Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.
A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis
Michelle P. Winn,1,2*
Peter J. Conlon,4
Kelvin L. Lynn,5
Merry Kay Farrington,1,2
Tony Creazzo,3
April F. Hawkins,1
Nikki Daskalakis,1,2
Shu Ying Kwan,2
Seth Ebersviller,2
James L. Burchette,5
Margaret A. Pericak-Vance,1,2
David N. Howell,5
Jeffery M. Vance,1,2*
Paul B. Rosenberg1*
Abstract:
Focal and segmental glomerulosclerosis (FSGS) is a kidney disorderof unknown etiology, and up to 20% of patients on dialysis havebeen diagnosed with it. Here we show that a large family withhereditary FSGS carries a missense mutation in the TRPC6 geneon chromosome 11q, encoding the ion-channel protein transientreceptor potential cation channel 6 (TRPC6). The proline-to-glutaminesubstitution at position 112, which occurs in a highly conservedregion of the protein, enhances TRPC6-mediated calcium signalsin response to agonists such as angiotensin II and appears toalter the intracellular distribution of TRPC6 protein. Previouswork has emphasized the importance of cytoskeletal and structuralproteins in proteinuric kidney diseases. Our findings suggestan alternative mechanism for the pathogenesis of glomerulardisease.
1 Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA. 2 Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA. 3 Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. 4 Department of Nephrology, Beaumont Hospital, Dublin, Ireland. 5 Department of Nephrology, Christchurch Hospital, Christchurch, New Zealand. 5Department of Pathology, Duke University Medical Center and Durham VA Medical Center, Durham, NC 27710, USA.
* To whom correspondence should be addressed. E-mail: michelle.winn{at}duke.edu (M.P.W.); jeff{at}chg.duhs.duke.edu (J.M.V.); rosen029{at}mc.duke.edu (P.B.R.)
The editors suggest the following Related Resources on Science sites:
LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement.
O. Boyer, S. Woerner, F. Yang, E. J. Oakeley, B. Linghu, O. Gribouval, M.-J. Tete, J. S. Duca, L. Klickstein, A. J. Damask, et al. (2013)
J. Am. Soc. Nephrol.
|Abstract »
Nuclear Factor {kappa}B Mediates Suppression of Canonical Transient Receptor Potential 6 Expression by Reactive Oxygen Species and Protein Kinase C in Kidney Cells.
Y. Wang, M. Ding, S. Chaudhari, Y. Ding, J. Yuan, D. Stankowska, S. He, R. Krishnamoorthy, J. T. Cunningham, and R. Ma (2013)
J. Biol. Chem.
288, 12852-12865
|Abstract »|Full Text »|PDF »
Nuclear factor of activated T cells mediates RhoA-induced fibronectin upregulation in glomerular podocytes.
L. Zhu, X.-Y. Qi, L. Aoudjit, F. Mouawad, C. Baldwin, S. Nattel, and T. Takano (2013)
Am J Physiol Renal Physiol
304, F849-F862
|Abstract »|Full Text »|PDF »
Lipid Kinase Mutations in Heritable Glomerular Microangiopathy.
A. L. George Jr (2013)
J. Am. Soc. Nephrol.
24, 329-330
|Full Text »|PDF »
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.
J. M. Hofstra, S. Lainez, W. H. M. van Kuijk, J. Schoots, M. P. A. Baltissen, L. H. Hoefsloot, N. V. A. M. Knoers, J. H. M. Berden, R. J. M. Bindels, J. van der Vlag, et al. (2013)
Nephrol. Dial. Transplant.
|Abstract »|Full Text »|PDF »
Sustained Activation of N-Methyl-D-Aspartate Receptors in Podoctyes Leads to Oxidative Stress, Mobilization of Transient Receptor Potential Canonical 6 Channels, Nuclear Factor of Activated T Cells Activation, and Apoptotic Cell Death.
E. Y. Kim, M. Anderson, and S. E. Dryer (2012)
Mol. Pharmacol.
82, 728-737
|Abstract »|Full Text »|PDF »
VEGF165b overexpression restores normal glomerular water permeability in VEGF164-overexpressing adult mice.
