Jorge R Oksenberg

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Synergy or independence? Deciphering the interaction of HLA Class I and NK cell KIR alleles in early HIV-1 disease progression
    Jason D Barbour
    HIV AIDS Division, Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California, United States of America
    PLoS Pathog 3:e43. 2007
  2. ncbi request reprint Genetics of demyelinating diseases
    J R Oksenberg
    Department of Neurology, School of Medicine, University of California, San Francisco 94143 0435, USA
    Brain Pathol 6:289-302. 1996
  3. ncbi request reprint New insights into the immunogenetics of multiple sclerosis
    J R Oksenberg
    Department of Neurology, School of Medicine, University of California, San Francisco 94143 0114, USA
    Curr Opin Neurol 10:181-5. 1997
  4. ncbi request reprint Multiple sclerosis genetics: leaving no stone unturned
    J R Oksenberg
    Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143, USA
    Genes Immun 6:375-87. 2005
  5. ncbi request reprint Multiple sclerosis: genomic rewards
    J R Oksenberg
    Department of Neurology, School of Medicine, University of California, 94143 0435, San Francisco, CA, USA
    J Neuroimmunol 113:171-84. 2001
  6. pmc Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans
    Jorge 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
  7. ncbi request reprint Genetics of multiple sclerosis
    Jorge R Oksenberg
    Department of Neurology, University of California at San Francisco, School of Medicine, 513 Parnassus Avenue S 256, San Francisco, CA 94143 0435, USA
    Neurol Clin 23:61-75, vi. 2005
  8. doi request reprint Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA
    Bruce A C Cree
    Department of Neurology, University of California San Francisco, USA
    Arch Neurol 66:226-33. 2009
  9. pmc Refining the association of MHC with multiple sclerosis in African Americans
    Joseph P McElroy
    Department of Neurology, University of California, San Francisco, CA 94143, USA
    Hum Mol Genet 19:3080-8. 2010
  10. ncbi request reprint Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis
    Stacy J Caillier
    Department of Neurology, University of California, San Francisco, CA 94143, USA
    J Immunol 181:5473-80. 2008

Detail Information

Publications97

  1. pmc Synergy or independence? Deciphering the interaction of HLA Class I and NK cell KIR alleles in early HIV-1 disease progression
    Jason D Barbour
    HIV AIDS Division, Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California, United States of America
    PLoS Pathog 3:e43. 2007
  2. ncbi request reprint Genetics of demyelinating diseases
    J R Oksenberg
    Department of Neurology, School of Medicine, University of California, San Francisco 94143 0435, USA
    Brain Pathol 6:289-302. 1996
    ..However, no single locus generated overwhelming evidence of linkage. These results suggest a multifactorial etiology, including both environmental and multiple genetic factors of moderate effect...
  3. ncbi request reprint New insights into the immunogenetics of multiple sclerosis
    J R Oksenberg
    Department of Neurology, School of Medicine, University of California, San Francisco 94143 0114, USA
    Curr Opin Neurol 10:181-5. 1997
    ..With the advent of genomic screening and novel statistical approaches, it is possible now to perform an efficient screen of the entire human genome to identify the genetic components of multiple sclerosis...
  4. ncbi request reprint Multiple sclerosis genetics: leaving no stone unturned
    J R Oksenberg
    Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143, USA
    Genes Immun 6:375-87. 2005
    ....
  5. ncbi request reprint Multiple sclerosis: genomic rewards
    J R Oksenberg
    Department of Neurology, School of Medicine, University of California, 94143 0435, San Francisco, CA, USA
    J Neuroimmunol 113:171-84. 2001
    ..Their identification and characterization is likely to define the basic etiology of the disease, improve risk assessment and influence therapeutics...
  6. pmc Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans
    Jorge 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...
  7. ncbi request reprint Genetics of multiple sclerosis
    Jorge R Oksenberg
    Department of Neurology, University of California at San Francisco, School of Medicine, 513 Parnassus Avenue S 256, San Francisco, CA 94143 0435, USA
    Neurol Clin 23:61-75, vi. 2005
  8. doi request reprint Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA
    Bruce A C Cree
    Department of Neurology, University of California San Francisco, USA
    Arch Neurol 66:226-33. 2009
    ....
