×
Entrez Id:
7225
Gene Symbol:
TRPC6
TRPC6
0.350
GeneticVariation
disease
BEFREE
We therefore examined whether FSGS -associated mutations in TRPC6 result in activation of these kinases.
23645677
2013
×
Entrez Id:
7225
Gene Symbol:
TRPC6
TRPC6
0.350
GeneticVariation
disease
BEFREE
To extend the screening, we analyzed TRPC6 in 33 Italian children with sporadic early-onset SRNS and three Italian families with adult-onset FSGS .
21734084
2011
×
Entrez Id:
7225
Gene Symbol:
TRPC6
TRPC6
0.350
GeneticVariation
disease
BEFREE
Here we report a novel TRPC6 mutation that leads to early onset FSGS .
19936226
2009
×
Entrez Id:
7225
Gene Symbol:
TRPC6
TRPC6
0.350
GeneticVariation
disease
BEFREE
TRPC6 mutation analysis was performed by direct sequencing in 130 Spanish patients from 115 unrelated families with FSGS .
19458060
2009
×
Entrez Id:
7225
Gene Symbol:
TRPC6
TRPC6
0.350
Biomarker
disease
BEFREE
TRPC6 and FSGS : the latest TRP channelopathy.
17459670
2007
×
Entrez Id:
7225
Gene Symbol:
TRPC6
TRPC6
0.350
Biomarker
disease
GENOMICS_ENGLAND
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
15879175
2005
×
Entrez Id:
64423
Gene Symbol:
INF2
INF2
0.320
GeneticVariation
disease
BEFREE
INF2 mutations in patients with isolated FSGS are clustered in exons 2 to 4, encoding the diaphanous inhibitory domain, involved in the regulation of the podocyte actin cytoskeleton.
29038887
2018
×
Entrez Id:
64423
Gene Symbol:
INF2
INF2
0.320
GeneticVariation
disease
BEFREE
FSGS -causing INF2 mutations impair these interactions and disrupt the ability of INF2 to regulate Rho/Dia-mediated actin dynamics in vitro.
27350175
2016
×
Entrez Id:
64423
Gene Symbol:
INF2
INF2
0.320
Biomarker
disease
GENOMICS_ENGLAND
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
25165188
2014
×
Entrez Id:
55998
Gene Symbol:
NXF5
NXF5
0.310
Biomarker
disease
GENOMICS_ENGLAND
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
23686279
2013
×
Entrez Id:
55998
Gene Symbol:
NXF5
NXF5
0.310
GeneticVariation
disease
BEFREE
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
23686279
2013
×
Entrez Id:
11346
Gene Symbol:
SYNPO
SYNPO
0.310
Biomarker
disease
GENOMICS_ENGLAND
Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis.
19666657
2010
×
Entrez Id:
11346
Gene Symbol:
SYNPO
SYNPO
0.310
GeneticVariation
disease
BEFREE
So we presumed that the ACTN4 and SYNPO promoter mutations might also contribute to pathophysiology of idiopathic FSGS .
19666657
2010
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
0.300
Biomarker
disease
GENOMICS_ENGLAND
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.
29270492
2017
×
Entrez Id:
4010
Gene Symbol:
LMX1B
LMX1B
0.300
Biomarker
disease
GENOMICS_ENGLAND
LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
24042019
2014
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.300
Biomarker
disease
GENOMICS_ENGLAND
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.
24080738
2013
ARHGAP24
0.300
Biomarker
disease
GENOMICS_ENGLAND
Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis.
21911940
2011
×
Entrez Id:
1871
Gene Symbol:
E2F3
E2F3
0.300
Biomarker
disease
GENOMICS_ENGLAND
Pathogenesis of focal segmental glomerular sclerosis in a girl with the partial deletion of chromosome 6p.
21372519
2011
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.080
Biomarker
disease
BEFREE
FSGS lesions resembling human FSGS developed spontaneously by 7 months of age, and could be induced earlier by accelerating kidney hypertrophy by nephrectomy.
28720684
2017
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.080
GeneticVariation
disease
BEFREE
Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS .
26740551
2016
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.080
Biomarker
disease
BEFREE
Urinary miR-196a, miR-30a-5p, and miR-490 discriminated FSGS-A from FSGS -CR, with an area under the curve of ≥ 0.80.
25107948
2014
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.080
GeneticVariation
disease
BEFREE
To investigate the promoter mutations of ACTN4 and SYNPO genes in patients with idiopathic focal segmental glomerulosclerosis (FSGS ), and to provide functional analysis of these mutations in the role of FSGS occurrence.
19666657
2010
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.080
AlteredExpression
disease
BEFREE
Both patients had non-nephrotic syndrome FSGS with reduced kidney alpha-actinin-4 expression.
19142020
2009
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.080
Biomarker
disease
BEFREE
Alpha-actinin-4 -mediated FSGS : an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein.
15208719
2004
×
Entrez Id:
81
Gene Symbol:
ACTN4
ACTN4
0.080
GeneticVariation
disease
BEFREE
We analyzed these reported mutations in ACTN4 and podocin in five patients with chronic renal failure due to therapy-resistant FSGS by direct sequencing of polymerase chain reaction products of ACTN4 and podocin.
12617336
2003