-
1
-
-
80053410497
-
Arhgap24 inactivates rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis
-
Akilesh, S., Suleiman, H., Yu, H., Stander, M. C., Lavin, P. (2011) Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J. Clin. Invest. 121, 4127-4137.
-
(2011)
J. Clin. Invest
, vol.121
, pp. 4127-4137
-
-
Akilesh, S.1
Suleiman, H.2
Yu, H.3
Stander, M.C.4
Lavin, P.5
-
2
-
-
19944433699
-
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., Bisceglia, L. (2005) Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. Nephron Clin. Pract. 99, 31-36.
-
(2005)
Nephron Clin. Pract
, vol.99
, pp. 31-36
-
-
Aucella, F.1
De Bonis, P.2
Gatta, G.3
Bisceglia, L.4
-
3
-
-
0034034757
-
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
-
DOI 10.1038/74166
-
Boute, N., Gribouval, O., Roselli, S., Benessy, F., Antignac, C. (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 24, 349-354. (Pubitemid 30187431)
-
(2000)
Nature Genetics
, vol.24
, Issue.4
, pp. 349-354
-
-
Boute, N.1
Gribouval, O.2
Roselli, S.3
Benessy, F.4
Lee, H.5
Fuchshuber, A.6
Dahan, K.7
Gubler, M.-C.8
Niaudet, P.9
Antignac, C.10
-
4
-
-
0035199469
-
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis
-
Caridi, G., Bertelli, R., Carrea, A., Ghiggeri, G. M. (2001) Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J. Am. Soc. Nephrol. 12, 2742-2746. (Pubitemid 33115421)
-
(2001)
Journal of the American Society of Nephrology
, vol.12
, Issue.12
, pp. 2742-2746
-
-
Caridi, G.1
Bertelli, R.2
Carrea, A.3
Di Duca, M.4
Catarsi, P.5
Artero, M.6
Carraro, M.7
Zennaro, C.8
Candiano, G.9
Musante, L.10
Seri, M.11
Ginevri, F.12
Perfumo, F.13
Ghiggeri, G.M.14
-
5
-
-
0037792031
-
Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood [1]
-
Caridi, G., Bertelli, R., Scolari, F., Ghiggeri, G. M. (2003) Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood. Kidney Int. 64, 365. (Pubitemid 36714194)
-
(2003)
Kidney International
, vol.64
, Issue.1
, pp. 365
-
-
Caridi, G.1
Bertelli, R.2
Scolari, F.3
Sanna-Cherchi, S.4
Di Duca, M.5
Ghiggeri, G.M.6
-
6
-
-
69249231160
-
Clinical features and long term outcome of nephrotic syndrome associated with heterozygous nphs1 and nphs2 mutations
-
Caridi, G., Gigante, M., Ravani, P., Ghiggeri, G. M. (2009) Clinical features and long term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations. Clin. J. Am. Soc. Nephrol. 4, 1065-1072.
-
(2009)
Clin. J. Am. Soc. Nephrol
, vol.4
, pp. 1065-1072
-
-
Caridi, G.1
Gigante, M.2
Ravani, P.3
Ghiggeri, G.M.4
-
7
-
-
33748922778
-
Cis and trans regulatory elements in NPHS2 promoter: Implications in proteinuria and progression of renal diseases
-
DOI 10.1038/sj.ki.5001767, PII 5001767
-
DiDuca, M., Oleggini, R., Sanna-Cherchi, S., Ghiggeri, G. M. (2006) Cis and trans regulatory elements in NPHS2 promoter: Implications in proteinuria and progression of renal diseases. Kidney Int. 70, 1332-1341. (Pubitemid 44435186)
-
(2006)
Kidney International
, vol.70
, Issue.7
, pp. 1332-1341
-
-
Di Duca, M.1
Oleggini, R.2
Sanna-Cherchi, S.3
Pasquali, L.4
Di Donato, A.5
Parodi, S.6
Bertelli, R.7
Caridi, G.8
Frasca, G.9
Cerullo, G.10
Amoroso, A.11
Schena, F.P.12
Scolari, F.13
Ghiggeri, G.M.14
-
8
-
-
24944501391
-
Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease
-
DOI 10.1111/j.1523-1755.2005.00400.x, PII 4494583
-
Dusel, J. A., Burdon, K. P., Hicks, P. J., Freedman, B. I. (2005) Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease. Kidney Int. 68, 256-262. (Pubitemid 43181383)
-
(2005)
Kidney International
, vol.68
, Issue.1
, pp. 256-262
-
-
Engeler Dusel, J.A.1
Burdon, K.P.2
Hicks, P.J.3
Hawkins, G.A.4
Bowden, D.W.5
Freedman, B.I.6
-
9
-
-
33645403446
-
Nphs2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A huge review
-
Franceschini, N., North, K. E., Kopp, J. B., Winkler, C. (2006) NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review. Genet Med. 8, 63-75.