  9. pmc Refining the association of MHC with multiple sclerosis in African Americans
    Joseph P McElroy
    Department of Neurology, University of California, San Francisco, CA 94143, USA
    Hum Mol Genet 19:3080-8. 2010
    ....
  10. ncbi request reprint Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis
    Stacy 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...
  11. pmc Aggregation of multiple sclerosis genetic risk variants in multiple and single case families
    Pierre Antoine Gourraud
    Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA, USA
    Ann Neurol 69:65-74. 2011
    ..We aimed at investigating the aggregation of genetic MS risk markers in individuals by comparing multiple- and single-case families...
  12. pmc A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01
    Bruce A C Cree
    Department of Neurology, University of California San Francisco, San Francisco, California, United States of America
    PLoS ONE 5:e11296. 2010
    ..Whether other major histocompatibility complex (MHC) genes contribute to MS susceptibility is controversial...
  13. doi request reprint Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosis
    Esther 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...
  14. pmc Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
    Philip 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
    ....
  15. pmc Variation within DNA repair pathway genes and risk of multiple sclerosis
    Farren B S Briggs
    University of California, Berkeley, 94720, USA
    Am J Epidemiol 172:217-24. 2010
    ..Although other candidate genes examined here warrant further follow-up studies, collectively, these results derived from a well-powered study do not support a strong role for common variation within DNA repair pathway genes in MS...
  16. pmc Genetic variation in the odorant receptors family 13 and the mhc loci influence mate selection in a multiple sclerosis dataset
    Pouya 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...
  17. pmc A genome-wide association study of brain lesion distribution in multiple sclerosis
    Pierre 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
    ....
  18. pmc Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis
    Sergio 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...
  19. ncbi request reprint Increased transcriptional activity of milk-related genes following the active phase of experimental autoimmune encephalomyelitis and multiple sclerosis
    David 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...
  20. pmc Genetic risk variants in African Americans with multiple sclerosis
    Noriko Isobe
    Department of Neurology, School of Medicine, University of California, San Francisco, CA, USA
    Neurology 81:219-27. 2013
    ..To assess the association of established multiple sclerosis (MS) risk variants in 3,254 African Americans (1,162 cases and 2,092 controls)...
  21. pmc CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis
    Paola G Bronson
    Genetic Epidemiology and Genomics Laboratory, Division of Epidemiology, School of Public Health, University of California, Berkeley, CA 94720 7356, USA
    Hum Mol Genet 19:2331-40. 2010
    ..15-1.95, P = 2.3 x 10(-3)) of CLEC16A rs6498169*G, a putative MS risk allele adjacent to CIITA. Our results provide strong evidence supporting a role for CIITA variation in MS risk, which appears to depend on the presence of DRB1*1501...
  22. ncbi request reprint Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study
    Lisa F Barcellos
    School of Public Health, Division of Epidemiology, University of California, Berkeley, CA, USA
    Lancet Neurol 5:924-31. 2006
    ..We aimed to identify coexisting autoimmune phenotypes in patients with multiple sclerosis from families with several members with the disease and in their first-degree relatives...
  23. ncbi request reprint Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis
    Lisa 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
    ....
  24. pmc Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data
    Joanne 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...
  25. ncbi request reprint The autoimmune disease-associated IL12B and IL23R polymorphisms in multiple sclerosis
    Ann B Begovich
    Celera, Alameda, CA, USA
    Hum Immunol 68:934-7. 2007
    ..Family-based association analysis was performed. There was no evidence of transmission distortion of any of the tested alleles in this data set...
  26. ncbi request reprint Risk alleles for multiple sclerosis identified by a genomewide study
    David A Hafler
    Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, and Harvard Medical School, Boston, USA
    N Engl J Med 357:851-62. 2007
    ..Multiple sclerosis has a clinically significant heritable component. We conducted a genomewide association study to identify alleles associated with the risk of multiple sclerosis...
  27. doi request reprint Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis
    Sergio 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...
  28. pmc Abrogation of T cell quiescence characterizes patients at high risk for multiple sclerosis after the initial neurological event
    Jean 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...
  29. ncbi request reprint Genome-wide network analysis reveals the global properties of IFN-beta immediate transcriptional effects in humans
    Guy 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...
  30. ncbi request reprint The genetics of multiple sclerosis: SNPs to pathways to pathogenesis
    Jorge 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
    ....
  31. pmc Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis
    Sergio 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...
