|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Identification of R229Q mutations may be of clinical importance, as NPHS2-associated disease appears to define a subgroup of FSGS patients unresponsive to corticosteroids.
|
12464671 |
2002 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
In conclusion, our meta-analysis suggests that for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome and that the p.R229Q allele cannot currently be considered a risk factor for predicting FSGS.
|
24715228 |
2014 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS).
|
18726620 |
2008 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The common variant R229Q of podocin, recently associated with late-onset focal segmental glomerulosclerosis, had an overall allelic frequency of 4.2% versus 2.5% in controls.
|
12707396 |
2003 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
In this paper, we present the currently known pathogenic and benign associations, and show that a rare p.R229Q association can be considered pathogenic if the variant in trans meets the following criteria; it affects the 270-351 residues and alters but does not disrupt the oligomerization, its p.R229Q association is found in a family with slowly progressing focal segmental glomerulosclerosis, but is expected to be rare in the general population (<1:10<sup>6</sup> ).
|
30260545 |
2018 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Nevertheless, the rare association of FSGS to a PAX2 mutation may reflect the modifier effect of p.R229Q in the homozygous state.
|
23800802 |
2013 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent.
|
16481888 |
2006 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The podocin mutation R229Q may play a role in the pathogenesis of FSGS and in early recurrence after transplantation, but does not allow accurate prediction of recurrence or the associated potential for prevention.
|
23982418 |
2013 |
|
rs61747728
|
|
|
0.090 |
GeneticVariation |
BEFREE |
To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation.
|
20947785 |
2011 |
|
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution.
|
18164029 |
2008 |
|
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Despite the absence of a familial pattern of inheritance, these similar biological changes caused by the Y265H and K255E amino acid substitutions suggest that this new variant is potentially the cause of FSGS in this patient.
|
27977723 |
2016 |
|
rs121908415
|
|
|
0.050 |
GeneticVariation |
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 |
|
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A putative kinase target site at Y265 in the actin binding domain was also generated as a phosphomimetic ACTN4 Y265E that demonstrated even greater binding to actin filaments than K255E and the other FSGS mutants.
|
31664084 |
2019 |
|
rs121908415
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Transgenic mice that express actinin-4 K256E in podocytes develop podocyte injury, proteinuria, and FSGS in association with glomerular ER stress.
|
29873512 |
2018 |
|
rs121908416
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Natural mutations such as lysine 255 to glutamic acid (K to E), threonine 259 to isoleucine (T to I) and serine 262 to proline (S to P) that occur within the actin binding domain of alpha-actinin-4 (ACTN4) cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS) in affected humans.
|
31664084 |
2019 |
|
rs121908416
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Furthermore, the sedimentation coefficients by analytical ultracentrifugation of wild-type and FSGS mutant ABDs (Lys255Glu, Ser262Pro, and Thr259Ile) are nearly identical (2.50+/-0.03 S) and are in good agreement with the theoretical value calculated from the crystal structure (2.382 S), implying that the compact conformation is retained in solution.
|
18164029 |
2008 |
|
rs1003629254
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A compound heterozygous podocin mutation was identified in our FSGS patient, leading to a truncated (podocin (V165X)) and a missense mutant protein (podocin (R168H)), respectively.
|
19674119 |
2009 |
|
rs112545413
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, two FSGS-associated α-actinin-4 mutations (R310Q and Q348R) inhibited the complex formation between α-actinin-4 and CLP36.
|
21680739 |
2011 |
|
rs1131692055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Generation of two isogenic iPS cell lines (IRFMNi002-A and IRFMNi002-B) from a patient affected by Focal Segmental Glomerulosclerosis carrying a heterozygous c.565G>A mutation in PAX2 gene.
|
30399566 |
2018 |
|
rs114896482
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls.
|
31216994 |
2019 |
|
rs1186292917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first (p.Arg214His) was identified in the FSGS patient with a positive family history.
|
30126379 |
2018 |
|
rs121434390
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this work we describe the generation and phenotypic characterization of three different transgenic mouse lines with podocyte-specific overexpression of the wild type or any of two mutant forms of Trpc6 (P111Q and E896K) previously related to FSGS.
|
20877463 |
2010 |
|
rs121434395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this work we describe the generation and phenotypic characterization of three different transgenic mouse lines with podocyte-specific overexpression of the wild type or any of two mutant forms of Trpc6 (P111Q and E896K) previously related to FSGS.
|
20877463 |
2010 |
|
rs121908417
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Natural mutations such as lysine 255 to glutamic acid (K to E), threonine 259 to isoleucine (T to I) and serine 262 to proline (S to P) that occur within the actin binding domain of alpha-actinin-4 (ACTN4) cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS) in affected humans.
|
31664084 |
2019 |
|
rs1222213359
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we have not proved any significant influence of the polymorphisms at positions -2578 C/A and -1154 G/A of the vascular endothelial growth factor gene promoter on the progression of chronic glomerulonephritides even though our study suggests a negative effect of CC genotype of -2578 C/A polymorphism on the clinical course of minimal change disease/focal segmental glomerulosclerosis.
|
21978756 |
2011 |