S. Oltean, C. R. Neal, A. Mavrou, P. Patel, T. Ahad, C. Alsop, T. Lee, K. Sison, Y. Qiu, S. J. Harper, et al. (2012)
Am J Physiol Renal Physiol
303, F1026-F1036
|Abstract »|Full Text »|PDF »
New players in the pathogenesis of focal segmental glomerulosclerosis.
F. Thilo, Y. Liu, C. Loddenkemper, R. Schuelein, A. Schmidt, Z. Yan, Z. Zhu, A. Zakrzewicz, M. Gollasch, and M. Tepel (2012)
Nephrol. Dial. Transplant.
27, 921-929
|Abstract »|Full Text »|PDF »
A self-limiting regulation of vasoconstrictor-activated TRPC3/C6/C7 channels coupled to PI(4,5)P2-diacylglycerol signalling.
Y. Imai, K. Itsuki, Y. Okamura, R. Inoue, and M. X. Mori (2012)
J. Physiol.
590, 1101-1119
|Abstract »|Full Text »|PDF »
The Proteoglycan Syndecan 4 Regulates Transient Receptor Potential Canonical 6 Channels via RhoA/Rho-associated Protein Kinase Signaling.
Y. Liu, F. Echtermeyer, F. Thilo, G. Theilmeier, A. Schmidt, R. Schulein, B. L. Jensen, C. Loddenkemper, V. Jankowski, N. Marcussen, et al. (2012)
Arterioscler Thromb Vasc Biol
32, 378-385
|Abstract »|Full Text »|PDF »
Insulin increases surface expression of TRPC6 channels in podocytes: role of NADPH oxidases and reactive oxygen species.
E. Y. Kim, M. Anderson, and S. E. Dryer (2012)
Am J Physiol Renal Physiol
302, F298-F307
|Abstract »|Full Text »|PDF »
TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.
S. Mir, O. Yavascan, A. Berdeli, and B. Sozeri (2012)
Nephrol. Dial. Transplant.
27, 205-209
|Abstract »|Full Text »|PDF »
Balancing Calcium Signals through TRPC5 and TRPC6 in Podocytes.
Fibroblast Growth Factor Homologous Factor 13 Regulates Na+ Channels and Conduction Velocity in Murine Hearts.
C. Wang, J. A. Hennessey, R. D. Kirkton, C. Wang, V. Graham, R. S. Puranam, P. B. Rosenberg, N. Bursac, and G. S. Pitt (2011)
Circ. Res.
109, 775-782
|Abstract »|Full Text »|PDF »
Reactive Oxygen Species-mediated TRPC6 Protein Activation in Vascular Myocytes, a Mechanism for Vasoconstrictor-regulated Vascular Tone.
Y. Ding, A. Winters, M. Ding, S. Graham, I. Akopova, S. Muallem, Y. Wang, J. H. Hong, Z. Gryczynski, S.-H. Yang, et al. (2011)
J. Biol. Chem.
286, 31799-31809
|Abstract »|Full Text »|PDF »
Calcium Mediates Glomerular Filtration through Calcineurin and mTORC2/Akt Signaling.
J. Vassiliadis, C. Bracken, D. Matthews, S. O'Brien, S. Schiavi, and S. Wawersik (2011)
J. Am. Soc. Nephrol.
22, 1453-1461
|Abstract »|Full Text »|PDF »
TORCing up the Importance of Calcium Signaling.
P. J. Lavin and M. P. Winn (2011)
J. Am. Soc. Nephrol.
22, 1391-1393
|Full Text »|PDF »
TRPC6 Mutations in Children with Steroid-Resistant Nephrotic Syndrome and Atypical Phenotype.
M. Gigante, G. Caridi, E. Montemurno, M. Soccio, M. d'Apolito, G. Cerullo, F. Aucella, A. Schirinzi, F. Emma, L. Massella, et al. (2011)
Clin. J. Am. Soc. Nephrol.
6, 1626-1634
|Abstract »|Full Text »|PDF »
cAMP Activates TRPC6 Channels via the Phosphatidylinositol 3-Kinase (PI3K)-Protein Kinase B (PKB)-Mitogen-activated Protein Kinase Kinase (MEK)-ERK1/2 Signaling Pathway.
