Research Topics
Genomes and Genes
| Sergio E BaranziniSummaryAffiliation: University of California Country: USA Publications
| Collaborators
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Detail Information
Publications
Systems-based medicine approaches to understand and treat complex diseases. The example of multiple sclerosisSergio E Baranzini
Department of Neurology, School of Medicine, University of California, San Francisco, 513 Parnassus Avenue Room S 256, San Francisco, CA 94143 0435, USA
Autoimmunity 39:651-62. 2006..The challenge of data integration and modeling of dynamical systems is discussed in the context of disease susceptibility and response to treatment. A theoretical framework that supports the use of combination therapy is also presented...
Revealing the genetic basis of multiple sclerosis: are we there yet?Sergio E Baranzini
Department of Neurology, School of Medicine, University of California San Francisco, 513 Parnassus Ave, Room S 256, San Francisco, CA 94143 0435, United States
Curr Opin Genet Dev 21:317-24. 2011....- A genome-wide association study of brain lesion distribution in multiple sclerosisPierre Antoine Gourraud
Department of Neurology, School of Medicine, University of California, San Francisco, 675 Nelson Rising Lane, Suite 215, San Francisco, CA 94158, USA
Brain 136:1012-24. 2013.... 
Genetics of multiple sclerosis: swimming in an ocean of dataSergio E Baranzini
Department of Neurology, University of California, San Francisco, California, USA
Curr Opin Neurol 25:239-45. 2012..This review describes the major advances in the genetics of MS with a slight emphasis on data handling and analysis...- iCTNet: a Cytoscape plugin to produce and analyze integrative complex traits networksLili Wang
School of Computing, Queen s University, 25 Union Street, Goodwin Hall, Kingston, Ontario K7L 3N6, Canada
BMC Bioinformatics 12:380. 2011..This integration is essential to capitalize on the value of current and future molecular- and cellular-level data on humans to gain novel insights about health and disease... - Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosisSergio E Baranzini
Department of Neurology, School of Medicine, University of California San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143 0435, USA
Brain 133:2603-11. 2010..Spectroscopy-based imaging provides a novel quantitative endophenotype for genetic association studies directed towards identifying new factors that contribute to the heterogeneity of clinical expression of multiple sclerosis... - Pathway and network-based analysis of genome-wide association studies in multiple sclerosisSergio E Baranzini
Department of Neurology, School of Medicine, University of California San Francisco, 513 Parnassus Ave Room S 256, San Francisco, CA 94143 0435, USA
Hum Mol Genet 18:2078-90. 2009..In addition to the immunological pathways previously identified, we report here for the first time the potential involvement of neural pathways in MS susceptibility... - Modular transcriptional activity characterizes the initiation and progression of autoimmune encephalomyelitisSergio E Baranzini
Department of Neurology, School of Medicine, University of California, San Francisco, 94143, USA
J Immunol 174:7412-22. 2005..Our study demonstrates the utility of large-scale transcriptional studies and advanced data mining to decipher complex biological processes such as those involved in MS and other neurodegenerative disorders... - Gene expression profiling in neurological disorders: toward a systems-level understanding of the brainSergio E Baranzini
Department of Neurology, School of Medicine, University of California, San Francisco, 513 Parnassus Avenue, Medical Sciences Building S 256, San Francisco, CA 94143, USA
Neuromolecular Med 6:31-51. 2004..Finally, the need for integration of different sources of data is discussed in the context of systems biology and how such integration could result in improved diagnostics, therapies, and disease prevention... - Transcription-based prediction of response to IFNbeta using supervised computational methodsSergio E Baranzini
Department of Neurology, School of Medicine University of California, San Francisco, USA
PLoS Biol 3:e2. 2005..Large-scale kinetic reverse-transcription PCR, coupled with advanced data-mining efforts, can effectively reveal preexisting and drug-induced gene expression signatures associated with therapeutic effects... - The genetics of autoimmune diseases: a networked perspectiveSergio E Baranzini
Department of Neurology, School of Medicine, University of California San Francisco, 513 Parnassus Ave Room S 256, San Francisco, CA 94143 0435, USA
Curr Opin Immunol 21:596-605. 2009..The availability of GWAS data allows for a systematic analysis of similarities and differences among several AID. Using this class of approaches the unique genetic landscape for each autoimmune disease can start to be defined... - Large-scale gene-expression studies and the challenge of multiple sclerosisSergio E Baranzini
Department of Neurology, University of California San Francisco, San Francisco, CA 94143 0435, USA
Genome Biol 3:reviews1027. 2002.... - Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosisSergio E Baranzini
Department of Neurology, University of California at San Francisco, San Francisco, California 94143, USA
Nature 464:1351-6. 2010..These are the first, to our knowledge, female, twin and autoimmune disease individual genome sequences reported... - Genetic variation in the odorant receptors family 13 and the mhc loci influence mate selection in a multiple sclerosis datasetPouya Khankhanian
Department of Neurology, University of California, San Francisco, CA 94143 0435, USA