-
(2006)
Genet Med
, vol.8
, pp. 63-75
-
-
Franceschini, N.1
North, K.E.2
Kopp, J.B.3
Winkler, C.4
-
10
-
-
34547845601
-
Recessive nphs2 mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis
-
He, N., Zahirieh, A., Mei, Y., Pei, Y. (2007) Recessive NPHS2 mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin. J. Am. Soc. Nephrol. 2, 31-37.
-
(2007)
Clin. J. Am. Soc. Nephrol
, vol.2
, pp. 31-37
-
-
He, N.1
Zahirieh, A.2
Mei, Y.3
Pei, Y.4
-
11
-
-
39049163551
-
Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome
-
DOI 10.1681/ASN.2007040452
-
Hinkes, B., Vlangos, C., Heeringa, S., Hildebrandt, F. (2008) Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 19, 365-371. (Pubitemid 351240657)
-
(2008)
Journal of the American Society of Nephrology
, vol.19
, Issue.2
, pp. 365-371
-
-
Hinkes, B.1
Vlangos, C.2
Heeringa, S.3
Mucha, B.4
Gbadegesin, R.5
Liu, J.6
Hasselbacher, K.7
Ozaltin, F.8
Hildebrandt, F.9
Noyan, A.10
Bakkaloglu, A.11
Spranger, S.12
Briese, S.13
Muller, D.14
Querfeld, U.15
Reusz, G.16
Bogdanovic, R.17
Beck, B.18
Hoppe, B.19
Wolf, M.T.F.20
Dittrich, K.21
Dotsch, J.22
Plank, C.23
Ruth, E.-M.24
Rascher, W.25
Hoyer, P.26
Schroder, M.27
Brandis, M.28
Fuchshuber, A.29
Pohl, M.30
Von Schnakenburg, C.31
Mache, C.32
Schafer, F.33
Knuppel, T.34
Mehls, O.35
Tonshoff, B.36
Wenning, D.37
Kemper, M.38
Muller-Wiefel, D.E.39
Ehrich, J.H.H.40
Offner, G.41
Barenbrock, M.42
Jungraithmayr, T.43
Zimmerhackl, B.44
Misselwitz, J.45
Wygoda, S.46
Bockenhauer, D.47
Schuhmacher, M.48
Benz, M.49
Griebel, M.50
Hofele, J.51
Weber, L.52
Fehrenbach, H.53
Bulla, M.54
Kuwertz-Brocking, E.55
Schulze Everding, A.56
Shenoy, M.57
Patzer, L.58
Seeman, T.59
Gianviti, A.60
Rizzoni, G.61
Amon, O.62
Licht, C.63
Muhleder, J.64
Laube, G.65
Neuhaus, T.66
Stuckert, T.67
more..
-
12
-
-
0036151614
-
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome
-
Karle, S. M., Uetz, B., Ronner, V., Fuchshuber, A. (2002) Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 13, 388-393. (Pubitemid 34106280)
-
(2002)
Journal of the American Society of Nephrology
, vol.13
, Issue.2
, pp. 388-393
-
-
Karle, S.M.1
Uetz, B.2
Ronner, V.3
Glaeser, L.4
Hildebrandt, F.5
Fuchshuber, A.6
-
13
-
-
0036435919
-
Treatment of primary focal segmental glomerulosclerosis
-
DOI 10.1046/j.1523-1755.2002.00674.x
-
Korbet, S. M. (2002) Treatment of primary focal segmental glomerulosclerosis. Kidney Int. 62, 2301-2310. (Pubitemid 35366191)
-
(2002)
Kidney International
, vol.62
, Issue.6
, pp. 2301-2310
-
-
Korbet, S.M.1
-
14
-
-
62349123713
-
Clinical and epidemiological assessment of steroidresistant nephrotic syndrome associated with the nphs2 r229q variant
-
Machuca, E., Hummel, A., Nevo, F., Dantal, J., Antignac, C. (2009) Clinical and epidemiological assessment of steroidresistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int. 75, 727-735.