B. Shen, H.-Y. Kwan, X. Ma, C.-O. Wong, J. Du, Y. Huang, and X. Yao (2011)
J. Biol. Chem.
286, 19439-19445
|Abstract »|Full Text »|PDF »
Rituximab's New Therapeutic Target: The Podocyte Actin Cytoskeleton.
A. C. Chan (2011)
Science Translational Medicine
3, 85ps21
|Full Text »|PDF »
Tyrosine phosphorylation-dependent activation of TRPC6 regulated by PLC-{gamma}1 and nephrin: effect of mutations associated with focal segmental glomerulosclerosis.
S. Kanda, Y. Harita, Y. Shibagaki, T. Sekine, T. Igarashi, T. Inoue, and S. Hattori (2011)
Mol. Biol. Cell
22, 1824-1835
|Abstract »|Full Text »|PDF »
Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome.
S. Santin, G. Bullich, B. Tazon-Vega, R. Garcia-Maset, I. Gimenez, I. Silva, P. Ruiz, J. Ballarin, R. Torra, and E. Ars (2011)
Clin. J. Am. Soc. Nephrol.
6, 1139-1148
|Abstract »|Full Text »|PDF »
Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation.
T. C. Jungraithmayr, K. Hofer, P. Cochat, G. Chernin, G. Cortina, S. Fargue, P. Grimm, T. Knueppel, A. Kowarsch, T. Neuhaus, et al. (2011)
J. Am. Soc. Nephrol.
22, 579-585
|Abstract »|Full Text »|PDF »
J. Eckel, P. J. Lavin, E. A. Finch, N. Mukerji, J. Burch, R. Gbadegesin, G. Wu, B. Bowling, A. Byrd, G. Hall, et al. (2011)
J. Am. Soc. Nephrol.
22, 526-535
|Abstract »|Full Text »|PDF »
Over-expressing transient receptor potential cation channel 6 in podocytes induces cytoskeleton rearrangement through increases of intracellular Ca2+ and RhoA activation.
L. Jiang, J. Ding, H. Tsai, L. Li, Q. Feng, J. Miao, and Q. Fan (2011)
Experimental Biology and Medicine
236, 184-193
|Abstract »|Full Text »|PDF »
INF2 Is Another Piece of the Jigsaw Puzzle for FSGS.
Y. Pei (2011)
J. Am. Soc. Nephrol.
22, 197-199
|Full Text »|PDF »
Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome.
S. Santin, B. Tazon-Vega, I. Silva, M. A. Cobo, I. Gimenez, P. Ruiz, R. Garcia-Maset, J. Ballarin, R. Torra, E. Ars, et al. (2011)
Clin. J. Am. Soc. Nephrol.
6, 344-354
|Abstract »|Full Text »|PDF »
Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis.
O. Boyer, G. Benoit, O. Gribouval, F. Nevo, M.-J. Tete, J. Dantal, B. Gilbert-Dussardier, G. Touchard, A. Karras, C. Presne, et al. (2011)
J. Am. Soc. Nephrol.
22, 239-245
|Abstract »|Full Text »|PDF »
Neurexin-1, a presynaptic adhesion molecule, localizes at the slit diaphragm of the glomerular podocytes in kidneys.
A. Saito, N. Miyauchi, T. Hashimoto, T. Karasawa, G. D. Han, M. Kayaba, T. Sumi, M. Tomita, Y. Ikezumi, K. Suzuki, et al. (2011)
Am J Physiol Regulatory Integrative Comp Physiol
300, R340-R348
|Abstract »|Full Text »|PDF »
TRPC Channels As Effectors of Cardiac Hypertrophy.
Functional NMDA receptors with atypical properties are expressed in podocytes.
M. Anderson, J. M. Suh, E. Y. Kim, and S. E. Dryer (2011)
Am J Physiol Cell Physiol
300, C22-C32
|Abstract »|Full Text »|PDF »
Protein Kinase C-dependent Phosphorylation of Transient Receptor Potential Canonical 6 (TRPC6) on Serine 448 Causes Channel Inhibition.
