|
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 |
|
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 |
|
rs2071327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequencies of the four synonymous mutations (c.C294T [p.I98I], c.C2223T [p.T741 T], c.C2289T [p.V763 V], c.G3315A [p.S1105S]) were much higher in FSGS patients than in controls.
|
31216994 |
2019 |
|
rs231775
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission.
|
29968132 |
2019 |
|
rs4806213
|
|
|
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 |
|
rs5742909
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To detect Cytotoxic T- Lymphocyte Antigen-4 (CTLA4) single nucleotide polymorphisms (SNPs) at +49A/G (rs231775) and -318C/T (rs5742909) positions in children with idiopathic nephrotic syndrome (INS) and also assay urinary soluble CTLA4 (sCTLA4) levels in children with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and steroid sensitive nephrotic syndrome (SSNS) in remission.
|
29968132 |
2019 |
|
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 |
|
rs1186292917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first (p.Arg214His) was identified in the FSGS patient with a positive family history.
|
30126379 |
2018 |
|
rs149117087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The COL4A4 (c. 4195A>T) may co‑segregate with FSGS.
|
29138824 |
2018 |
|
rs267606879
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first (p.Arg214His) was identified in the FSGS patient with a positive family history.
|
30126379 |
2018 |
|
rs754313620
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, a mutation in TRNL1 (m. 3290T>C) was identified, which was the first reported variant associated with FSGS.
|
29138824 |
2018 |
|
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 |
|
rs397518473
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, we identified a missense variant (p.T141L) in the short isoform 2 of the X-linked gene asparagine-linked glycosylation 13 (ALG13-is2), which segregated with focal segmental glomerulosclerosis and PCCD in a large Australian pedigree; however, any evidence of its pathogenicity was demonstrated.
|
28178702 |
2017 |
|
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 |
|
rs267607555
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a large pedigree with a pathogenic mutation in LMNA (R349W) in which four members were found to have biopsy-proven FSGS.
|
24080738 |
2013 |
|
rs753350907
|
|
|
0.010 |
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 |
|
rs3802829
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.P15S polymorphism might have some influence on the therapeutic response of FSGS patients.
|
22980509 |
2012 |
|
rs74315344
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The prevalence of p.P20L polymorphism was not significantly different among the groups (6 % in FSGS patients, 1.8 % in IGAN patients, 1 % in the control group).
|
22578956 |
2012 |
|
rs761613959
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The prevalence of p.P20L polymorphism was not significantly different among the groups (6 % in FSGS patients, 1.8 % in IGAN patients, 1 % in the control group).
|
22578956 |
2012 |
|
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 |
|
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 |
|
rs779430565
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first new mutation, p.H218L, was found in a 18-year-old boy who presented a severe form of FSGS at the age of 8 years.
|
21734084 |
2011 |
|
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 |
|
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 |