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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. Malone AF, et al. Among authors: conlon pj. Kidney Int. 2014 Dec;86(6):1253-9. doi: 10.1038/ki.2014.305. Epub 2014 Sep 17. Kidney Int. 2014. PMID: 25229338 Free PMC article.
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. Hall G, et al. Among authors: conlon pj. J Am Soc Nephrol. 2015 Apr;26(4):831-43. doi: 10.1681/ASN.2013101053. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145932 Free PMC article.
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. Winn MP, et al. Among authors: conlon pj. Kidney Int. 1999 Apr;55(4):1241-6. doi: 10.1046/j.1523-1755.1999.00384.x. Kidney Int. 1999. PMID: 10200986 Free article.
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. Gbadegesin RA, et al. Among authors: conlon p. Kidney Int. 2012 Jan;81(1):94-9. doi: 10.1038/ki.2011.297. Epub 2011 Aug 24. Kidney Int. 2012. PMID: 21866090 Free PMC article.
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. Gbadegesin RA, et al. J Am Soc Nephrol. 2014 Sep;25(9):1991-2002. doi: 10.1681/ASN.2013090976. Epub 2014 Mar 27. J Am Soc Nephrol. 2014. PMID: 24676636 Free PMC article.
Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.
Elahi S, Homstad A, Vaidya H, Stout J, Hall G, Wu G, Conlon P Jr, Routh JC, Wiener JS, Ross SS, Nagaraj S, Wigfall D, Foreman J, Adeyemo A, Gupta IR, Brophy PD, Rabinovich CE, Gbadegesin RA. Elahi S, et al. Pediatr Nephrol. 2016 Feb;31(2):247-53. doi: 10.1007/s00467-015-3203-6. Epub 2015 Sep 25. Pediatr Nephrol. 2016. PMID: 26408188 Free PMC article.
286 results