  32. ncbi request reprint The HLA locus and multiple sclerosis in Sicily
    D Brassat
    Department of Neurology, School of Medicine, University of California at San Francisco, CA 94143 0435, USA
    Neurology 64:361-3. 2005
    ..Sicilian patients share the HLA-DRB1*1501 susceptibility allele with affected living in continental Italy, but also display the allelic heterogeneity that characterizes Mediterranean populations...
  33. ncbi request reprint APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers
    R M Burwick
    Division of Epidemiology, University of California, School of Public Health, Berkeley, CA 94720, USA
    Neurology 66:1373-83. 2006
    ..The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism...
  34. ncbi request reprint Mapping gene activity in complex disorders: Integration of expression and genomic scans for multiple sclerosis
    Guy 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...
  35. pmc Pathway and network-based analysis of genome-wide association studies in multiple sclerosis
    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, 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...
  36. pmc Copy number variation in African Americans
    Joseph P McElroy
    Department of Neurology, University of California, San Francisco, CA, USA
    BMC Genet 10:15. 2009
    ..It is important, therefore, to understand the distribution of CNVs within and among populations. This study is the first report of a CNV map in African Americans...
  37. ncbi request reprint Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans
    D Brassat
    Department of Neurology and Center for Human Genetics, School of Medicine, University of California at San Francisco, USA
    Genes Immun 7:310-5. 2006
    ..01). These results demonstrate the importance of exploring both main effects and gene-gene interactions in the study of complex diseases...
  38. doi request reprint Evaluating the genomic and sequence integrity of human ES cell lines; comparison to normal genomes
    Walter D Funk
    BioTime, Inc, Alameda, CA, USA
    Stem Cell Res 8:154-64. 2012
    ..The combined application of cytogenetic and molecular technologies provides a detailed understanding of genomic and sequence profiles of GMP produced ES lines for potential use as therapeutic agents...
  39. pmc Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci
    Nikolaos A Patsopoulos
    Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Ann Neurol 70:897-912. 2011
    ..To perform a 1-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and to explore functional consequences of new susceptibility loci...
  40. ncbi request reprint Modular transcriptional activity characterizes the initiation and progression of autoimmune encephalomyelitis
    Sergio 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...
  41. ncbi request reprint Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility
    A J Green
    Department of Neurology, University of California at San Francisco, School of Medicine, San Francisco, CA 94143-0435, USA
    J Neuroimmunol 116:116-24. 2001
    ..Distinct clinical phenotypes were also examined and an association between a TGFB1 haplotype and a mild disease course was present (p = 0.008), raising the possibility that TGFB1 or a nearby locus may influence disease expression...
  42. ncbi request reprint Genomics and new targets for multiple sclerosis
    Sergio 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...
  43. pmc Transcription-based prediction of response to IFNbeta using supervised computational methods
    Sergio 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...
  44. ncbi request reprint Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosis
    L F Barcellos
    Division of Epidemiology, School of Public Health, University of California, Berkeley, CA 94720 7356, USA
    Genes Immun 9:493-500. 2008
    ..The very largest study of NOS2A variation in MS, to date, excludes even a modest role for this locus in susceptibility...
  45. pmc HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course
    L F Barcellos
    Department of Neurology, University of California at San Francisco, San Francisco, CA, USA
    Am J Hum Genet 72:710-6. 2003
    ..Concepts of the molecular mechanisms that underlie linkage and association of the human leukocyte antigen (HLA) region to MS need to be revised to accommodate these data...
  46. pmc ApoE alleles, depression and positive affect in multiple sclerosis
    L J Julian
    Department of Medicine, University of California San Francisco, San Francisco, CA, USA
    Mult Scler 15:311-5. 2009
    ..Depression is common in multiple sclerosis (MS) and the role of ApoE alleles is unknown...
  47. ncbi request reprint Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis
    B A C Cree
    Multiple Sclerosis Center, Department of Neurology, University of California San Francisco, 350 Parnassus Ave, Suite 908, San Francisco, CA 94117, USA
    Neurology 63:2039-45. 2004
    ..African American (AA) individuals are thought to develop multiple sclerosis (MS) less frequently than Caucasian American (CA) individuals...
  48. doi request reprint Multiple sclerosis: Prospects and promise
    Stephen L Hauser
    Department of Neurology, University of California, San Francisco, San Francisco, CA
    Ann Neurol 74:317-27. 2013
    ....