BMC Genomics 11:626. 2010..Attempts at replication of these genetic results in human studies, however, have reached conflicting conclusions... - Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosisStacy J Caillier
Department of Neurology, University of California, San Francisco, CA 94143, USA
J Immunol 181:5473-80. 2008..The data underscore the power of the African American MS dataset to identify disease genes by association in a region of high linkage disequilibrium... - Axin2 as regulatory and therapeutic target in newborn brain injury and remyelinationStephen P J Fancy
Department of Pediatrics and Neurosurgery, Eli and Edythe Broad Institute for Stem Cell Research and Regeneration Medicine and Howard Hughes Medical Institute, University of California, San Francisco, California, USA
Nat Neurosci 14:1009-16. 2011..Together, these findings indicate that Axin2 is an essential regulator of remyelination and that it might serve as a pharmacological checkpoint in this process... - Increased transcriptional activity of milk-related genes following the active phase of experimental autoimmune encephalomyelitis and multiple sclerosisDavid Otaegui
University of California San Francisco, San Francisco, CA 94143, USA
J Immunol 179:4074-82. 2007..The potential role of lactogenic hormones in MS is discussed... - Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosisEsther Byun
Department of Neurology, University of California, San Francisco, San Francisco, CA 94143 0435, USA
Arch Neurol 65:337-44. 2008..Recombinant interferon beta therapy is widely used to reduce disease activity in multiple sclerosis (MS). However, up to 50% of patients continue to have relapses and worsening disability despite therapy... - Abrogation of T cell quiescence characterizes patients at high risk for multiple sclerosis after the initial neurological eventJean Christophe Corvol
Departments of Neurology and Radiology, University of California, San Francisco, CA 94143 0435, USA
Proc Natl Acad Sci U S A 105:11839-44. 2008..These results indicate that CIS patients at high risk of conversion have impaired regulation of T cell quiescence, possibly resulting in earlier activation of pathogenic CD4(+) cells... - Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosisLisa F Barcellos
Division of Epidemiology, School of Public Health, University of California, Berkeley 94720, USA, and Department of Clinical Neurosciences, University of Cambridge, Addenbrooke s Hospital, UK
Hum Mol Genet 15:2813-24. 2006.... - Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association dataJoanne H Wang
Department of Neurology, University of California San Francisco, San Francisco, CA 94143 0435, USA
Genome Med 3:3. 2011..Nevertheless, the knowledge of MS genetics remains incomplete, with many risk alleles still to be revealed... - The genetics of multiple sclerosis: SNPs to pathways to pathogenesisJorge R Oksenberg
Department of Neurology, School of Medicine, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, California 94143 0435, USA
Nat Rev Genet 9:516-26. 2008.... - Genome-wide network analysis reveals the global properties of IFN-beta immediate transcriptional effects in humansGuy Haskin Fernald
School of Medicine, University of California, San Francisco, CA 94143, USA
J Immunol 178:5076-85. 2007..Implications of this method in the creation of personalized models of response to therapy are discussed... - Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosisSergio E Baranzini
Department of Neurology, University of California, San Francisco, CA 94143 0435, USA
Hum Mol Genet 18:767-78. 2009..Gene ontology-based analysis shows a functional dichotomy between genes involved in the susceptibility pathway and those affecting the clinical phenotype... - Mapping gene activity in complex disorders: Integration of expression and genomic scans for multiple sclerosisGuy Haskin Fernald
Department of Neurology, School of Medicine, University of California, 513 Parnassus Avenue, S-256, San Francisco, CA 94143-0435, USA
J Neuroimmunol 167:157-69. 2005..Integration of genomic and transcriptional information is a powerful tool to dissect genetic susceptibility in complex multifactorial disorders like MS... - The genetics of multiple sclerosis: an up-to-date reviewPierre Antoine Gourraud
Department of Neurology, University of California San Francisco, San Francisco, CA 94143 0435, USA
Immunol Rev 248:87-103. 2012.... - Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1Anne M Slavotinek
Department of Pediatrics, Division of Genetics, University of California, 533 Parnassus Street, Room U585P, San Francisco, CA 94143 0748, USA
J Med Genet 48:375-82. 2011..Autosomal recessive inheritance had been assumed because of consanguinity in the Oji-Cre population of Manitoba and reports of affected siblings, but no locus or cytogenetic aberration had previously been described... - Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility lociPhilip L De Jager
Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Nat Genet 41:776-82. 2009.... - Gene expression analysis reveals altered brain transcription of glutamate receptors and inflammatory genes in a patient with chronic focal (Rasmussen's) encephalitisSergio E Baranzini
Department of Neurology, University of California at San Francisco, 513 Parnassus Avenue, S 256, San Francisco, CA 94143 0435, USA
J Neuroimmunol 128:9-15. 2002..e. IL1 beta, IgVH, and IL2R gamma among others) and a striking down-regulation of several GluRs, in particular mGluR4. This type of analysis may prove useful in describing the molecular events underlying intractable epilepsy... - In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencingDorothee Nickles
