Affiliation: University of California
- Werner syndrome: entering the helicase eraC J Epstein
Department of Pediatrics, University of California, San Francisco 94143 0748, USA
Bioessays 18:1025-7. 1996..The discovery of the helicase defect in Werner syndrome provides a road map for future study of its unique pathogenesis and conceivable, but unproved, relationship to the aging process...
- 2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics"Charles J Epstein
Department of Pediatrics and Program in Human Genetics, University of California, San Francisco, CA, USA
Am J Hum Genet 70:300-13. 2002
- Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysemaSamuel Hawgood
Cardiovascular Research Institute and Department of Pediatrics, University of California San Francisco, San Francisco, California 94118 1944, USA
Am J Physiol Lung Cell Mol Physiol 283:L1002-10. 2002..These changes qualitatively resemble the lung pathology seen in SP-D-deficient mice. These doubly deficient mice will be useful in dissecting the potential overlap in function between SP-A and SP-D in host defense...
- Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T(171)65Dn and mouse chromosome 12Angela J Villar
Department of Pediatrics, University of California, San Francisco, San Francisco, California 94143, USA
Mamm Genome 16:79-90. 2005..We conclude that this new model of Down syndrome offers reproductive advantages without sacrificing the integrity of the Ts65Dn model...
- Medical genetics in the genomic medicine of the 21st centuryCharles J Epstein
Department of Pediatrics and Center for Human Genetics, University of California, San Francisco, USA
Am J Hum Genet 79:434-8. 2006
- Urea-selective concentrating defect in transgenic mice lacking urea transporter UT-BBaoxue Yang
Department of Medicine, Cardiovascular Research Institute, University of California, San Francisco, California 94143 0521, USA
J Biol Chem 277:10633-7. 2002..The UT-B null mice generated for these studies should also be useful in establishing the role of facilitated urea transport in extrarenal organs expressing UT-B...
- Transgenic and mutant mice for oxygen free radical studiesTing Ting Huang
Department of Pediatrics, Genetics Division, University of California, San Francisco, California 94143, USA
Methods Enzymol 349:191-213. 2002
- Genes contributing to prion pathogenesisGULTEKIN TAMGUNEY
Institute for Neurodegenerative Diseases, University of California, San Francisco, CA, USA
J Gen Virol 89:1777-88. 2008....
- Effect of SOD1 overexpression on age- and noise-related hearing lossDonald E Coling
Laboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology Head and Neck Surgery, University of California San Francisco, San Francisco, CA 94143 0526, USA
Free Radic Biol Med 34:873-80. 2003..The results indicate the complexity of oxidative metabolism in the cochlea is greater than previously hypothesized...
- Is modern genetics the new eugenics?Charles J Epstein
Department of Pediatrics, University of California, San Francisco 9433 0748
Genet Med 5:469-75. 2003
- Medical geneticists in the 21st centuryCharles J Epstein
Department of Pediatrics, University of California San Francisco, 533 Parnassus, San Francisco, CA, USA
Genet Med 7:375-9. 2005
- Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual systemAndrew S Plump
Department of Anatomy, Howard Hughes Medical Institute, CA, USA
Neuron 33:219-32. 2002..Our results indicate that Slit proteins repel retinal axons in vivo and cooperate to establish a corridor through which the axons are channeled, thereby helping define the site in the ventral diencephalon where the optic chiasm forms...
- Selective neuronal vulnerability and inadequate stress response in superoxide dismutase mutant miceStephen Lynn
Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA 94305, USA
Free Radic Biol Med 38:817-28. 2005..Other major classes of differentially expressed genes include lipid biosynthesis and ROS metabolism...
- Abnormal synaptic plasticity in the Ts1Cje segmental trisomy 16 mouse model of Down syndromeRichard J Siarey
Department of Anatomy, Physiology and Genetics, Neuroscience Program, USUHS, School of Medicine, Bethesda, MD 20814, USA
Neuropharmacology 49:122-8. 2005..These findings suggest that genes from Ts1Cje chromosome, including GIRK2 potassium channel, contribute to abnormal short- and long-term plasticity...
