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1 FSGS as a cause of pediatric end-stage renal disease lea
2 FSGS caused by mutations in INF2 is characterized by a p
3 FSGS is a CKD with heavy proteinuria that eventually pro
4 FSGS is a clinical disorder characterized by focal scarr
5 FSGS is a common glomerular disorder that has a high pro
6 FSGS is characterized by podocyte injury and depletion a
7 FSGS is characterized by segmental scarring of the glome
8 FSGS is characterized by the presence of partial scleros
9 FSGS is the most common primary glomerular disease under
10 FSGS recurrence is highest in young, white children, whe
11 FSGS results from podocyte injury, yet the mechanistic d
12 FSGS, the most common primary glomerular disorder causin
16 to a murine embryonic stem cell line with an FSGS-susceptible genetic background that allows shRNA-me
18 that differed in abundance between cFSGS and FSGS-NOS, 41 were more abundant in cFSGS and 17 in FSGS-
20 markedly in PECs in mouse models of CGN and FSGS, and in kidneys from individuals diagnosed with the
21 switch driving the PEC phenotype in CGN and FSGS, while offering a potential therapeutic avenue to t
22 as the pathological uPAR is circulating and FSGS can recur even after a damaged kidney is replaced w
23 veness, presence of a genetic diagnosis, and FSGS or diffuse mesangial sclerosis on initial biopsy as
26 lasia of the patellae, nails, and elbows and FSGS with specific ultrastructural lesions of the glomer
34 diseases, such as membranous nephropathy and FSGS, persistent injury often leads to irreversible stru
38 wever, for some genes previously reported as FSGS related, we identified rare variants at similar or
40 t diseases affecting the glomerulus, such as FSGS, IgA nephropathy, lupus nephritis, and diabetic nep
42 GS: 70 patients from the North America-based FSGS clinical trial (CT) and 94 patients from PodoNet, t
47 Abrogation of Coq6 in mouse podocytes caused FSGS and proteinuria (>46-fold increases in albuminuria)
50 GN), and nephrotic syndrome (minimal change/FSGS, membranous nephropathy, and C3 glomerulopathies).
57 ew cases aged 35 (15-66) years who developed FSGS recurrence at 12 (1.5-27) days posttransplantation.
58 rom patients with diabetic nephropathy (DN), FSGS, IgA nephropathy (IgAN), membranoproliferative GN (
60 Compared with control proximal tubules, DN, FSGS, IgAN, and MPGN proximal tubules had differential e
61 ree of five patients with autosomal dominant FSGS but without either extrarenal features or ultrastru
62 he cause of nonsyndromic, autosomal dominant FSGS in two Northern European kindreds from the United S
64 in members of an index family with dominant FSGS revealed a nonconservative, disease-segregating var
65 PEC proliferation and the formation of early FSGS lesions in experimental FSGS and reduced human PEC
71 hannel 6 (TRPC6) were identified in familial FSGS, and increased expression of wild-type TRPC6 in glo
74 lated family units with sporadic or familial FSGS and compared this to data from 363 ancestry-matched
76 -exome sequencing in a kindred with familial FSGS, we identified a missense mutation R431C in anillin
79 ecent histologic classification proposed for FSGS has provided additional insights into the prognosis
80 d G2) explain much of the increased risk for FSGS, HIV-associated nephropathy, and hypertension-attri
81 rend analysis of kidney transplantations for FSGS in children (n=2157) showed an increase in cases of
82 analysis of purified podocyte fractions from FSGS mouse models showed an early stress response that i
83 sitive proteome analysis of human glomerular FSGS tissue and purified native mouse podocytes during e
84 disease focal segemental glomerulosclerosis (FSGS), as well as to cases of the neurologic disorder Ch
85 who had focal segmental glomerulosclerosis (FSGS) (four with recurrent FSGS after transplantation an
86 sions in focal segmental glomerulosclerosis (FSGS) and crescentic glomerulonephritis (CGN) remain poo
88 uced focal and segmental glomerulosclerosis (FSGS) and streptozotocin (STZ)-induced diabetic glomerul
