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Items: 30


Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking and activity of the nonselective cation channel TRPC6.

Talbot BE, Vandorpe DH, Stotter BR, Alper SL, Schlondorff JS.

J Biol Chem. 2019 Jul 2. pii: jbc.RA119.008299. doi: 10.1074/jbc.RA119.008299. [Epub ahead of print]


The Glomerular Disease Study and Trial Consortium: A Grassroots Initiative to Foster Collaboration and Innovation.

Poyan Mehr A, Sadeghi-Najafabadi M, Chau K, Messmer J, Pai R, Roy N, Friedman D, Pollak MR, Schlondorff J, Naljayan M, Singh T, Lecker SH, Rodby R, Germain M, Rennke H, Stillman IE.

Kidney Int Rep. 2018 Sep 21;4(1):20-29. doi: 10.1016/j.ekir.2018.09.012. eCollection 2019 Jan. Review.


TRPC6 and kidney disease: sclerosing more than just glomeruli?

Schlondorff J.

Kidney Int. 2017 Apr;91(4):773-775. doi: 10.1016/j.kint.2016.12.033.


Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury.

Subramanian B, Sun H, Yan P, Charoonratana VT, Higgs HN, Wang F, Lai KV, Valenzuela DM, Brown EJ, Schlöndorff JS, Pollak MR.

Kidney Int. 2016 Aug;90(2):363-372. doi: 10.1016/j.kint.2016.04.020. Epub 2016 Jun 24.


APOL1 kidney disease risk variants cause cytotoxicity by depleting cellular potassium and inducing stress-activated protein kinases.

Olabisi OA, Zhang JY, VerPlank L, Zahler N, DiBartolo S 3rd, Heneghan JF, Schlöndorff JS, Suh JH, Yan P, Alper SL, Friedman DJ, Pollak MR.

Proc Natl Acad Sci U S A. 2016 Jan 26;113(4):830-7. doi: 10.1073/pnas.1522913113. Epub 2015 Dec 23.


How many Achilles' heels does a podocyte have? An update on podocyte biology.

Schlondorff J.

Nephrol Dial Transplant. 2015 Jul;30(7):1091-7. doi: 10.1093/ndt/gfu214. Epub 2014 Jun 3. Review. No abstract available.


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.


Gain-of-function mutations in transient receptor potential C6 (TRPC6) activate extracellular signal-regulated kinases 1/2 (ERK1/2).

Chiluiza D, Krishna S, Schumacher VA, Schlöndorff J.

J Biol Chem. 2013 Jun 21;288(25):18407-20. doi: 10.1074/jbc.M113.463059. Epub 2013 May 3.


Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling.

Sun H, Schlondorff J, Higgs HN, Pollak MR.

J Am Soc Nephrol. 2013 May;24(6):917-29. doi: 10.1681/ASN.2012080834. Epub 2013 Apr 25.


SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity.

Carrasquillo R, Tian D, Krishna S, Pollak MR, Greka A, Schlöndorff J.

BMC Cell Biol. 2012 Nov 21;13:33. doi: 10.1186/1471-2121-13-33.


GLCCI1 single nucleotide polymorphisms in pediatric nephrotic syndrome.

Cheong HI, Kang HG, Schlondorff J.

Pediatr Nephrol. 2012 Sep;27(9):1595-9. doi: 10.1007/s00467-012-2197-6. Epub 2012 Jun 4.


Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2).

Sun H, Schlondorff JS, Brown EJ, Higgs HN, Pollak MR.

Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2933-8. doi: 10.1073/pnas.1017010108. Epub 2011 Jan 28.


Antagonistic regulation of actin dynamics and cell motility by TRPC5 and TRPC6 channels.

Tian D, Jacobo SM, Billing D, Rozkalne A, Gage SD, Anagnostou T, Pavenstädt H, Hsu HH, Schlondorff J, Ramos A, Greka A.

Sci Signal. 2010 Oct 26;3(145):ra77. doi: 10.1126/scisignal.2001200. Erratum in: Sci Signal. 2010;3(147):er11. Pavenstaedt, Hermann [corrected to Pavenstädt, Hermann].


More on clinical renal genetics.

