229 related articles for article (PubMed ID: 16251236)
1. Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.
Weins A; Kenlan P; Herbert S; Le TC; Villegas I; Kaplan BS; Appel GB; Pollak MR
J Am Soc Nephrol; 2005 Dec; 16(12):3694-701. PubMed ID: 16251236
[TBL] [Abstract][Full Text] [Related]
2. Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis.
Komatsuda A; Wakui H; Maki N; Kigawa A; Goto H; Ohtani H; Hamai K; Oyama Y; Makoto H; Sawada K; Imai H
Ren Fail; 2003 Jan; 25(1):87-93. PubMed ID: 12617336
[TBL] [Abstract][Full Text] [Related]
3. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
Kaplan JM; Kim SH; North KN; Rennke H; Correia LA; Tong HQ; Mathis BJ; Rodríguez-Pérez JC; Allen PG; Beggs AH; Pollak MR
Nat Genet; 2000 Mar; 24(3):251-6. PubMed ID: 10700177
[TBL] [Abstract][Full Text] [Related]
4. Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis.
Dai S; Wang Z; Pan X; Wang W; Chen X; Ren H; Hao C; Han B; Chen N
Nephrol Dial Transplant; 2010 Mar; 25(3):824-35. PubMed ID: 19666657
[TBL] [Abstract][Full Text] [Related]
5. Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.
Zhang Q; Ma J; Xie J; Wang Z; Zhu B; Hao X; Yang L; Ren H; Chen N
Contrib Nephrol; 2013; 181():91-100. PubMed ID: 23689571
[TBL] [Abstract][Full Text] [Related]
6. Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.
Aucella F; De Bonis P; Gatta G; Muscarella LA; Vigilante M; di Giorgio G; D'Errico M; Zelante L; Stallone C; Bisceglia L
Nephron Clin Pract; 2005; 99(2):c31-6. PubMed ID: 15627790
[TBL] [Abstract][Full Text] [Related]
7. Focal and segmental glomerulosclerosis in mice with podocyte-specific expression of mutant alpha-actinin-4.
Michaud JL; Lemieux LI; Dubé M; Vanderhyden BC; Robertson SJ; Kennedy CR
J Am Soc Nephrol; 2003 May; 14(5):1200-11. PubMed ID: 12707390
[TBL] [Abstract][Full Text] [Related]
8. Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.
Bartram MP; Habbig S; Pahmeyer C; Höhne M; Weber LT; Thiele H; Altmüller J; Kottoor N; Wenzel A; Krueger M; Schermer B; Benzing T; Rinschen MM; Beck BB
Hum Mol Genet; 2016 Mar; 25(6):1152-64. PubMed ID: 26740551
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
Barua M; Brown EJ; Charoonratana VT; Genovese G; Sun H; Pollak MR
Kidney Int; 2013 Feb; 83(2):316-22. PubMed ID: 23014460
[TBL] [Abstract][Full Text] [Related]
10. Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein.
Yao J; Le TC; Kos CH; Henderson JM; Allen PG; Denker BM; Pollak MR
PLoS Biol; 2004 Jun; 2(6):e167. PubMed ID: 15208719
[TBL] [Abstract][Full Text] [Related]
11. ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.
Dai S; Wang Z; Pan X; Chen X; Wang W; Ren H; Feng Q; He JC; Han B; Chen N
Nephron Clin Pract; 2009; 111(2):c87-94. PubMed ID: 19142020
[TBL] [Abstract][Full Text] [Related]
12. Focal segmental glomerulosclerosis ACTN4 mutants binding to actin: regulation by phosphomimetic mutations.
Shao H; Wingert B; Weins A; Pollak MR; Camacho C; Wells A
Sci Rep; 2019 Oct; 9(1):15517. PubMed ID: 31664084
[TBL] [Abstract][Full Text] [Related]
13. Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors.
Khurana S; Chakraborty S; Lam M; Liu Y; Su YT; Zhao X; Saleem MA; Mathieson PW; Bruggeman LA; Kao HY
J Biol Chem; 2012 Apr; 287(15):12027-35. PubMed ID: 22351778
[TBL] [Abstract][Full Text] [Related]
14. Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.
Feng D; Steinke JM; Krishnan R; Birrane G; Pollak MR
PLoS One; 2016; 11(12):e0167467. PubMed ID: 27977723
[TBL] [Abstract][Full Text] [Related]
15. Mutational analysis of ACTN4, encoding α-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method.
Safaříková M; Reiterová J; Safránková H; Stekrová J; Zidková A; Obeidová L; Kohoutová M; Tesař V
Folia Biol (Praha); 2013; 59(3):110-5. PubMed ID: 23890478
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.
Sanchez-Ares M; Garcia-Vidal M; Antucho EE; Julio P; Eduardo VM; Lens XM; Garcia-Gonzalez MA
Kidney Int; 2013 Jan; 83(1):153-9. PubMed ID: 22971997
[TBL] [Abstract][Full Text] [Related]
17. FSGS-associated alpha-actinin-4 (K256E) impairs cytoskeletal dynamics in podocytes.
Michaud JL; Chaisson KM; Parks RJ; Kennedy CR
Kidney Int; 2006 Sep; 70(6):1054-61. PubMed ID: 16837921
[TBL] [Abstract][Full Text] [Related]
18. Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
Choi HJ; Lee BH; Cho HY; Moon KC; Ha IS; Nagata M; Choi Y; Cheong HI
Am J Kidney Dis; 2008 May; 51(5):834-8. PubMed ID: 18436095
[TBL] [Abstract][Full Text] [Related]
19. Ubiquitin C-terminal hydrolase L1 deletion ameliorates glomerular injury in mice with ACTN4-associated focal segmental glomerulosclerosis.
Read NC; Gutsol A; Holterman CE; Carter A; Coulombe J; Gray DA; Kennedy CR
Biochim Biophys Acta; 2014 Jul; 1842(7):1028-40. PubMed ID: 24662305
[TBL] [Abstract][Full Text] [Related]
20. Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
Löwik M; Levtchenko E; Westra D; Groenen P; Steenbergen E; Weening J; Lilien M; Monnens L; van den Heuvel L
Nephrol Dial Transplant; 2008 Oct; 23(10):3146-51. PubMed ID: 18443213
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]