- Down's syndrome: critical genes in a critical regionCharles J Epstein
Nature 441:582-3. 2006
- Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degenerationAhmad Salehi
Department of Neurology and Neurological Sciences, Stanford University, Stanford, California 94305, USA
Neuron 51:29-42. 2006..Our study thus provides evidence for a pathogenic mechanism for DS in which increased expression of App, in the context of trisomy, causes abnormal transport of NGF and cholinergic neurodegeneration...
- Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndromeEbrahim Abdul Shukkur
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Saitama, Japan
Hum Mol Genet 15:2752-62. 2006....
- Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationshipsPavel V Belichenko
Department of Neurology and Neurological Sciences and the Center for Research and Treatment of Down Syndrome, Stanford University Medical Center, Stanford, California 94305 5489, USA
J Comp Neurol 504:329-45. 2007..The analysis of data from this and earlier studies points to genotype-phenotype linkages in DS whose complexity ranges from relatively simple to quite complex...
- DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndromeClaudia Canzonetta
Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, University of London, 4 Newark Street, London E1 2AT, UK
Am J Hum Genet 83:388-400. 2008....
- App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndromeAnne M Cataldo
Mailman Research Center, McLean Hospital, Belmont, Massachusetts 02478, USA
J Neurosci 23:6788-92. 2003..These results identify an essential role for App gene triplication in causing AD-related endosomal abnormalities and further establish the pathogenic significance of endosomal dysfunction in AD...
- Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndromeAlexander M Kleschevnikov
Department of Neurology and Neurological Sciences, and the Institute for Neuroscience, Stanford University Medical School, Stanford University, Stanford, California 94305 5489, USA
J Neurosci 24:8153-60. 2004..These findings raise the possibility that similar changes contribute to abnormalities in learning and memory in people with DS and, perhaps, in other developmental disorders with cognitive failure...
- 2001 William Allan Award Address. Introductory speech for Charles J. EpsteinArno G Motulsky
Department of Medicine, University of Washington, Seattle, WA 98195, USA
Am J Hum Genet 70:297-9. 2002
- Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndromeKenji Amano
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
Hum Mol Genet 13:1333-40. 2004..0-fold) in Ts1Cje and 2N mice. These results indicate that the genes in the trisomic region of Ts1Cje are over-expressed in a dosage-dependent manner and are implicated in the molecular pathogenesis of DS...
- Craniofacial phenotypes in segmentally trisomic mouse models for Down syndromeJoan T Richtsmeier
Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16802, USA
Am J Med Genet 107:317-24. 2002..The subtle differences in the craniofacial phenotypes of Ts1Cje and Ts65Dn mice have implications for elucidation of the mechanisms by which this aneuploidy disrupts development...
- Manganese superoxide dismutase deficiency enhances cell turnover via tumor promoter-induced alterations in AP-1 and p53-mediated pathways in a skin cancer modelYunfent Zhao
Graduate Center for Toxicology, University of Kentucky, Lexington, KY 40536, USA
Oncogene 21:3836-46. 2002....
- Effect of the reduction of superoxide dismutase 1 and 2 or treatment with alpha-tocopherol on tumorigenesis in Atm-deficient miceLaura Erker
Departments of Pediatrics and Medicine, Center for Human Genetics and Genomics, UCSD School of Medicine, La Jolla, CA 92093, USA
Free Radic Biol Med 41:590-600. 2006....
- Reactive oxygen species and vascular cell adhesion molecule-1 in distant organ failure following bile duct obstruction in miceZenichi Morise
Department of Surgery, Urawa Municipal Hospital, Saitama, Japan
Dig Dis Sci 47:607-13. 2002..These data suggest that reactive oxygen species produced in response to BDL may up-regulate VCAM-1 expression in the lung and play an important role in the pathophysiology of this pulmonary injury...
- The challenge of Down syndromeStylianos E Antonarakis
Department of Genetic Medicine and Development, University of Geneva Medical School, University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
Trends Mol Med 12:473-9. 2006..As a result, basic research on DS is now rapidly accelerating, and there is hope that the findings will be translatable into benefit for people with DS...