  49. pmc Tob1 plays a critical role in the activation of encephalitogenic T cells in CNS autoimmunity
    Ulf Schulze-Topphoff
    Department of Neurology, University of California, San Francisco, CA 94143, USA
    J Exp Med 210:1301-9. 2013
    ..Collectively, our results reveal a critical role for Tob1 in adaptive T cell immune responses that drive development of EAE, thus providing support for the development of Tob1 as a biomarker for demyelinating disease activity...
  50. pmc In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing
    Dorothee 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...
  51. pmc The molecular signature of therapeutic mesenchymal stem cells exposes the architecture of the hematopoietic stem cell niche synapse
    Enrico Pedemonte
    Department of Neurology, School of Medicine, University of California, San Francisco, CA, USA
    BMC Genomics 8:65. 2007
    ..The hematopoietic stem cells (HSCs) niche of the bone marrow is comprised of HSCs, osteoblasts, endothelial cells and a stromal component of non-hematopoietic multipotent cells of mesenchymal origin named "mesenchymal stem cells" (MSCs)...
  52. pmc Differential impact of the CD45 juxtamembrane wedge on central and peripheral T cell receptor responses
    Michelle L Hermiston
    Department of Pediatrics, Medicine, Howard Hughes Medical Institute, University of California, San Francisco, CA 94143, USA
    Proc Natl Acad Sci U S A 106:546-51. 2009
    ..Together, the data support a role for the CD45 wedge in regulation of T cell responses in vivo and suggest that its effects depend on cellular context...
  53. ncbi request reprint Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis
    Lisa F Barcellos
    Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143 0435, USA
    Ann Neurol 55:793-800. 2004
    ..Our results provide strong evidence for linkage and association to a new candidate disease gene on chromosome 17q11 in MS and suggest that variation within NOS2A or a nearby locus contributes to disease susceptibility...
  54. doi request reprint 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...
  55. ncbi request reprint New insights into the genetics of multiple sclerosis
    Sergio 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...
  56. doi request reprint Multiple sclerosis genetics 2010
    Joseph P McElroy
    Department of Neurology, School of Medicine, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
    Neurol Clin 29:219-31. 2011
    ..This article summarizes the new knowledge gained from this experimental approach...
  57. pmc Multiple sclerosis susceptibility alleles in African Americans
    B A Johnson
    Department of Neurology, University of California, San Francisco, CA 94143, USA
    Genes Immun 11:343-50. 2010
    ..None of the tested variants showed results that were statistically inconsistent with the effects established in whites. The results are consistent with shared disease genetic mechanisms among individuals of European and African ancestry...
  58. pmc Genotype-Phenotype correlations in multiple sclerosis: HLA genes influence disease severity inferred by 1HMR spectroscopy and MRI measures
    D T Okuda
    UCSF Multiple Sclerosis Center, University of California, San Francisco, San Francisco, California 94117, USA
    Brain 132:250-9. 2009
    ....
  59. doi request reprint Vitamin D status is associated with relapse rate in pediatric-onset multiple sclerosis
    Ellen M Mowry
    MS Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94117, USA
    Ann Neurol 67:618-24. 2010
    ..We sought to determine if vitamin D status, a risk factor for multiple sclerosis, is associated with the rate of subsequent clinical relapses in pediatric-onset multiple sclerosis...
  60. pmc Conferral of enhanced natural killer cell function by KIR3DS1 in early human immunodeficiency virus type 1 infection
    Brian R Long
    Division of Experimental Medicine, Department of Medicine, San Francisco General Hospital, University of California, San Francisco, USA
    J Virol 82:4785-92. 2008
    ....
  61. ncbi request reprint The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration
    Stephen L Hauser
    Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, California 94143, USA
    Neuron 52:61-76. 2006
    ..Together, these advances have set the stage for the development of therapeutic approaches designed to target the demyelinating and neurodegenerative components of the disease and promote repair...
  62. ncbi request reprint Genetic basis for clinical expression in multiple sclerosis
    L F Barcellos
    Department of Neurology, University of California, San Francisco, California 94143 0114, USA
    Brain 125:150-8. 2002
    ..However, non-HLA genes or other epigenetic factors must modulate disease expression. Locus heterogeneity at the HLA region suggests a distinct immunopathogenesis in DR2 negative patients...