S. M. Bousquet, M. Monet, and G. Boulay (2010)
J. Biol. Chem.
285, 40534-40543
|Abstract »|Full Text »|PDF »
Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome.
A. K. Buscher, B. Kranz, R. Buscher, F. Hildebrandt, B. Dworniczak, P. Pennekamp, E. Kuwertz-Broking, A.-M. Wingen, U. John, M. Kemper, et al. (2010)
Clin. J. Am. Soc. Nephrol.
5, 2075-2084
|Abstract »|Full Text »|PDF »
Antagonistic Regulation of Actin Dynamics and Cell Motility by TRPC5 and TRPC6 Channels.
D. Tian, S. M. P. Jacobo, D. Billing, A. Rozkalne, S. D. Gage, T. Anagnostou, H. Pavenstadt, H.-H. Hsu, J. Schlondorff, A. Ramos, et al. (2010)
Science Signaling
3, ra77
|Abstract »|Full Text »|PDF »
Activation of NFAT Signaling in Podocytes Causes Glomerulosclerosis.
Y. Wang, G. Jarad, P. Tripathi, M. Pan, J. Cunningham, D. R. Martin, H. Liapis, J. H. Miner, and F. Chen (2010)
J. Am. Soc. Nephrol.
21, 1657-1666
|Abstract »|Full Text »|PDF »
TRPC6 channels and their binding partners in podocytes: role in glomerular filtration and pathophysiology.
S. E. Dryer and J. Reiser (2010)
Am J Physiol Renal Physiol
299, F689-F701
|Abstract »|Full Text »|PDF »
International Union of Basic and Clinical Pharmacology. LXXVI. Current Progress in the Mammalian TRP Ion Channel Family.
L.-J. Wu, T.-B. Sweet, and D. E. Clapham (2010)
Pharmacol. Rev.
62, 381-404
|Abstract »|Full Text »|PDF »
Anion Exchanger 1 Interacts with Nephrin in Podocytes.
F. Wu, M. A. Saleem, N. B. Kampik, T. J. Satchwell, R. C. Williamson, S. M. Blattner, L. Ni, T. Toth, G. White, M. T. Young, et al. (2010)
J. Am. Soc. Nephrol.
21, 1456-1467
|Abstract »|Full Text »|PDF »
Up-regulation of the Homophilic Adhesion Molecule Sidekick-1 in Podocytes Contributes to Glomerulosclerosis.
L. Kaufman, U. Potla, S. Coleman, S. Dikiy, Y. Hata, H. Kurihara, J. C. He, V. D. D'Agati, and P. E. Klotman (2010)
J. Biol. Chem.
285, 25677-25685
|Abstract »|Full Text »|PDF »
A New Locus for Familial FSGS on Chromosome 2P.
R. Gbadegesin, P. Lavin, L. Janssens, B. Bartkowiak, A. Homstad, G. Wu, B. Bowling, J. Eckel, C. Potocky, D. Abbott, et al. (2010)
J. Am. Soc. Nephrol.
21, 1390-1397
|Abstract »|Full Text »|PDF »
Actin-depolymerizing Factor Cofilin-1 Is Necessary in Maintaining Mature Podocyte Architecture.
P. Garg, R. Verma, L. Cook, A. Soofi, M. Venkatareddy, B. George, K. Mizuno, C. Gurniak, W. Witke, and L. B. Holzman (2010)
J. Biol. Chem.
285, 22676-22688
|Abstract »|Full Text »|PDF »
The Spectrum of MYH9-Associated Nephropathy.
M. A. Bostrom and B. I. Freedman (2010)
Clin. J. Am. Soc. Nephrol.
5, 1107-1113
|Abstract »|Full Text »|PDF »
African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans.
D. M. Behar, S. Rosset, S. Tzur, S. Selig, G. Yudkovsky, S. Bercovici, J. B. Kopp, C. A. Winkler, G. W. Nelson, W. G. Wasser, et al. (2010)
Hum. Mol. Genet.
