1 |
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.
6
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Guaragna MS...De Mello MP
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24161391 |
2013 |
2 |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
6
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Lipska BS...PodoNet Consortium
|
23515051 |
2013 |
3 |
WT1 gene mutations in Chinese children with early onset nephrotic syndrome.
6
|
Li J...Xiao H
|
20442690 |
2010 |
4 |
Single gene disorders.
6
|
|
19484379 |
2008 |
5 |
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
6
|
Klamt B...Gessler M
|
9499425 |
1998 |
6 |
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
6
|
Barbaux S...McElreavey K
|
9398852 |
1997 |
7 |
Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report.
61
|
Zhao B...Cui JJ
|
33578576 |
2021 |
8 |
Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4.
61
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Chen X...Zhou G
|
33033902 |
2020 |
9 |
[State-of-the-art research of mice models of hereditary nephrotic syndrome].
61
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Xu C...Yu ZH
|
32872720 |
2020 |
10 |
B cell phenotype in pediatric idiopathic nephrotic syndrome.
61
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Colucci M...Vivarelli M
|
30267238 |
2019 |
11 |
Steroid-resistant nephrotic syndrome caused by co-inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings.
61
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Zhang H...Xiao H
|
29259860 |
2017 |
12 |
A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q10 Supplementation.
61
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Zhu JY...Han Z
|
28428331 |
2017 |
13 |
Genetics of hereditary nephrotic syndrome: a clinical review.
61
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Ha TS
|
28392820 |
2017 |
14 |
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
61
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Nakata T...Tamagaki K
|
28335748 |
2017 |
15 |
An inducible mouse model of podocin-mutation-related nephrotic syndrome.
61
|
Tabatabaeifar M...Schaefer F
|
29049388 |
2017 |
16 |
Quantitative deep mapping of the cultured podocyte proteome uncovers shifts in proteostatic mechanisms during differentiation.
61
|
Rinschen MM...Brinkkoetter PT
|
27357545 |
2016 |
17 |
The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes.
61
|
Rinschen MM...Benzing T
|
26792178 |
2016 |
18 |
Cytomegalovirus infection can mimic genetic nephrotic syndrome: a case report.
61
|
Hogan J...Niel O
|
26395882 |
2015 |
19 |
Translating genetic findings in hereditary nephrotic syndrome: the missing loops.
61
|
Hall G...Gbadegesin RA
|
25810439 |
2015 |
20 |
[The strategies of genetic diagnosis for hereditary nephrotic syndrome].
61
|
Qiu H...Yu Z
|
25224246 |
2014 |
21 |
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.
61
|
Lu L...Wei LB
|
24715228 |
2014 |
22 |
Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.
61
|
Bull KR...Cornall RJ
|
24293254 |
2014 |
23 |
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
61
|
Lipska BS...Limon J
|
23645318 |
2013 |
24 |
A novel domain regulating degradation of the glomerular slit diaphragm protein podocin in cell culture systems.
61
|
Godel M...Huber TB
|
23437316 |
2013 |
25 |
Gene expression analysis detected a low expression level of C1s gene in ICR-derived glomerulonephritis (ICGN) mice.
61
|
Tamura K...Miyamae Y
|
23989031 |
2013 |
26 |
[Recurrent prosthetic endocarditis in a 21-year old patient with renal transplantation treated with allogeneic homograft].
61
|
Sabol F...Spatenka J
|
22913243 |
2012 |
27 |
The struggle for energy in podocytes leads to nephrotic syndrome.
61
|
Yan K...Takenaka H
|
22433955 |
2012 |
28 |
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.
61
|
Benoit G...Antignac C
|
20333530 |
2010 |
29 |
Scratching behavior of ICR-derived glomerulonephritis (ICGN) mice.
61
|
Miyamoto Y...Okano K
|
20453449 |
2010 |
30 |
Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier.
61
|
Zenker M...Antignac C
|
19649571 |
2009 |
31 |
Localization of tissue transglutaminase (tTG) in kidney of ICR-derived glomerulonephritis (ICGN) mice.
61
|
Miyamoto Y...Manabe N
|
19654435 |
2009 |
32 |
beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity.
61
|
Quack I...Sellin L
|
16968782 |
2006 |
33 |
Transforming growth factor-beta1 mediated up-regulation of lysyl oxidase in the kidneys of hereditary nephrotic mouse with chronic renal fibrosis.
61
|
Goto Y...Manabe N
|
16086153 |
2005 |
34 |
Effect of human erythropoietin (hEPO) treatment on anemia in ICR-derived glomerulonephritis (ICGN) mice.
61
|
Miyamoto Y...Manabe N
|
15897628 |
2005 |
35 |
Improvement of anemia associated with chronic renal failure by recombinant human erythropoietin treatment in ICR-derived glomerulonephritis (ICGN) mice.
61
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Yamaguchi-Yamada M...Ogura A
|
15297765 |
2004 |
36 |
Anemia with chronic renal disorder and disrupted metabolism of erythropoietin in ICR-derived glomerulonephritis (ICGN) mice.
61
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Yamaguchi-Yamada M...Miyamoto H
|
15133273 |
2004 |
37 |
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.
61
|
Huber TB...Benzing T
|
14570703 |
2003 |
38 |
Localization of extracellular matrix receptors in ICGN mice, a strain of mice with hereditary nephrotic syndrome.
61
|
Uchio-Yamada K...Miyamoto H
|
11767049 |
2001 |
39 |
Localization of proliferative and apoptotic cells in the kidneys of ICR-derived glomerulonephritis (ICGN) mice.
61
|
Yamaguchi M...Miyamoto H
|
11503906 |
2001 |
40 |
Decreased matrix metalloproteinase activity in the kidneys of hereditary nephrotic mice (ICGN strain).
61
|
Uchio K...Miyamoto H
|
11014984 |
2000 |
41 |
Abnormalities of extracellular matrices and transforming growth factor beta1 localization in the kidney of the hereditary nephrotic mice (ICGN strain).
61
|
Uchio K...Miyamoto H
|
10458099 |
1999 |
42 |
In vitro fertilization and microinsemination with round spermatids for propagation of nephrotic genes in mice.
61
|
Ogura A...Kimura H
|
16727871 |
1996 |
43 |
Early ultrastructural glomerular alterations in neonatal nephrotic mice (ICGN strain).
61
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Ogura A...Kobayashi Y
|
7604502 |
1995 |
44 |
Hereditary nephrotic syndrome with progression to renal failure in a mouse model (ICGN strain): clinical study.
61
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Ogura A...Yamaguchi Y
|
7830863 |
1994 |