|
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 |
|
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 |
|
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 |
|
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 |
|
rs699
|
|
|
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 |
|
rs1241977606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R229Q variant is not associated with focal segmental glomerulosclerosis in the US population of African descent.
|
16481888 |
2006 |
|
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 |
|
rs2239785
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.
|
20668430 |
2010 |
|
rs71785313
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs188942711
|
|
|
0.010 |
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 |
|
rs149117087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The COL4A4 (c. 4195A>T) may co‑segregate with FSGS.
|
29138824 |
2018 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs530391015
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1186292917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first (p.Arg214His) was identified in the FSGS patient with a positive family history.
|
30126379 |
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 |