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Page 1
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F. Hinkes B, et al. Among authors: mudumana s. Nat Genet. 2006 Dec;38(12):1397-405. doi: 10.1038/ng1918. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086182
osr1 is required for podocyte development downstream of wt1a.
Tomar R, Mudumana SP, Pathak N, Hukriede NA, Drummond IA. Tomar R, et al. Among authors: mudumana sp. J Am Soc Nephrol. 2014 Nov;25(11):2539-45. doi: 10.1681/ASN.2013121327. Epub 2014 Apr 10. J Am Soc Nephrol. 2014. PMID: 24722440 Free PMC article.
The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation.
Mangos S, Lam PY, Zhao A, Liu Y, Mudumana S, Vasilyev A, Liu A, Drummond IA. Mangos S, et al. Among authors: mudumana s. Dis Model Mech. 2010 May-Jun;3(5-6):354-65. doi: 10.1242/dmm.003194. Epub 2010 Mar 24. Dis Model Mech. 2010. PMID: 20335443 Free PMC article.
Collective cell migration drives morphogenesis of the kidney nephron.
Vasilyev A, Liu Y, Mudumana S, Mangos S, Lam PY, Majumdar A, Zhao J, Poon KL, Kondrychyn I, Korzh V, Drummond IA. Vasilyev A, et al. Among authors: mudumana s. PLoS Biol. 2009 Jan 6;7(1):e9. doi: 10.1371/journal.pbio.1000009. PLoS Biol. 2009. PMID: 19127979 Free PMC article.