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Items: 1 to 20 of 128

1.

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

Tsukaguchi H, Sudhakar A, Le TC, Nguyen T, Yao J, Schwimmer JA, Schachter AD, Poch E, Abreu PF, Appel GB, Pereira AB, Kalluri R, Pollak MR.

J Clin Invest. 2002 Dec;110(11):1659-66.

2.

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

Santín S, Tazón-Vega B, Silva I, Cobo MÁ, Giménez I, Ruíz P, García-Maset R, Ballarín J, Torra R, Ars E; FSGS Spanish Study Group.

Clin J Am Soc Nephrol. 2011 Feb;6(2):344-54. doi: 10.2215/CJN.03770410. Epub 2010 Oct 14.

3.

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

He N, Zahirieh A, Mei Y, Lee B, Senthilnathan S, Wong B, Mucha B, Hildebrandt F, Cole DE, Cattran D, Pei Y.

Clin J Am Soc Nephrol. 2007 Jan;2(1):31-7. Epub 2006 Oct 25.

4.

NPHS2 variation in focal and segmental glomerulosclerosis.

Tonna SJ, Needham A, Polu K, Uscinski A, Appel GB, Falk RJ, Katz A, Al-Waheeb S, Kaplan BS, Jerums G, Savige J, Harmon J, Zhang K, Curhan GC, Pollak MR.

BMC Nephrol. 2008 Sep 29;9:13. doi: 10.1186/1471-2369-9-13.

5.

Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.

Aucella F, De Bonis P, Gatta G, Muscarella LA, Vigilante M, di Giorgio G, D'Errico M, Zelante L, Stallone C, Bisceglia L.

Nephron Clin Pract. 2005;99(2):c31-6. Epub 2004 Dec 21.

PMID:
15627790
6.

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.

Franceschini N, North KE, Kopp JB, McKenzie L, Winkler C.

Genet Med. 2006 Feb;8(2):63-75. Review.

PMID:
16481888
7.

The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.

Lu L, Wan H, Yin Y, Feng WJ, Wang M, Zou YC, Huang B, Wang DT, Shi Y, Zhao Y, Wei LB.

Int Urol Nephrol. 2014 Jul;46(7):1383-93. doi: 10.1007/s11255-014-0676-3. Epub 2014 Apr 9.

PMID:
24715228
8.

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

Kerti A, Csohány R, Wagner L, Jávorszky E, Maka E, Tory K.

Pediatr Nephrol. 2013 Oct;28(10):2061-4. doi: 10.1007/s00467-013-2542-4. Epub 2013 Jun 26.

PMID:
23800802
9.

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.

Machuca E, Hummel A, Nevo F, Dantal J, Martinez F, Al-Sabban E, Baudouin V, Abel L, Grünfeld JP, Antignac C.

Kidney Int. 2009 Apr;75(7):727-35. doi: 10.1038/ki.2008.650. Epub 2009 Jan 14.

10.

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

Stefanou C, Pieri M, Savva I, Georgiou G, Pierides A, Voskarides K, Deltas C.

Nephron. 2015;130(3):200-12. doi: 10.1159/000432406. Epub 2015 Jun 26.

PMID:
26138234
11.

Genetic basis of nephrotic syndrome--review.

Obeidová H, Merta M, Reiterová J, Maixnerová D, Stekrová J, Rysavá R, Tesar V.

Prague Med Rep. 2006;107(1):5-16. Review.

PMID:
16752799
12.

Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.

Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM.

J Am Soc Nephrol. 2001 Dec;12(12):2742-6.

13.

R229Q polymorphism of NPHS2 gene in patients with late-onset steroid-resistance nephrotic syndrome: a preliminary study.

Fotouhi N, Ardalan M, Jabbarpour Bonyadi M, Abdolmohammadi R, Kamalifar A, Nasri H, Einollahi B.

Iran J Kidney Dis. 2013 Sep;7(5):399-403.

14.

Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.

Laurin LP, Lu M, Mottl AK, Blyth ER, Poulton CJ, Weck KE.

Nephrol Dial Transplant. 2014 Nov;29(11):2062-9. doi: 10.1093/ndt/gft532. Epub 2014 Feb 4.

PMID:
24500309
15.

NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis.

Monteiro EJ, Pereira AC, Pereira AB, Krieger JE, Mastroianni-Kirsztajn G.

J Nephrol. 2006 May-Jun;19(3):366-71.

PMID:
16874699
16.

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

Büscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S.

Clin Nephrol. 2012 Jul;78(1):47-53.

PMID:
22732337
17.

NPHS2 variation in sporadic focal segmental glomerulosclerosis.

McKenzie LM, Hendrickson SL, Briggs WA, Dart RA, Korbet SM, Mokrzycki MH, Kimmel PL, Ahuja TS, Berns JS, Simon EE, Smith MC, Trachtman H, Michel DM, Schelling JR, Cho M, Zhou YC, Binns-Roemer E, Kirk GD, Kopp JB, Winkler CA.

J Am Soc Nephrol. 2007 Nov;18(11):2987-95. Epub 2007 Oct 17.

18.

Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.

Reiterová J, Safránková H, Obeidová L, Stěkrová J, Maixnerová D, Merta M, Tesař V.

Folia Biol (Praha). 2012;58(2):64-8.

19.

Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

Löwik M, Levtchenko E, Westra D, Groenen P, Steenbergen E, Weening J, Lilien M, Monnens L, van den Heuvel L.

Nephrol Dial Transplant. 2008 Oct;23(10):3146-51. doi: 10.1093/ndt/gfn208. Epub 2008 Apr 28.

PMID:
18443213
20.

The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.

Mikó Á, K Menyhárd D, Kaposi A, Antignac C, Tory K.

Hum Mutat. 2018 Dec;39(12):1854-1860. doi: 10.1002/humu.23660. Epub 2018 Oct 22. Review.

PMID:
30260545

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