89 disease focal segmental glomerulosclerosis (FSGS) and the neurological disorder Charcot-Marie Tooth
90 uPAR) in focal segmental glomerulosclerosis (FSGS) as the circulating factor or as a predictor of rec
91 forms of focal segmental glomerulosclerosis (FSGS) have been linked to gain-of-function mutations in
93 llapsing focal segmental glomerulosclerosis (FSGS) in humans with collapse of the glomerular tuft and
98 Primary focal segmental glomerulosclerosis (FSGS) often causes nephrotic proteinuria and frequently
99 els, and focal segmental glomerulosclerosis (FSGS) patients, whose TNF levels resembled those of heal
103 inked to focal segmental glomerulosclerosis (FSGS), a chronic kidney disease characterized by protein
105 forms of focal segmental glomerulosclerosis (FSGS), a kidney disease characterized by proteinuria due
106 ns cause focal segmental glomerulosclerosis (FSGS), a kidney disease, and FSGS+Charcot-Marie-Tooth ne
108 e (MCD), focal segmental glomerulosclerosis (FSGS), LN and hepatitis B associated glomerulonephritis
124 ction as an additional concept of hereditary FSGS and provides molecular insights into the mechanism
127 ith Adriamycin nephropathy, a model of human FSGS, blocking endogenous retinoic acid synthesis increa
129 C3 deposits frequently accompany idiopathic FSGS and secondary glomerulosclerosis, but it is unknown
132 r losartan (angiotensin-receptor blocker) in FSGS mice stimulated the proliferation of CoRL, increasi
133 that in the context of podocyte depletion in FSGS, RAAS inhibition augments CoRL proliferation and pl
137 pts for cathepsins B and C were increased in FSGS glomeruli compared with normal controls, and urinar
141 findings suggest a novel injury mechanism in FSGS, with possible implications for new treatment strat
146 examine podocytes in early disease states in FSGS mouse models, we used podocyte fractions isolated f
148 s as plausible therapeutic targets: TRPC6 in FSGS, PKD2 in polycystic kidney disease, and TRPM6 in fa
150 tal transgenic ablation of podocytes induces FSGS but the effect of specific ablation of PECs is unkn
151 ive nephropathy provided novel insights into FSGS pathogenesis in the absence of a primary podocyte a
152 ation between podocyte loss and irreversible FSGS and global glomerulosclerosis, this study points to
153 r whether they should be considered isolated FSGS or simply a misdiagnosed type of the Alport spectru
154 summary, these results suggest that isolated FSGS could result from mutations in genes that are also
156 Although our analysis validated many known FSGS-causing genes, we detected a nontrivial number of p
161 high salt; severe albuminuria, nephrinuria, FSGS, and podocyte foot effacement in Ang II-induced hyp
162 or biopsy-based minimal change nephropathy, FSGS, or membranous nephropathy, with 94% sensitivity an
164 ases of posttransplant recurrent and de novo FSGS resistant to conventional therapy with TPE and ritu
166 our monogenic podocyte ER stress-induced NS/FSGS mouse model, the podocyte type 2 ryanodine receptor
168 ether the elevated actin binding activity of FSGS mutants can be downregulated by EGF-mediated phosph
170 ility of both sporadic and familial cases of FSGS and provides a tool to rapidly evaluate candidate F
171 inary suPAR appears to be higher in cases of FSGS destined for recurrence and merits further evaluati
174 hts into the molecular and genetic causes of FSGS have enhanced our understanding of disease pathogen
175 ever, despite many known monogenic causes of FSGS, single gene defects explain only 30% of cases.
176 ns of severe renal disease characteristic of FSGS with proteinuria, loss of kidney function, and glom
177 Histologically, features characteristic of FSGS, including mesangial sclerosis, podocyte foot proce
193 her genetics plays a role in the majority of FSGS cases that are identified as primary or sporadic FS
195 emic insults, a humanized xenograft model of FSGS resulted in an expansion of Gr-1(lo) cells in the B
206 vide evidence for targeting the N-termini of FSGS ACTN4 mutants to downregulate their actin binding a
209 ations in PAX2 may contribute to adult-onset FSGS in the absence of overt extrarenal manifestations.
