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Investigator, Howard Hughes Medical Institute Professor of Pediatrics Professor of Human Genetics Frederick G. L. Huetwell Professor for the Cure and Prevention of Birth Defects Doris Duke Distinguished Clinical Scientist |
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| 8220C MSRB III 1150 W. Medical Center Drive Ann Arbor, MI 48109 -646 |
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Our research focuses on positional cloning of genes causing kidney diseases, such as cystic kidney diseases, nephronophthisis, urinary tract malformations, nephrotic syndrome, and Bartter syndrome. We also study the molecular genetics and functional aspects of developmental defects of kidney, eye and auditory system. Mouse models for genetic kidney diseases are generated for novel genes identified.
1997 Franz Volhard Award of the German Society of Nephrology
1998-2002 Heisenberg Scholar of the German Research Foundation (DFG)
2001-Present Frederick G.L. Huetwell Professor for the Cure and Prevention of Birth Defects
2004 E. Mead Johnson Award for Pediatric Research (SPR)
2005 Elected Member of the Association of American Physicians
2007-Present Doris Duke Distinguished Clinical Scientist
2007 Elected Member of the German Academy of Sciences Leopoldina
1Attanasio M, 1Uhlenhaut HN, Sousa V, Dr. O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Sayer JA, Helou H, Seelow D, Nuernberg G, Becker C, Chudley A, Nuernberg P, 2Hildebrandt F, 2Treier M. Loss of GLIS2, a Kruppel-like zinc finger transcription factor, causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nature Genet 39:1018-24, 2007 (1,2 equal contribution)
Hinkes B, Wiggins RC, Gbadegesin R, Vlangos C, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Dietrich A, Becker C, hennies HC, Wharram B, Kennedy MA, Schachter A, Drummond I, Kerjaschki D, Waldherr R, Kelley GC, Ozaltin F, Bakkaloglu A, Petry M, Kispert A, Cleper R, Basel L, Katan M, Liu J, Attanasio M, O'Toole JF, Hasselbacher K, Mucha B, Otto EA, Goyal M, Leroux MR, Gudermann T, Smrcka A, Holzman LB, Nurnberg P, & Hildebrandt F. Positional cloning of PLCE1 mutations as the first cause of nephrotic syndrome with partial response to therapy. Nature Genet 38:1397-1405, 2006 (editorial p. 1360-63)
Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, & Hildebrandt F. A novel centrosomal protein, nephrocystin-6, is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genet 38:674-681, 2006
Hildebrandt F and Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease Nature Rev Genet 6:928-940, 2005
Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, & Hildebrandt F. A novel ciliary IQ domain protein, NPHP5, is mutated in Senior-Loken syndrome (nephronophthisis with retinitis pigmentosa), and interacts with RPGR and calmodulin. Nature Genet 34:282-288, 2005
Ruf RG, Xu P-X, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Berkman J, Gattas M, Hyland V, Ruf E-M, Schwartz C, Chang EH, Smith RJH, Stratakis CA, Weil D, Petit C, & Hildebrandt F. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. P.N.A.S. 101:8090-8095, 2004
Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, & Hildebrandt F. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nature Genet 34:413-20, 2003 (editorial pp. 355-356).
Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto EA, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F & Omran H. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nature Genet 34:455-459, 2003 (editorial pp. 355-356).
Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Lehrach H, Konietzko N, Zariwala M, Knowles M, Mitchison H, Chung E, Hildebrandt F, Sudbrak R and Omran H. Mutations of DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nature Genet 30:143-144, 2002
Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf E-M, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, V. Milford DV, Jeck N, Konrad M, Landau D, Knoers NVAM, Antignac C, Sudbrak R, Kispert A, Hildebrandt F. Bartter syndrome with sensorineural deafness and kidney failure is caused by mutation of a new gene expressed in kidney and during inner ear development. Nature Genet 29:310-4, 2001
Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, & Jentsch TJ. Barttin is a Cl--channel -subunit crucial for renal Cl--reabsorption and inner ear K+-secretion. Nature 414:558-561, 2001 (editorial p. 502-503)
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