Genetics of FSGS

Martin Pollak's Laboratory

Publications

Weins et al. "Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity." PNAS 104 (2007): 16080-16085.
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Dandapani et al. "alpha-Actinin-4 Is Required for Normal Podocyte Adhesion." Journal of Biological Chemistry (2007): 467-477.
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Schlondorff et al. "TRPC6 in glomerular health and disease: What we know and what we believe." Semin Cell Dev Biol 17 (2006): 667-674.
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Dandapani et al. "The glomerular filter: Biologic and genetic complexity." Kidney International 70 (2006): 980-982.
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Reiser et al. "TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function." Nature Genetics 37 (2005): 739-744.
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Weins et al. "Mutational and Biological Analysis of alpha-Actinin-4 in Focal Segmental Glomerulosclerosis." J Am Soc Nephrol 16 (2005): 3594-3701.
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Yao, June, et al. "alpha-Actinin-4-Mediated FSGS: An Inherited Kidney Disease Caused by an Aggregated and Rapidly Degraded Cytoskeletal Protein." PLOS--Biology 2 (2004): 0787-0794.
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Kos, Claudine, et al. "Mice deficient in alpha-actinin-4 have severe glomerular disease." J. Clin. Invest. 111 (2003): 1683-1690.
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Kos, Claudine, et al. "The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone." J. Clin. Invest. 111 (2003): 1021-1028.
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Martin R. Pollak. "Inherited Podocytopathies: FSGS and Nephrotic Syndrome from a Genetic Viewpoint." J Am Soc Nephrol 13 (2002): 3016-3023.
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Tsukaguchi, Hiroyasu, et al. "NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele." J. Clin. Invest. 110 (2002): 1659-1666.
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Kaplan, Joshua, and Martin Pollak. "Familial focal segmental glomerulosclerosis." Current Opinion in Nephrology and Hypertension 10 (2001): 183-187.
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Kaplan, Joshua, et al. "Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis." Nature Genetics 24 (2000): 251-256. PDF

Tsukagachi, Hiroyasu, et al. "A Locus for Adolescent and Adult Onset Familial Focal Segmental Glomerulosclerosis on Chromosome 1q25-3." JASN 11 (2000): 1674-1680.
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Mathis, Beverly J., et al. "A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13: Rapid Communication." Kidney International 53 (1998): 282-286.
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