  63. ncbi request reprint Osteopontin polymorphisms and disease course in multiple sclerosis
    S Caillier
    Department of Neurology, University of California, San Francisco, CA 43143 0435, USA
    Genes Immun 4:312-5. 2003
    ..Patients with this genotype were less likely to have a mild disease course and were at increased risk for a secondary-progressive clinical type...
  64. ncbi request reprint Multiple sclerosis genetics
    J P McElroy
    Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143, USA
    Curr Top Microbiol Immunol 318:45-72. 2008
    ....
  65. ncbi request reprint Early editorial manuscript screening versus obligate peer review: a randomized trial
    S Claiborne Johnston
    Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA
    Ann Neurol 61:A10-2. 2007
    ..Editorial screening is now journal policy...
  66. ncbi request reprint Gene expression analysis reveals altered brain transcription of glutamate receptors and inflammatory genes in a patient with chronic focal (Rasmussen's) encephalitis
    Sergio 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...
  67. ncbi request reprint Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA)
    J C Patarroyo
    Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA
    Genes Immun 3:34-7. 2002
    ....
  68. ncbi request reprint Multiple sclerosis and oligodendroglioma
    A J Green
    Department of Neurology, University of California, San Francisco 94143-0114, USA
    Mult Scler 7:269-73. 2001
    ..It is likely that the coexistence of MS and oligodendroglioma is due to chance alone, nonetheless the possibility that glioma derived factors can moderate the disease course in MS is deserving of further study...
  69. ncbi request reprint PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients
    L F Barcellos
    Department of Neurology, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
    Nat Genet 29:23-4. 2001
    ..Overall, we observed no evidence of genetic association between the PTPRC polymorphism and MS susceptibility or disease course...
  70. ncbi request reprint Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expression
    S E Baranzini
    Department of Neurology, University of California, San Francisco, CA 94143, USA
    J Immunol 165:6576-82. 2000
    ..Overall, our data suggest a complex regulation of the inflammatory response in human autoimmune demyelination...
  71. ncbi request reprint Evolution of the CCR5 Delta32 mutation based on haplotype variation in Jewish and Northern European population samples
    W Klitz
    School of Public Health, University of California, Berkeley, CA, USA
    Hum Immunol 62:530-8. 2001
    ....
  72. ncbi request reprint Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis
    U Sriram
    Department of Neurology, University of California, San Francisco 94143 0435, USA
    Genes Immun 4:147-52. 2003
    ..In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis...
  73. ncbi request reprint Characterizing the mechanisms of progression in multiple sclerosis: evidence and new hypotheses for future directions
    E M Frohman
    Department of Neurology, University of Texas Southwestern Medical Center at Dallas, 75235, USA
    Arch Neurol 62:1345-56. 2005
    ....
  74. doi request reprint Longitudinal system-based analysis of transcriptional responses to type I interferons
    D J Pappas
    Department of Neurology, University of California, San Francisco, USA
    Physiol Genomics 38:362-71. 2009
    ..Through the analysis of the dynamic transcriptional events after differential IFN treatment, we were able to identify specific signatures and to uncover novel genes that may underpin the type I IFN response...
  75. pmc Methods for high-density admixture mapping of disease genes
    Nick Patterson
    Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA
    Am J Hum Genet 74:979-1000. 2004
    ..A particularly important result is that the power of an admixture mapping study to detect a locus will be nearly the same for a wide range of mixture scenarios: the mixture proportion should be 10%-90% from both ancestral populations...
  76. ncbi request reprint Multiple sclerosis: deeper understanding of its pathogenesis reveals new targets for therapy
    Lawrence Steinman
    Department of Neurology and Neurological Sciences, Stanford University School of Medicine, California 94305, USA
    Annu Rev Neurosci 25:491-505. 2002
    ..Some of these participants may be useful targets for therapy...
  77. ncbi request reprint Gene-microarray analysis of multiple sclerosis lesions yields new targets validated in autoimmune encephalomyelitis
    Christopher Lock
    Department of Neurology and Neurological Sciences, Beckman Center, Stanford University, Stanford, California, USA
    Nat Med 8:500-8. 2002
    ..These results in EAE corroborate the microarray studies on MS lesions. Large-scale analysis of transcripts in MS lesions elucidates new aspects of pathology and opens possibilities for therapy...
