Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
That the tyrosine kinase regulation of FSGS mutation binding to actin filaments can occur in cells was shown by phosphorylation on Y4 and Y31 of the K225E after extended exposure of cells to EGF, with a decrease in ACTN4 aggregates in fibroblasts.
|
31664084 |
2019 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Minimal change disease (60.60%) and focal segmental glomerulosclerosis (FSGS 23%) were the two common lesions.
|
31269922 |
2019 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Transgenic mice that express actinin-4 K256E in podocytes develop podocyte injury, proteinuria, and FSGS in association with glomerular ER stress.
|
29873512 |
2018 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using primary podocytes isolated from wild-type (WT) and FSGS-causing point mutant Actn4 knockin mice, we report responses to periodic stretch.
|
29378953 |
2018 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Synonymous mutations or protein expression losses in ACTN4 are associated with kidney diseases, including focal segmental glomerulosclerosis, characterized by proteinuria and podocyte injury.
|
27998979 |
2017 |
Focal glomerulosclerosis
|
0.500 |
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 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ACTN4 gene, encoding the actin-binding protein α-actinin-4, are a rare cause of autosomal dominant familial focal segmental glomerulosclerosis (FSGS).
|
26740551 |
2016 |
Focal glomerulosclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Her clinical presentation is different from previous descriptions of ACTN4 mediated FSGS, which is characterized by sub-nephrotic proteinuria and slow progression to end stage kidney disease.
|
27977723 |
2016 |
Focal glomerulosclerosis
|
0.500 |
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 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of pathogenic mutations in five genes (NPHS2, TRPC6, ACTN4, INF2 and PLCE1) and of APOL1 risk alleles (G1 and G2) was ascertained in children and adults diagnosed between 1984 and 2011 with FSGS by renal biopsy.
|
24500309 |
2014 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We crossed Col1α1-eGFP-L10a mice with the Actn4(-/-) and Actn4(+/K256E) models of FSGS and analyzed podocyte transcriptional profiles at 2, 6, and 44 weeks of age.
|
24940801 |
2014 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To quantify the contribution of various genes contributing to FSGS, we sequenced INF2 where all mutations have previously been described (exons 2 to 5) in a total of 215 probands and 281 sporadic individuals with FSGS, along with other known genes accounting for autosomal dominant FSGS (ACTN4, TRPC6, and CD2AP) in 213 probands.
|
23014460 |
2013 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO1E and NPHS2).
|
23686279 |
2013 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We used genomic DNA of 48 patients with focal segmental glomerulosclerosis (FSGS) and minimal change disease (MCD) to screen for ACTN4 mutations by high-resolution melting analysis (HRM).
|
23890478 |
2013 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The autosomal dominant form of FSGS is a heterogenic disease caused by mutations within three known genes: α-actinin 4 (ACTN4), canonical transient receptor potential 6 (TRPC6), and the inverted formin 2 (INF2) gene.
|
22971997 |
2013 |
Focal glomerulosclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genomic DNA was extracted from peripheral blood cells, and Sanger sequencing was performed for all exons and exon-intron boundaries of TRPC6 and ACTN4 in the probands of all FSGS pedigrees enrolled in this study.
|
23689571 |
2013 |
Focal glomerulosclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data provide the first link between FSGS-linked ACTN4 mutants and transcriptional activation by nuclear receptor such as RARα and peroxisome proliferator-activated receptor γ.
|
22351778 |
2012 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additionally, two FSGS-associated α-actinin-4 mutations (R310Q and Q348R) inhibited the complex formation between α-actinin-4 and CLP36.
|
21680739 |
2011 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis.
|
19666657 |
2010 |
Focal glomerulosclerosis
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Both patients had non-nephrotic syndrome FSGS with reduced kidney alpha-actinin-4 expression.
|
19142020 |
2009 |
Focal glomerulosclerosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in alpha-actinin-4 have been linked to familial focal segmental glomerulosclerosis (FSGS), a common renal disorder in humans, and produce an apparent increase in the actin-binding affinity of alpha-actinin-4 in vitro.
|
18164029 |
2008 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
|
18436095 |
2008 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis.
|
18164029 |
2008 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial and genetic forms of focal segmental glomerulosclerosis (FSGS) are associated with six different mutations in genes affecting the podocyte (NPHS2, ACTN4, CD2AP, WT1, TRPC6, and PLCE1).
|
17530296 |
2007 |
Focal glomerulosclerosis
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The possible contribution of noncoding variation in ACTN4 to the development of FSGS also was assessed.
|
16251236 |
2005 |