- Increased sensitivity of homozygous Sod2 mutant mice to oxygen toxicityTiina M Asikainen
Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
Free Radic Biol Med 32:175-86. 2002..We conclude that MnSOD is required for normal O2 tolerance and that in the absence of MnSOD there is a compensatory increase in pulmonary glutathione-dependent antioxidant defense in hyperoxia...
- The in vivo gene expression signature of oxidative stressEun Soo Han
Department of Biological Science, University of Tulsa, Tulsa, Oklahoma, USA
Physiol Genomics 34:112-26. 2008..A retrospective comparison with previous studies shows that induction of these p53 target genes is a conserved expression response to oxidative stress, in vivo and in vitro, in different species and different cells/organs...
- A biologically effective fullerene (C60) derivative with superoxide dismutase mimetic propertiesSameh S Ali
Center for the Study of Nervous System Injury CSNSI, Department of Neurology, Washington University, St Louis, MO 63130, USA
Free Radic Biol Med 37:1191-202. 2004..These data, coupled with evidence that C3 localizes to mitochondria, suggest that C3 functionally replaces MnSOD, acting as a biologically effective SOD mimetic...
- Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutaseTing Ting Huang
Department of Neurology and Neurological Sciences, Stanford University, CA 94305, USA
Hum Mol Genet 15:1187-94. 2006..This action of NNT could explain its putative protective role in MnSOD-deficient mice...
- Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S clusterStephen L Clarke
Department of Nutritional Sciences, University of Wisconsin, Madison, WI 53706, USA
EMBO J 25:544-53. 2006..Our results reveal a mechanism for regulating IRP1 action relevant to the control of iron homeostasis during cell proliferation, inflammation, and in response to diseases altering cytosolic Fe-S cluster assembly or disassembly...
- Alterations in mitochondrial function, hydrogen peroxide release and oxidative damage in mouse hind-limb skeletal muscle during agingAbdellah Mansouri
Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229 3901, USA
Mech Ageing Dev 127:298-306. 2006..In addition, increased oxidative stress generated by reduced activity of MnSOD does not exacerbate these alterations during aging...
- Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)V Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Hum Genet 113:447-51. 2003....
- Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate agingHolly Van Remmen
Department of Cellular and Structural Biology at the University of Texas Health Science Center at San Antonio, San Antonio 78229 3900, USA
Physiol Genomics 16:29-37. 2003..Thus life-long reduction of MnSOD activity leads to increased levels of oxidative damage to DNA and increased cancer incidence but does not appear to affect aging...
- A mechanism-based antioxidant approach for the reduction of skin carcinogenesisYunfeng Zhao
Graduate Center for Toxicology and Department of Radiation Medicine, University of Kentucky, Lexington, Kentucky, USA
Cancer Res 65:1401-5. 2005..Remarkably, the incidence and multiplicity of skin tumors were reduced in mice that received MnTE-2-PyP(5+) before cell proliferation. These results show a novel strategy for an antioxidant approach to cancer intervention...
- Multiple deficiencies in antioxidant enzymes in mice result in a compound increase in sensitivity to oxidative stressHolly Van Remmen
Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78284 7762, USA
Free Radic Biol Med 36:1625-34. 2004....
- CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in lifeSailaja Elchuri
Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA 94305, USA
Oncogene 24:367-80. 2005..Increased cell proliferation in the presence of persistent oxidative damage to macromolecules likely contributes to hepatocarcinogenesis later in life...
- Synaptic structural abnormalities in the Ts65Dn mouse model of Down SyndromePavel V Belichenko
Department of Neurology and Neurological Sciences and the Center for Research and Treatment of Down Syndrome, Stanford University Medical Center, 1201 Welch Road, Stanford, California 94305 5489, USA
J Comp Neurol 480:281-98. 2004..They establish the Ts65Dn mouse as a model for abnormal synapse structure and function in Down syndrome and point to the importance of studies to elucidate the mechanisms responsible for synapse enlargement...