210 ldren and 20 adults with MCD/MesGN (n=22) or FSGS who had suffered >/=2 recurrences over the previous
212 242 patients with minimal change disease or FSGS, with duplicate readings to evaluate reproducibilit
213 MCD), mesangial proliferative GN (MesGN), or FSGS may be poor and with major treatment toxicity.
215 FSGS was significantly greater than in other FSGS variants, in minimal change disease, or in membrano
220 of TRPC6 in GqQ>L-expressing mice prevented FSGS development and inhibited both tubular damage and p
222 n between minimal change disease and primary FSGS and may serve to guide clinical decision making.
223 , such as minimal change disease and primary FSGS, and glucocorticoids remain the initial and often,
227 to be uniquely elevated in cases of primary FSGS, with higher levels noted in cases that recurred af
230 patients with histologically proven primary FSGS (n = 2) or recurrent FSGS after transplantation (n
231 ildren and adults with biopsy-proven primary FSGS: 70 patients from the North America-based FSGS clin
232 athology in animal models similar to primary FSGS, and one recent study demonstrated elevated levels
233 Causes of native kidney disease were primary FSGS, diabetic nephropathy, membranous nephropathy, immu
234 on in African-American subjects with primary FSGS and may also be present in individuals who do not s
235 ial portion of nephrotic adults with primary FSGS do respond to treatment with a significantly improv
236 S after transplantation and one with primary FSGS) and proteinuria with B7-1 immunostaining of podocy
240 s associated with stabilization of recurrent FSGS and a temporary lowering of plasma suPAR as well as
241 cyte injury in the pathogenesis of recurrent FSGS and further supports the presence of circulating fa
243 ine suPAR was elevated in cases of recurrent FSGS compared with all other causes of end-stage renal d
245 nsplant recipients with de novo or recurrent FSGS resistant to therapeutic plasma exchange (TPE) and/
246 cacy of abatacept in patients with recurrent FSGS after renal transplantation, we investigated B7-1 e
247 ctively treated nine patients with recurrent FSGS after transplant using either abatacept or belatace
248 Indeed, in four patients with recurrent FSGS after transplant, treatment with the B7-1 blocker a
249 omerulosclerosis (FSGS) (four with recurrent FSGS after transplantation and one with primary FSGS) an
251 ey transplantation recipients with recurrent FSGS, rituximab therapy may be a recommended treatment f
252 ated factors, compared with IgAN (referent), FSGS, membranous nephropathy, membranoproliferative GN,
254 fective therapy for posttransplant resistant FSGS cases that fail to respond to TPE and rituximab.
255 w of cases of de novo or recurrent resistant FSGS at 2 large US transplant centers between April 2012
256 ent of focal segmental glomerular sclerosis (FSGS) after kidney transplantation is challenging with u
261 patients with FSGS not otherwise specified (FSGS-NOS) or cFSGS and from normal controls were disting
266 ional studies documented that several of the FSGS-associated PAX2 mutations perturb protein function
267 agment in podocytes and assessed whether the FSGS-associated R218Q mutation impairs INF2 cleavage or
270 F2 mutations that were linked exclusively to FSGS from those that caused a combination of FSGS and Ch
272 polipoprotein L1 (APOL1) have been linked to FSGS in African Americans with HIV or hypertension, supp
274 at endothelial-derived signaling can trigger FSGS and illustrate the potential importance of the EPAS
275 xicity, inflammation, and infection underlie FSGS; however, highly penetrant disease genes have been
278 evated in sera from children and adults with FSGS compared with levels in healthy persons or those wi
282 We screened 250 additional families with FSGS and found another variant, G618C, that segregates w
283 reened 73 additional unrelated families with FSGS and found mutations involving the same amino acid (
286 idney biopsy specimens from individuals with FSGS and kidney samples from a murine model of HIV-1-ass
287 hically and ethnically diverse patients with FSGS and do not reflect a nonspecific proinflammatory mi
292 eruli from biopsy specimens of patients with FSGS not otherwise specified (FSGS-NOS) or cFSGS and fro
293 elevated in 84.3% and 55.3% of patients with FSGS patients in the CT and PodoNet cohorts, respectivel
294 ome analysis of glomeruli from patients with FSGS revealed an underrepresentation of podocyte-specifi
295 docytes in biopsy samples from patients with FSGS, in single glomeruli from proteinuric rats, and in
297 were detectable in a subset of patients with FSGS; C3 was present as an activation fragment and coloc
298 0% of kidney transplant (KT) recipients with FSGS will experience recurrence characterized by protein