  78. pmc A second major histocompatibility complex susceptibility locus for multiple sclerosis
    Tai Wai Yeo
    Department of Clinical Neurosciences, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
    Ann Neurol 61:228-36. 2007
    ..The possibility that other genes in the MHC independently influence susceptibility to multiple sclerosis has been suggested but remains unconfirmed...
  79. pmc Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis
    Silke Schmidt
    Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 70:708-17. 2002
    ..03), whereas a higher proportion of APOE-2 carriers exhibit a mild disease course (P=.02)...
  80. ncbi request reprint Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis
    Simon G Gregory
    Center for Human Genetics, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA
    Nat Genet 39:1083-91. 2007
    ..The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer...
  81. ncbi request reprint The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-beta
    Pablo 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...
  82. doi request reprint Neurogenetics in the Annals: dealing with complexity
    Jorge R Oksenberg
    Ann Neurol 63:A11-4. 2008
  83. pmc Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approach
    Benjamin Rhodes
    Section of Molecular Genetics and Rheumatology, Faculty of Medicine, Imperial College, Du Cane Road, London W12 0NN, UK
    Hum Genet 123:633-42. 2008
    ....
  84. pmc A high-density screen for linkage in multiple sclerosis
    Stephen Sawcer
    University of Cambridge, Department of Clinical Neuroscience, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, United Kingdom
    Am J Hum Genet 77:454-67. 2005
    ....
  85. ncbi request reprint Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping
    Stephen J Sawcer
    University of Cambridge Neurology Unit, Addenbrooke s Hospital, UK
    Hum Mol Genet 13:1943-9. 2004
    ..The extent of additional information extracted is considerable, indicating that reanalysis of existing multiplex families using these newer systems would substantially increase power...
  86. doi request reprint Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosis
    Robert 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...
  87. ncbi request reprint A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility
    David Reich
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 37:1113-8. 2005
    ..We describe here the first high-powered admixture scan, focusing on 605 African American cases and 1,043 African American controls, and report a locus on chromosome 1 that is significantly associated with multiple sclerosis...
  88. ncbi request reprint Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15
    James A Traherne
    Cambridge Institute for Medical Research, Wellcome Trust MRC Building, Cambridge, UK
    Hum Mol Genet 15:155-61. 2006
    ..The association of BTNL2 with MS observed in the African-American data set was also secondary to the primary DRB1*15 association...
  89. pmc SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach
    Jacob L McCauley
    Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
    BMC Genomics 8:266. 2007
    ..We chose annotated SNPs in the region based on location within MCSs (termed MCS-SNPs). We then obtained genotypes for 478 MCS-SNPs in 989 individuals from MS families...
  90. ncbi request reprint Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study
    Margaret A Pericak-Vance
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
    Neurogenetics 5:45-8. 2004
    ..Regions on 1p34, 3p14, and 19q13 produced lod scores >0.90 in at least one subset of the data, suggesting that these regions should be examined in more detail...
  91. ncbi request reprint Multiple susceptibility loci for multiple sclerosis
    Jonathan L Haines
    Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
    Hum Mol Genet 11:2251-6. 2002
    ..These regions can now be targeted for detailed study to identify the underlying MS susceptibility genes...
  92. pmc The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis
    Ann B Begovich
    Am J Hum Genet 76:184-7. 2005
  93. ncbi request reprint Re: GAMES issue
    Jorge R Oksenberg
    J Neuroimmunol 153:1-2. 2004
  94. ncbi request reprint Complex gene-gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes
    Alison A Motsinger
    Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, 519 Light Hall, Vanderbilt University Medical School, Nashville, TN 37232 0700, USA
    Neurogenetics 8:11-20. 2007
    ..These results suggest that significant epistasis, or gene-gene interactions, may exist even in the absence of statistically significant individual main effects...
  95. ncbi request reprint Quantitative longitudinal analysis of T cell receptor repertoire expression in HIV-infected patients on antiretroviral and interleukin-2 therapy
    Uma 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...
  96. ncbi request reprint Chromosome 7q21-22 and multiple sclerosis
    Pablo Villoslada
    J Neuroimmunol 150:1-2. 2004
  97. pmc The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research
    Matthew R Nelson
    GlaxoSmithKline, Research Triangle Park, NC 27709, USA
    Am J Hum Genet 83:347-58. 2008
    ..The genotype and demographic data from this reference sample are freely available through the NCBI database of Genotypes and Phenotypes (dbGaP)...