19, 1816-1827
|Abstract »|Full Text »|PDF »
Renal TRPathies.
A. Dietrich, V. Chubanov, and T. Gudermann (2010)
J. Am. Soc. Nephrol.
21, 736-744
|Abstract »|Full Text »|PDF »
'Idiopathic' FSGS: an increasingly obsolete diagnosis?.
H.-C. Yang and A. B. Fogo (2010)
Nephrol. Dial. Transplant.
25, 654-656
|Full Text »|PDF »
Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis.
S. Dai, Z. Wang, X. Pan, W. Wang, X. Chen, H. Ren, C. Hao, B. Han, and N. Chen (2010)
Nephrol. Dial. Transplant.
25, 824-835
|Abstract »|Full Text »|PDF »
Integrating Human and Rodent Data to Identify the Genetic Factors Involved in Chronic Kidney Disease.
M. R. Garrett, M. G. Pezzolesi, and R. Korstanje (2010)
J. Am. Soc. Nephrol.
21, 398-405
|Abstract »|Full Text »|PDF »
TRPC1 Channels Are Critical for Hypertrophic Signaling in the Heart.
M. Seth, Z.-S. Zhang, L. Mao, V. Graham, J. Burch, J. Stiber, L. Tsiokas, M. Winn, J. Abramowitz, H. A. Rockman, et al. (2009)
Circ. Res.
105, 1023-1030
|Abstract »|Full Text »|PDF »
Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.
E. Machuca, G. Benoit, and C. Antignac (2009)
Hum. Mol. Genet.
18, R185-R194
|Abstract »|Full Text »|PDF »
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
S. Santin, E. Ars, S. Rossetti, E. Salido, I. Silva, R. Garcia-Maset, I. Gimenez, P. Ruiz, S. Mendizabal, J. Luciano Nieto, et al. (2009)
Nephrol. Dial. Transplant.
24, 3089-3096
|Abstract »|Full Text »|PDF »
Podocin Inactivation in Mature Kidneys Causes Focal Segmental Glomerulosclerosis and Nephrotic Syndrome.
G. Mollet, J. Ratelade, O. Boyer, A. O. Muda, L. Morisset, T. A. Lavin, D. Kitzis, M. J. Dallman, L. Bugeon, N. Hubner, et al. (2009)
J. Am. Soc. Nephrol.
20, 2181-2189
|Abstract »|Full Text »|PDF »
RPC6 Up-Regulation in Ang II-Induced Podocyte Apoptosis Might Result from ERK Activation and NF-{kappa}B Translocation.
H. Zhang, J. Ding, Q. Fan, and S. Liu (2009)
Experimental Biology and Medicine
234, 1029-1036
|Abstract »|Full Text »|PDF »
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
A. Pierides, K. Voskarides, Y. Athanasiou, K. Ioannou, L. Damianou, M. Arsali, M. Zavros, M. Pierides, V. Vargemezis, C. Patsias, et al. (2009)
Nephrol. Dial. Transplant.
24, 2721-2729
|Abstract »|Full Text »|PDF »
Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.
A. Shono, H. Tsukaguchi, A. Kitamura, R. Hiramoto, X.-S. Qin, T. Doi, and K. Iijima (2009)
Hum. Mol. Genet.
18, 2943-2956
|Abstract »|Full Text »|PDF »
TRPMLs: in sickness and in health.
R. Puertollano and K. Kiselyov (2009)
Am J Physiol Renal Physiol
296, F1245-F1254
|Abstract »|Full Text »|PDF »
Sensitizing the Slit Diaphragm with TRPC6 Ion Channels.
C. C. Moller, J. Flesche, and J. Reiser (2009)
J. Am. Soc. Nephrol.
20, 950-953
|Abstract »|Full Text »|PDF »
Selective and direct inhibition of TRPC3 channels underlies biological activities of a pyrazole compound.
S. Kiyonaka, K. Kato, M. Nishida, K. Mio, T. Numaga, Y. Sawaguchi, T. Yoshida, M. Wakamori, E. Mori, T. Numata, et al. (2009)
PNAS
106, 5400-5405
|Abstract »|Full Text »|PDF »
Phosphorylation of Nephrin Triggers Ca2+ Signaling by Recruitment and Activation of Phospholipase C-{gamma}1.
