Professor, Pediatrics, UCSF
Member, UCSF Biomedical Sciences Graduate Program (BMS) and Herbert Boyer Program in Biological Sciences (PIBS)
| CONTACT | |
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charles.epstein@ucsf.edu Box 0748, UCSF; San Francisco, CA 94143-0748 |
| EDUCATION | |
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Harvard College, Cambridge, MA, A.B., 1955, Chemistry
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| PROFESSIONAL EXPERIENCE | |
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1964-67 |
Chief, Section on Genetics and Development, Lab. of Chem. Biol., NIAMD, NIH |
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1967-72 |
Associate Professor of Pediatrics, University of California, San Francisco |
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1967-date |
Chief, Division of Medical Genetics |
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1972-date |
Professor of Pediatrics, University of California, San Francisco |
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1997-2004 |
Director, UCSF Program in Human Genetics |
| HONORS & AWARDS | |
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(1954, 1958) |
Honors: Phi Beta Kappa (1954), Alpha Omega Alpha (1958) |
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(1959) |
Henry A. Christian Award, Harvard Medical School |
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(1967-72) |
Research Career Development Award, NICHD |
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(1973-74) |
John S. Guggenheim Memorial Foundation Fellowship |
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(1983-84) |
Henry J. Kaiser Senior Fellow, Center for Advanced Study in the Behavioral Sciences, Stanford, CA |
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(1985) |
Fellow, American Association for the Advancement of Science |
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(1985-93) |
MERIT Award, NICHD : Nancy & Daniel Weisman Award for Distinguished Research on Down Syndrome (1990) |
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(1994) |
Faculty Research Lecturer, UCSF |
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(1995) |
March of Dimes Colonel Harland Sanders Award for Lifetime Achievement in the Genetic Sciences |
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(1995) |
Institute of Medicine (National Academy of Sciences) |
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(1997) |
Doctor of Science (Honoris Causa), Northeastern Ohio Universities College of Medicine (1997): 6th World Congress on Down Syndrome Award for Scientific Accomplishment |
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(1998) |
Distinguished Research Award, The Arc of the United States |
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(1999) |
Premio Internazionale Phoenix Anni-Verdi per le Ricerche Genetiche |
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(2000) |
Scholar in Residence, Rockefeller Foundation Bellagio Study & Conference Center |
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(2000) |
Award for Research on Down Syndrome, National Down Syndrome Society |
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(2001) |
William Allan Award, American Society of Human Genetics |
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(2001) |
Central High School of Philadelphia Hall of Fame |
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(2004) |
American Academy of Arts and Sciences |
| SELECTED PUBLICATIONS | |
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SELECTED PUBLICATIONS DURING PAST FIVE YEARS (OF A TOTAL OF 293 Peer-Reviewed Publications) |
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Huang, T.T., Carlson, E.J., Gillespie, A.M., Shi, Y., and Epstein, C.J. Ubiquitous overexpression of CuZn superoxide dismutase does not extend life span in mice. J. Gerontol. A: Biol. Sci. Med. Sci. 55: B5-9, 2000. |
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Ma, T., Song, Y., Yang, B., Gillespie, A., Carlson, E.J., Epstein, C.J., and Verkman, A.S. Nephrogenic diabetes insipidus in mice lacking aquoporin-3 water channels. Proc. Natl. Acad. Sci. USA 97: 4386-4391, 2000. |
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Andreasson, O.A., Ferrante, R.J., Klivenyi, P., Klein, A.M., Shinobu, L.A, Epstein, C.J., and Beal, M.F. Partial deficiency of manganese superoxide dismutase exacerbates a transgenic mouse model of amyotrophic lateral sclerosis. Ann. Neurol. 47: 447-455, 2000. |
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Sago, H., Carlson, E.J., Smith, D.J., Rubin, E.M., Crnic, L.S., Huang, T.-T., and Epstein, C.J. Genetic dissection of the region associated with behavioral abnormalities in mouse models of Down syndrome. Pediatr. Res. 48: 606-613, 2000. |
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Andreassen, O.A., Ferrante, R.J., Dedeoglu, A., Albers, D., Klivenyi, P., Carlson, E.J., Epstein, C.J., and Beal, M.F. Mice with a partial deficiency of manganese superoxide dismutase show increased vulnerability to the mitochondrial toxins malonate, 3-nitropropionic acid, and MPTP. Exp. Neurol 167: 189-195, 2001. |
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Friedman, J., Rebel, V., Derby, R., Bell, K., Huang, T.-T., Kuypers, F., Epstein, C.J., and Burakoff, S.J. Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant. J. Exp. Med. 193: 925-934, 2001. |
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Villar, A.J., Carlson, E.J., Gillespie, A.M., Ursell, P.C., and Epstein, C.J. Cardiomyopathy in mice with paternal uniparental disomy for chromosome 12. Genesis: 30: 274-279, 2001 |