Grünfeld JP, Hwu W, Chien Y, Lee N, Chiang S, Dobrovolny R, Huang A, Yeh H, Chao M, Lin S, Kitagawa T, Desnick R, Hsu L, Van Keimpema L, Nevens F, Vanslembrouck R, Van Oijen G, Hoffmann A, Dekker H, De Man R, Drenth J, Alamovitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agrmael T, Marro B, Ronco P, Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns J, Hart P, Hart T, Adams J, Pawtowski A, Clemessy M, Gasc J, Gubler M, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer A, Kmoch S, Brown E, Schlöndorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M.

Clin J Am Soc Nephrol. 2010 Apr;5(4):563-7. doi: 10.2215/CJN.01720210. Epub 2010 Mar 25. No abstract available.


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].


TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.

Schlöndorff J, Del Camino D, Carrasquillo R, Lacey V, Pollak MR.

Am J Physiol Cell Physiol. 2009 Mar;296(3):C558-69. doi: 10.1152/ajpcell.00077.2008. Epub 2009 Jan 7.


Nephrin AKTs on actin: The slit diaphragm-actin cytoskeleton signaling network expands.

Schlondorff J.

Kidney Int. 2008 Mar;73(5):524-6. doi: 10.1038/


Functional genetic variation in aminopeptidase A (ENPEP): lack of clear association with focal and segmental glomerulosclerosis (FSGS).

Tonna S, Dandapani SV, Uscinski A, Appel GB, Schlöndorff JS, Zhang K, Denker BM, Pollak MR.

Gene. 2008 Feb 29;410(1):44-52. doi: 10.1016/j.gene.2007.11.014. Epub 2007 Dec 3.


Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity.

Weins A, Schlondorff JS, Nakamura F, Denker BM, Hartwig JH, Stossel TP, Pollak MR.

Proc Natl Acad Sci U S A. 2007 Oct 9;104(41):16080-5. Epub 2007 Sep 27.


Electrolyte abnormalities and progressive renal failure in a cancer patient.

Schlondorff JS, Mendez GP, Rennke HG, Magee CC.

Kidney Int. 2007 Jun;71(11):1181-4. Epub 2007 Feb 28. No abstract available.


TRPC6 in glomerular health and disease: what we know and what we believe.

Schlöndorff JS, Pollak MR.

Semin Cell Dev Biol. 2006 Dec;17(6):667-74. Epub 2006 Nov 20. Review.


Evidence for a critical role of the tumor necrosis factor alpha convertase (TACE) in ectodomain shedding of the p75 neurotrophin receptor (p75NTR).

Weskamp G, Schlöndorff J, Lum L, Becherer JD, Kim TW, Saftig P, Hartmann D, Murphy G, Blobel CP.

J Biol Chem. 2004 Feb 6;279(6):4241-9. Epub 2003 Nov 24.


Evidence for regulation of the tumor necrosis factor alpha-convertase (TACE) by protein-tyrosine phosphatase PTPH1.

Zheng Y, Schlondorff J, Blobel CP.

J Biol Chem. 2002 Nov 8;277(45):42463-70. Epub 2002 Aug 30.


Intracellular maturation and localization of the tumour necrosis factor alpha convertase (TACE).

Schlöndorff J, Becherer JD, Blobel CP.

Biochem J. 2000 Apr 1;347 Pt 1:131-8.


Evidence for a role of a tumor necrosis factor-alpha (TNF-alpha)-converting enzyme-like protease in shedding of TRANCE, a TNF family member involved in osteoclastogenesis and dendritic cell survival.

Lum L, Wong BR, Josien R, Becherer JD, Erdjument-Bromage H, Schlöndorff J, Tempst P, Choi Y, Blobel CP.

J Biol Chem. 1999 May 7;274(19):13613-8.


Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development.

Kaestner KH, Bleckmann SC, Monaghan AP, Schlöndorff J, Mincheva A, Lichter P, Schütz G.

Development. 1996 Jun;122(6):1751-8.


Six members of the mouse forkhead gene family are developmentally regulated.

Kaestner KH, Lee KH, Schlöndorff J, Hiemisch H, Monaghan AP, Schütz G.

Proc Natl Acad Sci U S A. 1993 Aug 15;90(16):7628-31.

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