-
(2009)
Kidney Int
, vol.75
, pp. 727-735
-
-
Machuca, E.1
Hummel, A.2
Nevo, F.3
Dantal, J.4
Antignac, C.5
-
15
-
-
35848939398
-
NPHS2 variation in sporadic focal segmental glomerulosclerosis
-
DOI 10.1681/ASN.2007030319
-
McKenzie, L. M., Hendrickson, S. L., Briggs, W. A., Winkler, C. A. (2007) NPHS2 variation in sporadic focal segmental glomerulosclerosis. J. Am. Soc. Nephrol. 18, 2987-2995. (Pubitemid 350058406)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.11
, pp. 2987-2995
-
-
McKenzie, L.M.1
Hendrickson, S.L.2
Briggs, W.A.3
Dart, R.A.4
Korbet, S.M.5
Mokrzycki, M.H.6
Kimmel, P.L.7
Ahuja, T.S.8
Berns, J.S.9
Simon, E.E.10
Smith, M.C.11
Trachtman, H.12
Michel, D.M.13
Schelling, J.R.14
Cho, M.15
Zhou, Y.C.16
Binns-Roemer, E.17
Kirk, G.D.18
Kopp, J.B.19
Winkler, C.A.20
more..
-
16
-
-
79960877647
-
Myo1e mutations and childhood familial focal segmental glomerulosclerosis
-
PodoNet Consortium.
-
Mele, C., Iatropoulos, P., Donadelli, R., Calabria, A., Maranta, R., Cassis, P., Buelli, S., Tomasoni, S., Piras, R., Krendel, M., Bettoni, S., Morigi, M., Delledonne, M., Pecoraro, C., Abbate, I., Capobianchi. M. R., Hildebrandt, F., Otto, E., Schaefer, F., Macciardi, F., Ozaltin, F., Emre, S., Ibsirlioglu, T., Benigni, A., Remuzzi, G., Noris, M., PodoNet Consortium (2011) MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N. Engl. J. Med. 365, 295-306.
-
(2011)
N. Engl. J. Med
, vol.365
, pp. 295-306
-
-
Mele, C.1
Iatropoulos, P.2
Donadelli, R.3
Calabria, A.4
Maranta, R.5
Cassis, P.6
Buelli, S.7
Tomasoni, S.8
Piras, R.9
Krendel, M.10
Bettoni, S.11
Morigi, M.12
Delledonne, M.13
Pecoraro, C.14
Abbate, I.15
Capobianchi, M.R.16
Hildebrandt, F.17
Otto, E.18
Schaefer, F.19
Macciardi, F.20
Ozaltin, F.21
Emre, S.22
Ibsirlioglu, T.23
Benigni, A.24
Remuzzi, G.25
Noris, M.26
more..
-
17
-
-
33749077324
-
NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis
-
Monteiro, E. J., Pereira, A. C., Pereira, A. B., Mastroianni-Kirsztajn, G. (2006) NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis. J. Nephrol. 19, 366-371. (Pubitemid 46785551)
-
(2006)
Journal of Nephrology
, vol.19
, Issue.3
, pp. 366-371
-
-
Monteiro, E.J.B.1
Pereira, A.C.2
Pereira, A.B.3
Krieger, J.E.4
Mastroianni-Kirsztajn, G.5
-
18
-
-
80051544854
-
Disruption of ptpro causes childhood-onset nephrotic syndrome
-
PodoNet Consortium10
-
Ozaltin, F., Ibsirlioglu, T., Taskiran, E. Z., Baydar, D. E., Kaymaz, F., Buyukcelik, M., Kilic, B. D., Balat, A., Iatropoulos, P., Asan, E., Akarsu, N. A., Schaefer, F.,Yilmaz, E., Bakkaloglu, A., PodoNet Consortium10 (2011) Disruption of PTPRO causes childhood-onset nephrotic syndrome. Am. J. Hum. Genet. 89, 139-147.
