|
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 |
|
rs119473033
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
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 |
|
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 |
|
rs1241977606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent.
|
16481888 |
2006 |
|
rs1267969615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the influence of angiotensin-converting enzyme (ACE) I/D, angiotensinogen (AGT) M235T and angiotensin-II-type-1 receptor (AT1R) A1166C genetic polymorphisms on the clinical course of focal segmental glomerulosclerosis (FSGS).
|
14610337 |
2003 |
|
rs1283740147
|
|
|
0.010 |
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 |
|
rs140511594
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results confirm the causal role of the homozygous p.P209L TTC21B mutation in two new families with FSGS and tubulointerstitial disease.
|
26940125 |
2017 |
|
rs1422329310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also screened for the mitochondrial A3243G DNA transition associated with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes), and occasionally FSGS.
|
18443213 |
2008 |
|
rs149117087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The COL4A4 (c. 4195A>T) may co‑segregate with FSGS.
|
29138824 |
2018 |
|
rs1799937
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Stratification by HIV-1 infection status showed that SNPs rs6508, rs2301254, and rs1799937 were significantly associated with FSGS [rs6508 odds ratio (OR) 1.82, P = 0.006; rs2301254 OR 1.65, P = 0.049; rs1799937 OR 1.91, P = 0.005] in the non-HIV-1 group and rs2234591 (OR 0.234, P = 0.011) in the HIV-1 group.
|
15687485 |
2005 |
|
rs1800471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate that TGF-beta(1) gene Arg(25)-->Pro, TNF alpha gene G-308A and IL-6 gene G-174C polymorphisms are not risk factors or markers of progression in focal segmental glomerulosclerosis.
|
15308875 |
2004 |