyal, Fernando Anjos-Afonso, Stuart Horswell, Emmanuel Griessinger, Jose Luis Sardina, Dominique Bonnet

PLoS One. 2015; 10(3): e0120089. Published online 2015 Mar 25. doi: 10.1371/journal.pone.0120089

PMCID:: PMC4373805

Abstract Article PDF–1.2M

Select item 43339576.

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

Abstract Article PDF–82K

Select item 36699307.

Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation

Pietro Dattolo, Marco Allinovi, Paraskevas Iatropoulos, Stefano Michelassi

BMJ Case Rep. 2013; 2013: bcr2013009543. Published online 2013 May 27. doi: 10.1136/bcr-2013-009543

PMCID:: PMC3669930

Abstract Article PDF–81K

Select item 33972578.

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021

PMCID:: PMC3397257

Abstract Article PDF–506K

Select item 30017739.

Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome

Anja K. Büscher, Birgitta Kranz, Rainer Büscher, Friedhelm Hildebrandt, Bernd Dworniczak, Petra Pennekamp, Eberhard Kuwertz-Bröking, Anne-Margret Wingen, Ulrike John, Markus Kemper, Leo Monnens, Peter F. Hoyer, Stefanie Weber, Martin Konrad

Clin J Am Soc Nephrol. 2010 Nov; 5(11): 2075–2084. doi: 10.2215/CJN.01190210

PMCID:: PMC3001773

Abstract Article

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