Y. Harita, H. Kurihara, H. Kosako, T. Tezuka, T. Sekine, T. Igarashi, I. Ohsawa, S. Ohta, and S. Hattori (2009)
J. Biol. Chem.
284, 8951-8962
|Abstract »|Full Text »|PDF »
Lipid-Protein Interactions along the Slit Diaphragm of Podocytes.
Canonical Transient Receptor Potential Channel (TRPC) 3 and TRPC6 Associate with Large-Conductance Ca2+-Activated K+ (BKCa) Channels: Role in BKCa Trafficking to the Surface of Cultured Podocytes.
E. Y. Kim, C. P. Alvarez-Baron, and S. E. Dryer (2009)
Mol. Pharmacol.
75, 466-477
|Abstract »|Full Text »|PDF »
TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.
J. Schlondorff, D. del Camino, R. Carrasquillo, V. Lacey, and M. R. Pollak (2009)
Am J Physiol Cell Physiol
296, C558-C569
|Abstract »|Full Text »|PDF »
Physiology and pathophysiology of canonical transient receptor potential channels.
TRP_2, a Lipid/Trafficking Domain That Mediates Diacylglycerol-induced Vesicle Fusion.
D. B. van Rossum, D. Oberdick, Y. Rbaibi, G. Bhardwaj, R. K. Barrow, N. Nikolaidis, S. H. Snyder, K. Kiselyov, and R. L. Patterson (2008)
J. Biol. Chem.
283, 34384-34392
|Abstract »|Full Text »|PDF »
Specific TRPC6 Channel Activation, a Novel Approach to Stimulate Keratinocyte Differentiation.
M. Muller, K. Essin, K. Hill, H. Beschmann, S. Rubant, C. M. Schempp, M. Gollasch, W. H. Boehncke, C. Harteneck, W. E. Muller, et al. (2008)
J. Biol. Chem.
283, 33942-33954
|Abstract »|Full Text »|PDF »
Altered functional properties of a TRPM2 variant in Guamanian ALS and PD.
M. C. Hermosura, A. M. Cui, R. C. V. Go, B. Davenport, C. M. Shetler, J. W. Heizer, C. Schmitz, G. Mocz, R. M. Garruto, and A.-L. Perraud (2008)
PNAS
105, 18029-18034
|Abstract »|Full Text »|PDF »
Hemopexin Induces Nephrin-Dependent Reorganization of the Actin Cytoskeleton in Podocytes.
R. Lennon, A. Singh, G. I. Welsh, R. J. Coward, S. Satchell, L. Ni, P. W. Mathieson, W. W. Bakker, and M. A. Saleem (2008)
J. Am. Soc. Nephrol.
19, 2140-2149
|Abstract »|Full Text »|PDF »
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
M. Lowik, E. Levtchenko, D. Westra, P. Groenen, E. Steenbergen, J. Weening, M. Lilien, L. Monnens, and L. v. d. Heuvel (2008)
Nephrol. Dial. Transplant.
23, 3146-3151
|Abstract »|Full Text »|PDF »
The molecular and functional phenotype of glomerular podocytes reveals key features of contractile smooth muscle cells.
M. A. Saleem, J. Zavadil, M. Bailly, K. McGee, I. R. Witherden, H. Pavenstadt, H. Hsu, J. Sanday, S. C. Satchell, R. Lennon, et al. (2008)
Am J Physiol Renal Physiol
295, F959-F970
|Abstract »|Full Text »|PDF »
Nephrin binds to the COOH terminus of a large-conductance Ca2+-activated K+ channel isoform and regulates its expression on the cell surface.
E. Y. Kim, K.-J. Choi, and S. E. Dryer (2008)
Am J Physiol Renal Physiol
295, F235-F246
|Abstract »|Full Text »|PDF »
2007 Young Investigator Award: TRP'ing into a New Era for Glomerular Disease.
Mice Lacking Homer 1 Exhibit a Skeletal Myopathy Characterized by Abnormal Transient Receptor Potential Channel Activity.
