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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: holzman lb. Nat Genet. 2006 Dec;38(12):1397-405. doi: 10.1038/ng1918. Epub 2006 Nov 5. Nat Genet. 2006. PMID: 17086182
Identification of the glomerular podocyte as a target for growth hormone action.
Reddy GR, Pushpanathan MJ, Ransom RF, Holzman LB, Brosius FC 3rd, Diakonova M, Mathieson P, Saleem MA, List EO, Kopchick JJ, Frank SJ, Menon RK. Reddy GR, et al. Among authors: holzman lb. Endocrinology. 2007 May;148(5):2045-55. doi: 10.1210/en.2006-1285. Epub 2007 Feb 1. Endocrinology. 2007. PMID: 17272398
118 results