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Items: 1 to 20 of 92

1.

Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis.

Barua M, Shieh E, Schlondorff J, Genovese G, Kaplan BS, Pollak MR.

Kidney Int. 2014 Jan;85(1):124-33. doi: 10.1038/ki.2013.354. Epub 2013 Sep 18.

2.

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.

Hall G, Gbadegesin RA, Lavin P, Wu G, Liu Y, Oh EC, Wang L, Spurney RF, Eckel J, Lindsey T, Homstad A, Malone AF, Phelan PJ, Shaw A, Howell DN, Conlon PJ, Katsanis N, Winn MP.

J Am Soc Nephrol. 2015 Apr;26(4):831-43. doi: 10.1681/ASN.2013101053. Epub 2014 Aug 21.

3.

Mutations in PAX2 associate with adult-onset FSGS.

Barua M, Stellacci E, Stella L, Weins A, Genovese G, Muto V, Caputo V, Toka HR, Charoonratana VT, Tartaglia M, Pollak MR.

J Am Soc Nephrol. 2014 Sep;25(9):1942-53. doi: 10.1681/ASN.2013070686. Epub 2014 Mar 27.

4.

MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

Mele C, Iatropoulos P, Donadelli R, Calabria A, Maranta R, Cassis P, Buelli S, Tomasoni S, Piras R, Krendel M, Bettoni S, Morigi M, Delledonne M, Pecoraro C, Abbate I, Capobianchi MR, Hildebrandt F, Otto E, Schaefer F, Macciardi F, Ozaltin F, Emre S, Ibsirlioglu T, Benigni A, Remuzzi G, Noris M; PodoNet Consortium.

N Engl J Med. 2011 Jul 28;365(4):295-306. doi: 10.1056/NEJMoa1101273. Epub 2011 Jul 14.

5.

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Esposito T, Lea RA, Maher BH, Moses D, Cox HC, Magliocca S, Angius A, Nyholt DR, Titus T, Kay T, Gray NA, Rastaldi MP, Parnham A, Gianfrancesco F, Griffiths LR.

Hum Mol Genet. 2013 Sep 15;22(18):3654-66. doi: 10.1093/hmg/ddt215. Epub 2013 May 16.

PMID:
23686279
6.

Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.

Gbadegesin RA, Hall G, Adeyemo A, Hanke N, Tossidou I, Burchette J, Wu G, Homstad A, Sparks MA, Gomez J, Jiang R, Alonso A, Lavin P, Conlon P, Korstanje R, Stander MC, Shamsan G, Barua M, Spurney R, Singhal PC, Kopp JB, Haller H, Howell D, Pollak MR, Shaw AS, Schiffer M, Winn MP.

J Am Soc Nephrol. 2014 Sep;25(9):1991-2002. doi: 10.1681/ASN.2013090976. Epub 2014 Mar 27.

7.

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR.

Nat Genet. 2010 Jan;42(1):72-6. doi: 10.1038/ng.505. Epub 2009 Dec 20. Erratum in: Nat Genet. 2010 Apr;42(4):361. Tonna, Stephen J [added].

8.

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

Gibson J, Gilbert RD, Bunyan DJ, Angus EM, Fowler DJ, Ennis S.

Genet Res (Camb). 2013 Dec;95(6):165-73. doi: 10.1017/S0016672313000220. Epub 2014 Jan 28.

PMID:
24472419
9.

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.

Wu Y, Hu P, Xu H, Yuan J, Yuan L, Xiong W, Deng X, Deng H.

J Cell Mol Med. 2016 Dec;20(12):2328-2332. doi: 10.1111/jcmm.12924. Epub 2016 Jul 29.

10.

Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis.

Ogino D, Hashimoto T, Hattori M, Sugawara N, Akioka Y, Tamiya G, Makino S, Toyota K, Mitsui T, Hayasaka K.

J Hum Genet. 2016 Feb;61(2):137-41. doi: 10.1038/jhg.2015.122. Epub 2015 Oct 15.

PMID:
26467726
11.

Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.

Winn MP, Conlon PJ, Lynn KL, Howell DN, Gross DA, Rogala AR, Smith AH, Graham FL, Bembe M, Quarles LD, Pericak-Vance MA, Vance JM.

Kidney Int. 1999 Apr;55(4):1241-6.

12.

LMX1B mutations cause hereditary FSGS without extrarenal involvement.

Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C.

J Am Soc Nephrol. 2013 Jul;24(8):1216-22. doi: 10.1681/ASN.2013020171. Epub 2013 May 16.

13.

Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.

Malone AF, Phelan PJ, Hall G, Cetincelik U, Homstad A, Alonso AS, Jiang R, Lindsey TB, Wu G, Sparks MA, Smith SR, Webb NJ, Kalra PA, Adeyemo AA, Shaw AS, Conlon PJ, Jennette JC, Howell DN, Winn MP, Gbadegesin RA.

Kidney Int. 2014 Dec;86(6):1253-9. doi: 10.1038/ki.2014.305. Epub 2014 Sep 17.

14.

Clinical, histopathologic, and genetic studies in nine families with focal segmental glomerulosclerosis.

Rana K, Isbel N, Buzza M, Dagher H, Henning P, Kainer G, Savige J.

Am J Kidney Dis. 2003 Jun;41(6):1170-8.

PMID:
12776268
15.

Pathobiology of focal segmental glomerulosclerosis: new developments.

D'Agati VD.

Curr Opin Nephrol Hypertens. 2012 May;21(3):243-50. doi: 10.1097/MNH.0b013e32835200df. Review.

PMID:
22357339
16.

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

Büscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S.

Clin Nephrol. 2012 Jul;78(1):47-53.

PMID:
22732337
17.

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

Gbadegesin RA, Lavin PJ, Hall G, Bartkowiak B, Homstad A, Jiang R, Wu G, Byrd A, Lynn K, Wolfish N, Ottati C, Stevens P, Howell D, Conlon P, Winn MP.

Kidney Int. 2012 Jan;81(1):94-9. doi: 10.1038/ki.2011.297. Epub 2011 Aug 24.

18.

Podocyte expression of nonmuscle myosin heavy chain-IIA decreases in idiopathic nephrotic syndrome, especially in focal segmental glomerulosclerosis.

Miura K, Kurihara H, Horita S, Chikamoto H, Hattori M, Harita Y, Tsurumi H, Kajiho Y, Sawada Y, Sasaki S, Igarashi T, Kunishima S, Sekine T.

Nephrol Dial Transplant. 2013 Dec;28(12):2993-3003. doi: 10.1093/ndt/gft350. Epub 2013 Sep 15.

PMID:
24042022
19.

TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.

Reiser J, Polu KR, Möller CC, Kenlan P, Altintas MM, Wei C, Faul C, Herbert S, Villegas I, Avila-Casado C, McGee M, Sugimoto H, Brown D, Kalluri R, Mundel P, Smith PL, Clapham DE, Pollak MR.

Nat Genet. 2005 Jul;37(7):739-44. Epub 2005 May 27.

20.

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

Hofstra JM, Lainez S, van Kuijk WH, Schoots J, Baltissen MP, Hoefsloot LH, Knoers NV, Berden JH, Bindels RJ, van der Vlag J, Hoenderop JG, Wetzels JF, Nijenhuis T.

Nephrol Dial Transplant. 2013 Jul;28(7):1830-8. doi: 10.1093/ndt/gfs572. Epub 2013 Jan 4.

PMID:
23291369

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