J. A. Stiber, Z.-S. Zhang, J. Burch, J. P. Eu, S. Zhang, G. A. Truskey, M. Seth, N. Yamaguchi, G. Meissner, R. Shah, et al. (2008)
Mol. Cell. Biol.
28, 2637-2647
|Abstract »|Full Text »|PDF »
Neph1, a Component of the Kidney Slit Diaphragm, Is Tyrosine-phosphorylated by the Src Family Tyrosine Kinase and Modulates Intracellular Signaling by Binding to Grb2.
Y. Harita, H. Kurihara, H. Kosako, T. Tezuka, T. Sekine, T. Igarashi, and S. Hattori (2008)
J. Biol. Chem.
283, 9177-9186
|Abstract »|Full Text »|PDF »
Chromogranin A Polymorphisms Are Associated With Hypertensive Renal Disease.
R. M. Salem, P. E. Cadman, Y. Chen, F. Rao, G. Wen, B. A. Hamilton, B. K. Rana, D. W. Smith, M. Stridsberg, H. J. Ward, et al. (2008)
J. Am. Soc. Nephrol.
19, 600-614
|Abstract »|Full Text »|PDF »
Development of the renal glomerulus: good neighbors and good fences.
Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome.
B. Hinkes, C. Vlangos, S. Heeringa, B. Mucha, R. Gbadegesin, J. Liu, K. Hasselbacher, F. Ozaltin, F. Hildebrandt, and and Members of the APN Study Group (2008)
J. Am. Soc. Nephrol.
19, 365-371
|Abstract »|Full Text »|PDF »
Identification of BRAF as a new interactor of PLC{varepsilon}1, the protein mutated in nephrotic syndrome type 3.
H. Chaib, B. E. Hoskins, S. Ashraf, M. Goyal, R. C. Wiggins, and F. Hildebrandt (2008)
Am J Physiol Renal Physiol
294, F93-F99
|Abstract »|Full Text »|PDF »
A Case of Familial Kidney Disease.
M. R. Pollak, M. P. Alexander, and J. M. Henderson (2007)
Clin. J. Am. Soc. Nephrol.
2, 1367-1374
|Full Text »|PDF »
COL4A3/COL4A4 Mutations Producing Focal Segmental Glomerulosclerosis and Renal Failure in Thin Basement Membrane Nephropathy.
K. Voskarides, L. Damianou, V. Neocleous, I. Zouvani, S. Christodoulidou, V. Hadjiconstantinou, K. Ioannou, Y. Athanasiou, C. Patsias, E. Alexopoulos, et al. (2007)
J. Am. Soc. Nephrol.
18, 3004-3016
|Abstract »|Full Text »|PDF »
Downregulation of TRPC6 protein expression by high glucose, a possible mechanism for the impaired Ca2+ signaling in glomerular mesangial cells in diabetes.
S. Graham, M. Ding, S. Sours-Brothers, T. Yorio, J.-X. Ma, and R. Ma (2007)
Am J Physiol Renal Physiol
293, F1381-F1390
|Abstract »|Full Text »|PDF »
Molecular architecture of the glomerular slit diaphragm: lessons learnt for a better understanding of disease pathogenesis.
H. Holthofer (2007)
Nephrol. Dial. Transplant.
22, 2124-2128
|Full Text »|PDF »
Familial nephrotic syndrome: PLCE1 enters the fray.
J. A. Jefferson and S. J. Shankland (2007)
Nephrol. Dial. Transplant.
22, 1849-1852
|Full Text »|PDF »
Genetic Susceptibility, HIV Infection, and the Kidney.
K. Kiryluk, J. Martino, and A. G. Gharavi (2007)
Clin. J. Am. Soc. Nephrol.
2, S25-S35
|Abstract »|Full Text »|PDF »
Nuclear relocation of the nephrin and CD2AP-binding protein dendrin promotes apoptosis of podocytes.
K. Asanuma, K. N. Campbell, K. Kim, C. Faul, and P. Mundel (2007)
PNAS
104, 10134-10139
|Abstract »|Full Text »|PDF »
