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Results: 1 to 20 of 121

1.

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K.

Mol Cell. 1998 Mar;1(4):575-82.

PMID:
9660941
[PubMed - indexed for MEDLINE]
Free Article
2.

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.

Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Homberg C, Olsen A, Kestilä M, Tryggvason K.

Am J Hum Genet. 1999 Jan;64(1):51-61.

PMID:
9915943
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.

Patrakka J, Kestilä M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Männikkö M, Visapää I, Holmberg C, Rapola J, Tryggvason K, Jalanko H.

Kidney Int. 2000 Sep;58(3):972-80.

PMID:
10972661
[PubMed - indexed for MEDLINE]
Free Article
4.

Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.

Aya K, Tanaka H, Seino Y.

Kidney Int. 2000 Feb;57(2):401-4.

PMID:
10652016
[PubMed - indexed for MEDLINE]
Free Article
5.

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Beltcheva O, Martin P, Lenkkeri U, Tryggvason K.

Hum Mutat. 2001 May;17(5):368-73.

PMID:
11317351
[PubMed - indexed for MEDLINE]
6.

Recurrence of nephrotic syndrome in kidney grafts of patients with congenital nephrotic syndrome of the Finnish type: role of nephrin.

Patrakka J, Ruotsalainen V, Reponen P, Qvist E, Laine J, Holmberg C, Tryggvason K, Jalanko H.

Transplantation. 2002 Feb 15;73(3):394-403.

PMID:
11884936
[PubMed - indexed for MEDLINE]
7.

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P.

Hum Mol Genet. 2002 Feb 15;11(4):379-88.

PMID:
11854170
[PubMed - indexed for MEDLINE]
Free Article
8.

Filtrin is a novel member of nephrin-like proteins.

Ihalmo P, Palmén T, Ahola H, Valtonen E, Holthöfer H.

Biochem Biophys Res Commun. 2003 Jan 10;300(2):364-70.

PMID:
12504092
[PubMed - indexed for MEDLINE]
9.

Molecular cloning and characterization of an endogenous antisense transcript of Nphs1.

Ihalmo P, Rinta-Valkama J, Mai P, Aström E, Palmén T, Pham TT, Floss T, Holthöfer H.

Genomics. 2004 Jun;83(6):1134-40.

PMID:
15177566
[PubMed - indexed for MEDLINE]
10.

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

Liu L, Doné SC, Khoshnoodi J, Bertorello A, Wartiovaara J, Berggren PO, Tryggvason K.

Hum Mol Genet. 2001 Nov 1;10(23):2637-44.

PMID:
11726550
[PubMed - indexed for MEDLINE]
Free Article
11.

Discovery of the congenital nephrotic syndrome gene discloses the structure of the mysterious molecular sieve of the kidney.

Tryggvason K, Ruotsalainen V, Wartiovaara J.

Int J Dev Biol. 1999;43(5):445-51. Review.

PMID:
10535322
[PubMed - indexed for MEDLINE]
Free Article
12.

Genetic kidney diseases disclose the pathogenesis of proteinuria.

Jalanko H, Patrakka J, Tryggvason K, Holmberg C.

Ann Med. 2001 Nov;33(8):526-33. Review.

PMID:
11730159
[PubMed - indexed for MEDLINE]
13.

Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.

Gigante M, Monno F, Roberto R, Laforgia N, Assael MB, Livolti S, Caringella A, La Manna A, Masella L, Iolascon A.

J Nephrol. 2002 Nov-Dec;15(6):696-702.

PMID:
12495287
[PubMed - indexed for MEDLINE]
14.

Glomerular sclerosis in kidneys with congenital nephrotic syndrome (NPHS1).

Kuusniemi AM, Merenmies J, Lahdenkari AT, Holmberg C, Salmela K, Karikoski R, Rapola J, Jalanko H.

Kidney Int. 2006 Oct;70(8):1423-31. Epub 2006 Aug 30.

PMID:
16941028
[PubMed - indexed for MEDLINE]
15.

Molecular basis of steroid-resistant nephrotic syndrome.

Antignac C.

Nefrologia. 2005;25 Suppl 2:25-8.

PMID:
16050398
[PubMed - indexed for MEDLINE]
16.

Glomerular expression of nephrin is decreased in acquired human nephrotic syndrome.

Furness PN, Hall LL, Shaw JA, Pringle JH.

Nephrol Dial Transplant. 1999 May;14(5):1234-7.

PMID:
10344367
[PubMed - indexed for MEDLINE]
Free Article
17.

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C.

Nat Genet. 2000 Apr;24(4):349-54. Erratum in: Nat Genet 2000 May;25(1):125.

PMID:
10742096
[PubMed - indexed for MEDLINE]
18.

Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.

Sako M, Nakanishi K, Obana M, Yata N, Hoshii S, Takahashi S, Wada N, Takahashi Y, Kaku Y, Satomura K, Ikeda M, Honda M, Iijima K, Yoshikawa N.

Kidney Int. 2005 Apr;67(4):1248-55.

PMID:
15780077
[PubMed - indexed for MEDLINE]
19.

Glomerular endothelium in kidneys with congenital nephrotic syndrome of the Finnish type (NPHS1).

Kaukinen A, Kuusniemi AM, Lautenschlager I, Jalanko H.

Nephrol Dial Transplant. 2008 Apr;23(4):1224-32. Epub 2007 Nov 29.

PMID:
18048423
[PubMed - indexed for MEDLINE]
Free Article
20.

Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Kuusniemi AM, Qvist E, Sun Y, Patrakka J, Rönnholm K, Karikoski R, Jalanko H.

Transplantation. 2007 May 27;83(10):1316-23.

PMID:
17519780
[PubMed - indexed for MEDLINE]

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