Department of Neurology, University of California San Francisco, San Francisco, CA 94143 0435, USA
BMC Genomics 13:477. 2012..A detailed analysis of the genetic alterations introduced by EBV transformation is highly relevant, as it will inform on the usefulness and limitations of this approach... - Myelin regeneration: a recapitulation of development?Stephen P J Fancy
Departments of Pediatrics and Neurosurgery, Eli and Edyth Broad Institute for Stem Cell Research and Regeneration Medicine and Howard Hughes Medical Institute, University of California, San Francisco, California 94143, USA
Annu Rev Neurosci 34:21-43. 2011..Here we review the current evidence for the recapitulation hypothesis and discuss recent findings in the development and regeneration of myelin in the context of human neurological disease... - Dysregulation of the Wnt pathway inhibits timely myelination and remyelination in the mammalian CNSStephen P J Fancy
Institute for Regeneration Medicine, Howard Hughes Medical Institute, University of California at San Francisco, San Francisco, California 94143, USA
Genes Dev 23:1571-85. 2009..Evidence of Wnt pathway activity in human MS lesions suggests that its dysregulation might contribute to inefficient myelin repair in human neurological disorders... - Genomics and new targets for multiple sclerosisSergio E Baranzini
University of California, Department of Neurology, School of Medicine, San Francisco, CA 94143-0435, USA
Pharmacogenomics 6:151-61. 2005..Equally significant, it is likely that locus heterogeneity exists, whereby specific genes influence susceptibility and pathogenesis in some individuals but not in others... - The molecular signature of therapeutic mesenchymal stem cells exposes the architecture of the hematopoietic stem cell niche synapseEnrico Pedemonte
Department of Neurology, School of Medicine, University of California, San Francisco, CA, USA
BMC Genomics 8:65. 2007.... - Multiple sclerosis genetics--is the glass half full, or half empty?Jorge R Oksenberg
Department of Neurology, School of Medicine, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143 0435, USA
Nat Rev Neurol 6:429-37. 2010..This Review briefly summarizes well-established concepts of MS epidemiology and susceptibility, and discusses new knowledge emerging from genome-wide association studies... - Dynamic regulation of alternative ATP-binding cassette transporter A1 transcriptsJarkko Huuskonen
Cardiovascular Research Institute, University of California, San Francisco, CA 94143 0130, USA
Biochem Biophys Res Commun 306:463-8. 2003..In both cell lines class 3 transcript levels were minimal and unchanged. It is shown here for the first time that the regulation of ABCA1 mRNA levels exploits the use of alternative transcription start sites... - New insights into the genetics of multiple sclerosisSergio E Baranzini
Department of Neurology, San Francisco School of Medicine, University of California, 94143, USA
J Rehabil Res Dev 39:201-9. 2002..The identification and characterization of the genes are likely to define the basic etiology of the disease, improve risk assessment, and influence therapeutics... - Mapping multiple sclerosis susceptibility to the HLA-DR locus in African AmericansJorge R Oksenberg
Department of Neurology, University of California at San Francisco, San Francisco, CA 94143 0435, USA
Am J Hum Genet 74:160-7. 2004..This finding is unlikely to be solely explained by admixture, since a substantial proportion of the susceptibility chromosomes from African American patients with MS displayed haplotypes consistent with an African origin... - Quantitative longitudinal analysis of T cell receptor repertoire expression in HIV-infected patients on antiretroviral and interleukin-2 therapyUma Sriram
Department of Neurology University of California at San Francisco, California 94143, USA
AIDS Res Hum Retroviruses 23:741-7. 2007..These results suggest that homeostasis in the T cell receptor repertoire is more robust in those patients who stay on HAART for a long time and confirm the polyclonal stimulating capacity of IL-2... - Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosisRobert Goertsches
Unitat de Neuroimmunologia Clinica, Hospital Universitari Vall d Hebron HUVH, 08035 Barcelona, Spain
Mult Scler 14:412-4. 2008..Transcript expression in brain lesions from MS patients was increased. These findings suggest C10orf27 as a candidate gene for MS susceptibility and pathogenesis... - The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-betaPablo Villoslada
Neuroimmunology Unit, Hospital Vall d'Hebron, Barcelona, Spain
J Neuroimmunol 130:194-201. 2002..Similarly, no difference in the distribution of responders and nonresponders to interferon-beta (IFNB) therapy, as defined by primary and secondary end points, was observed when individuals were stratified according to HLA-DR2 status... - Peroxisome proliferator-activated receptor (PPAR)alpha expression in T cells mediates gender differences in development of T cell-mediated autoimmunityShannon E Dunn
Department of Neurology and Neurological Studies, and 2Department of Pathology, Stanford University Medical Center, Stanford, CA 94305, USA
J Exp Med 204:321-30. 2007..These results suggest that males are less prone to develop Th1-mediated autoimmunity because they have higher T cell expression of PPARalpha... - Proteomic analysis of active multiple sclerosis lesions reveals therapeutic targetsMay H Han
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California 94305, USA
Nature 451:1076-81. 2008..A proteomic approach illuminated potential therapeutic targets selective for specific pathological stages of MS and implicated participation of the coagulation cascade...