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Van Remmen, H., Williams, M.D., Guo, Z.M., Eastlack, L., Yang, H., Carlson, E.J., Epstein, C.J., Huang, T.T., and Richardson, A. Knockout mice heterozygous for Mn-superoxide dismutase show alterations in cardiac mitochondrial function and apoptosis. Am. J. Physiol. Heart Circ. Physiol. 281: H1422-H1432, 2001. |
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Raineri, I., Carlson, E,J., Gacayan, R., Carra, S., Oberley, T.D., Huang, T.-T., and Epstein, C.J. Strain-dependent high-level expression of a transgene for manganese superoxide dismutase is associated with growth retardation and decreased fertility. Free Radic. Biol. Med. 31: 1018-1030, 2001. |
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Huang, T.-T., Carlson, E.J., Kozy, H.M., Mantha, S., Goodman, S.I., Ursell, P.C., and Epstein, C.J. Genetic modification of the development of prenatal lethality and dilated cardiomyopathy in Mn superoxide dismutase mutant mice. Free Radic Biol Med. 31:1101-1110, 2001. |
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Richtsmeier, J.T., Zumwalt, A., Carlson, E.J., Epstein, C.J., and Reeves, R.H. Craniofacial anomalies in segmentally trisomic mouse models for Down syndrome. Am. J. Med. Genet. 107: 317-324, 2002. |
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Hawgood, S., Ochs, M., Jung, A., Akiyama, J., Allen, L., Brown, C., Edmonson, J., Levitt, S., Carlson, E., Gillespie, A.M., Villar, A., Epstein, C.J., and Poulain, F. Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema. Am. J. Physiol. Lung Cell. Mol. Physiol. 283: L1002-1010, 2002. |
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Cataldo, A.M., Petanceska, S., Peterhoff, C.M., Terio, N.B., Epstein, C.J., Villar, A., Carlson, EJ., Staufenbiel, M., and Nixon, R.A. App gene dosage modulates endosomal abnormalities of AlzheimerÍs disease in a segmental trisomy 16 mouse model of Down syndrome. J. Neurosci. 23:6788-6792, 2003 |
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Coling, D.E., Yu, K.C.Y., Somand, D., Satar, B., Bai, U., Huang. T.-T., Seidman, M.D., Epstein, C.J., Mhatre, A.N., and Lalwani, A. Effect of SOD1 overexpression on age- and noise-related hearing loss. Free Rad. Biol. Med. 34: 873-880, 2003. |
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Sutton, V.R., McAlister, W.H., Bertin, T.K., Kaffe, S., Wang, J.-C.C., Yano, S., Shaffer, L.G., Lee, B., Epstein, C.J., and Villar, A.J. Skeletal defects in paternal uniparental disomy for chromosome 14 are recapitulated in the mouse model (paternal uniparental disomy 12). Human Genet. 113: 447-451, 2003. |
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Van Remmen, H., Ikeno, Y., Hamilton, M., Pahlavani, M., Wolf, N., Thorpe, S.R., Alderson, N.L., Baynes, J.W., Epstein, C.J., Huang, T.-T., Nelson, J., Strong, R., and Richardson, A. Lifelong reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging. Physiol. Genomics 16:29-37, 2003. |
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Amano, K., Sago, H., Uchikawa, C., Suzuki, T., Kotliarova, S.E., Nukina, N., Epstein, C.J., and Yamakawa, K. Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum. Mol. Genet. 13: 1333-1340, 2004.[Epub May 11 ahead of print] |
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Van Remmen, H., Qi, W., Sabia, M, Freeman, G., Estlack, L.E., Yang, H., Guo, Z.M., Huang, T.-T., Strong, J.R., Lee, S., Epstein, C.J., and Richardson, A. Multiple deficiencies in antioxidant enzymes in mice result in a compound increase in sensitivity to oxidative stress. Free Rad. Biol. Med. 36: 1625-1634, 2004. |
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Olson, L.E., Roper, R.J., Baxter, L.L., Carlson, E.J., Epstein, C.J., and Reeves, R.H. Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes. Dev. Dyn. 230: 581-589, 2004. |
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Kleschevnikov, A.M., Belichenko, P., Villar, A.J., Epstein, C.J., Malenka, R., and Mobley, W. Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome. J. Neurosci. 24:8153-8160, 2004. |
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Ali, S.S., Hardt, J.I., Quick, K.K., Kim-Han, J.S., Erlanger, B.F., Huang, T.-T., Epstein, C.J., and Dugan, L.L. A biologically effective fullerene (C60) derivative with superoxide dismutase mimetic properties. Free Rad. Biol. Med. 37: 1191-1202, 2004. |
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Belichenko, P.V., Masliah, E., Kleschevnikov, A.M., Villar, A., Epstein, C.J., Salehi, A., and Mobley, W.C. Synaptic abnormalities in the Ts65Dn mouse model of Down syndrome: evidence for recapitulation of synaptic pathology. J. Comp. Neurol. 480: 281-298, 2004. |
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Elchuri, S., Oberley, T.D., Van Remmen, H., Eisenstein, R.S., Epstein, C.J., and Huang, T.-T. CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life. Oncogene [Epub 1004 Nov 8 ahead of print] |
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Villar, A.J., Kim, J., de Blank, P., Gillespie, A.M., Kozy, H.M., Ursell, P., and Epstein, C.J. The effects of genetic background on cardiovascular anomalies in the Ts16 mouse, Dev. Dyn., in press |
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Villar, A.J., Belichenko, P.V. Gillespie, A.M., Kozy, H.M., Mobley, W.C., and Epstein, C.J. Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian translocation fusion between T(1716)65Dn and mouse chromosome 12. Mamm. Genome, in press |
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Dauphinot, L., Lyle, R., Rivals, I., Tran Dang, M., Moldrich, R., Golfier, G., Ettwiller, L., Toyama, K., Rossier, J., Personnaz, L., Antonarakis, S.E., Epstein, C.J., Sinet, P.-M., and Potier, M.-C. The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome. Hum. Mol. Genet., in press |
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3/15/05 |
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