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 139-147
-
-
Ozaltin, F.1
Ibsirlioglu, T.2
Taskiran, E.Z.3
Baydar, D.E.4
Kaymaz, F.5
Buyukcelik, M.6
Kilic, B.D.7
Balat, A.8
Iatropoulos, P.9
Asan, E.10
Akarsu, N.A.11
Schaefer F.Yilmaz, E.12
Bakkaloglu, A.13
-
19
-
-
1342281104
-
NPHS2 R229Q functional variant is associated with microalbuminuria in the general population
-
DOI 10.1111/j.1523-1755.2004.00479.x
-
Pereira, A. C., Pereira, A. B., Mota, G. F., Krieger, J. E. (2004) NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. Kidney Int. 65, 1026-1030. (Pubitemid 38258280)
-
(2004)
Kidney International
, vol.65
, Issue.3
, pp. 1026-1030
-
-
Pereira, A.C.1
Pereira, A.B.2
Mota, G.F.3
Cunha, R.S.4
Herkenhoff, F.L.5
Pollak, M.R.6
Mill, J.G.7
Krieger, J.E.8
-
20
-
-
10744226566
-
Patients with Mutations in NPHS2 (Podocin) Do Not Respond to Standard Steroid Treatment of Nephrotic Syndrome
-
DOI 10.1097/01.ASN.0000113552.59155.72
-
Ruf, R. G., Lichtenberger, A., Karle, S. M., Hildebrandt, F. (2004) Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment on nephrotic syndrome. J. Am. Soc. Nephrol. 15, 722-732. (Pubitemid 38294803)
-
(2004)
Journal of the American Society of Nephrology
, vol.15
, Issue.3
, pp. 722-732
-
-
Ruf, R.G.1
Lichtenberger, A.2
Karle, S.M.3
Haas, J.P.4
Anacleto, F.E.5
Schultheiss, M.6
Zalewski, I.7
Imm, A.8
Ruf, E.-M.9
Mucha, B.10
Bagga, A.11
Neuhaus, T.12
Fuchshuber, A.13
Bakkaloglu, A.14
Hildebrandt, F.15
-
21
-
-
79951873276
-
Clinical value of nphs2 analysis in early-and adult-onset steroidresistant nephrotic syndrome
-
Santín, S., Tazón-Vega, B., Silva, I., Ars, E. (2011) Clinical value of NPHS2 analysis in early-and adult-onset steroidresistant nephrotic syndrome. Clin. J. Am. Soc. Nephrol. 6, 344-354.
-
(2011)
Clin. J. Am. Soc. Nephrol
, vol.6
, pp. 344-354
-
-
Santín, S.1
Tazón-Vega, B.2
Silva, I.3
Ars, E.4
-
22
-
-
54049118382
-
Nphs2 variation in focal and segmental glomerulosclerosis
-
Tonna, S. J., Needham, A., Polu, K., Pollak, M. R. (2008) NPHS2 variation in focal and segmental glomerulosclerosis. BMC Nephrol. 9, 13.
-
(2008)
BMC Nephrol
, vol.9
, pp. 13
-
-
Tonna, S.J.1
Needham, A.2
Polu, K.3
Pollak, M.R.4
-
23
-
-
0036897388
-
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele
-
DOI 10.1172/JCI200216242
-
Tsukaguchi, H., Sudhakar, A., Le, T. C. (2002) NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J. Clin. Invest. 110, 1659-1666. (Pubitemid 35424244)
-
(2002)
Journal of Clinical Investigation
, vol.110
, Issue.11
, pp. 1659-1666
-
-
Tsukaguchi, H.1
Sudhakar, A.2
Le, T.C.3
Nguyen, T.4
Yao, J.5
Schwimmer, J.A.6
Schachter, A.D.7
Poch, E.8
Abreu, P.F.9
Appel, G.B.10
Pereira, A.B.11
Kalluri, R.12
Pollak, M.R.13
-
24
-
-
3242795082
-
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence
-
DOI 10.1111/j.1523-1755.2004.00776.x
-
Weber, S., Gribouval, O., Esquivel, E. L. (2004) NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int. 66, 571-579. (Pubitemid 38981997)
-
(2004)
Kidney International
, vol.66
, Issue.2
, pp. 571-579
-
-
Weber, S.1
Gribouval, O.2
Esquivel, E.L.3
Moriniere, V.4
Tete, M.-J.5
Legendre, C.6
Niaudet, P.7
Antignac, C.8
-
25
-
-
18944383337
-
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children
-
DOI 10.1093/ndt/gfh769
-
Yu, Z., Ding, J., Huang, J., Yang, J. (2005) Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome. Nephrol. Dial. Transplant. 20, 902-908. (Pubitemid 40704025)
-
(2005)
Nephrology Dialysis Transplantation
, vol.20
, Issue.5
, pp. 902-908
-
-
Yu, Z.1
Ding, J.2
Huang, J.3
Yao, Y.4
Xiao, H.5
Zhang, J.6
Liu, J.7
Yang, J.8
-
26
-
-
4344615537
-
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation
-
DOI 10.1111/j.1523-1755.2004.00840.x
-
Zhang, S. Y., Marlier, A., Gribouval, O. (2004) In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutations. Kidney Int. 66, 945-954. (Pubitemid 39120996)
-
(2004)
Kidney International
, vol.66
, Issue.3
, pp. 945-954
-
-
Zhang, S.-Y.1
Marlier, A.2
Gribouval, O.3
Gilbert, T.4
Heidet, L.5
Antignac, C.6
Gubler, M.C.7
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