Duke Center for Human Genetics Duke University Medical CenterDuke University

   About Us   |   Education/Learning   |   Research/Services   |   Studies/Participation   |   News

About our Studies

Study Disorders

Amyotrophic Lateral Sclerosis (ALS)

Anencephaly

Attention Deficit/Hyperactivity Disorder (AD/HD)

Chiari Malformations and Syringomyelia

Early Onset Cardiovascular Disease

Familial Focal Segmental Glomerulosclerosis (FSGS)

Glaucoma

Multiple Sclerosis (MS)

Myopia

Neural Tube Defects (NTD)

Ophthalmic Genetic Disorders

Sickle Cell Disease (SCD)


Study Participant FAQ
Clinical Staff

Publications

Familial Focal Segmental Glomerulosclerosis (FSGS)

Malik TH, Lavin PJ, Goicoechea de Jorge E, Vernon KA, Rose KL, Patel MP, de Leeuw M, Neary JJ, Conlon PJ, Winn MP, Pickering MC. A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy. J Am Soc Nephrol, 2012 May 24. [Epub ahead of print]

Akilesh S, Suleiman H, Yu H, Stander MC, Lavin P, Antignac C, Pollak M, Winn MP, Shaw AS. Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Inves, 2011 Oct;121(10):4127-37. Epub 2011 Sep 12.

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. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. Kidney Int, 2012 Jan;81(1):94-9. Epub 2011 Aug 24.

Luo X, Hall G, Li S, Bird A, Lavin PJ, Winn MP, Kemper A, Brown T, Koeberl DD. Hepatorenal correction in murin glycogen storage disease type 1 with a double-stranded adeno-associated virus vector. Mol Ther, 2011 Nov;19(11):1961-70.

Gbadegesin R, Lavin P, Foreman J, Winn MP. Pathogenesis and therapy of focal segmental glomerulosclerosis: an update. Pediatr Nephrol. 2011 Jul;26(7):1001-15. Epub 2010 Nov 26. Review.

Eckel J, Lavin PJ, Finch EA, Mukerji N, Burch J, Gbadegesin R, Wu G, Bowling, B, Byrd A, Hall G, Sparks M, Zhang ZS, Homstad A, Barisoni L, Birnbaumer L, Rosenberg P, Winn MP. TRPC6 enhances angiotensin II-induced albuminuria. J Am Soc Nephrol. 2011 Mar;22(3):526-35.

Gbadegesin R, Lavin P, Janssens L, Bartkowiak B, Homstad A, Wu G, Bowling B, Eckel J, Potocky C, Abbott D , Conlon P, Scott WK, Howell D, Hauser E, Winn MP. A New Locus for Familial FSGS on Chromosome 2p. J Am Soc Nephrol. 2010 Aug;21(8):1390-7.

Seth M, Zhang Z, Mao L, Graham V, Burch J, Stiber J, Tsiokas L, Winn, MP, Abramowitz J, Rockman, HA, Birbaumer L, Rosenberg P. TRPC1 channels are critical for hypertrophic signaling in the heart. Circ Research. 2009 Nov 6;105(10):1023-30.

Gbadegesin R, Bartkowiak B, Lavin PJ, Mukerji N, Wu G, Bowling B, Eckel J, Damodaran T, Winn MP. Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS. Pediatr Nephrol. 2009 Feb; 24(2):281-5.

Lavin P, Gbadegesin R, Damodaran TV, Winn, MP. Therapeutic targets in FSGS. Curr Opin Nephrol and Hyperten, 2008 Jul; 17(4):386-392.

Winn MP. 2007 Young Investigator Award: TRP'ing into a New Era for Glomerular Disease. J Am Soc Nephrol, 2008 Jun;19(6):1071-5.

Mukerji N, Damadoran, TV and Winn MP. TRPC6 and FSGS: The Latest TRP Channelopathy. Biochemica et Biophysica Acta; Molecular Basis of Disease, Special Issue The Role of TRP Channels in Disease, 2007; 1772: 859-868.

Daskalakis N and Winn MP. Human genome and diseases: Glomerulosclerosis. Cellular and Molecular Life Sciences, Cell Mol Life Sci. 2006 Sep 4 .

Winn, MP, Daskalakis N, Spurney RF, Middleton, JP. Unexpected Role of TRPC6 Channel in Familial Nephrotic Syndrome: Does it Have Clinical Implications? Journal of the American Society of Neprology, 2006 Feb;17(2):378-87.

Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB. A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis. Science 2005 0: 1106215

Winn MP. Not all in the family: mutations of podocin in sporadic steroid-resistant nephrotic syndrome. J Am Soc Neophrology 13(2):577-579, 2002.

Neary JJ, Conlon PJ, Croke D, Dorman A, Keogan M, Zhang F, Vance JM, Pericak-Vance MA, Scott WK, Winn MP. Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. J Am Soc Nephrology 13(30:2025-2057, 2002.

Hsu SI, Ramirez SB, Winn MP, Bonventre JV, Owen WF. Evidence for genetic factors in the development and progression IgA nephropathy. Kidney International 57(5):1818-1835, 2000.

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. Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. Kidney International 55(4):1241-6, 1999.

Winn MP, Conlon PJ, Lynn KL, Howell DN, Slotterbeck BD, Smith AH, Graham FL, Bembe M, Quarles LD, Pericak-Vance MA, Vance JM. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics 58(2):113-20, 1999.

Conlon PJ, Lynn K, Winn MP, Quarles LD, Bembe ML, Pericak-Vance M, Speer M, Howell DN. Spectrum of disease in familial focal and segmental glomerulosclerosis. Kidney International 56(5):1863-71, 1999.

Conlon PJ et al. Clinical And Pathological Features of Familial Focal Segmental Glomerulosclerosis. American Journal of Kidney Diseases 26(1):34-40, 1995.

// top //

Home | Contact Us | Employment | Giving | Site Map