Research Topics
Genomes and Genes
Species | Stephen L HauserSummaryAffiliation: University of California Country: USA Publications
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Publications
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate lociDale J Hedges
Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Ave, M 860, Miami, FL 33136, USA
Mol Autism 3:2. 2012..abstract:..- 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... - 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... - SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approachJacob 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... 
B-cell depletion with rituximab in relapsing-remitting multiple sclerosisStephen L Hauser
Department of Neurology, University of California at San Francisco, San Francisco, CA 94143 0114, USA
N Engl J Med 358:676-88. 2008..There is increasing evidence that B lymphocytes are involved in the pathogenesis of multiple sclerosis, and they may be a therapeutic target. Rituximab, a monoclonal antibody, selectively targets and depletes CD20+ B lymphocytes...
Risk alleles for multiple sclerosis identified by a genomewide studyDavid 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...- 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.... - Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosisLisa 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... - 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... - Conferral of enhanced natural killer cell function by KIR3DS1 in early human immunodeficiency virus type 1 infectionBrian 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.... - 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 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... - Copy number variation in African AmericansJoseph 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... - 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.... - 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... - Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLABruce A C Cree
Department of Neurology, University of California San Francisco, USA
Arch Neurol 66:226-33. 2009.... - Ocular pathology in multiple sclerosis: retinal atrophy and inflammation irrespective of disease durationAri J Green
Multiple Sclerosis Center, Department of Neurology, University of California San Francisco, San Francisco, CA 94143, USA
Brain 133:1591-601. 2010..Deciphering the relationships between the different types of retinal pathology may aid us in understanding the factors that drive both inflammation and tissue atrophy in 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... - An update on multiple sclerosisStephen L Hauser
Department of Neurology, University of California at San Francisco, 505 Parnassus Avenue, Room M798, San Francisco, CA 94143-0114, USA
J Neurol Sci 228:193-4. 2005 - 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... - 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... - 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.... - A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01Bruce 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... - Refining the association of MHC with multiple sclerosis in African AmericansJoseph P McElroy
Department of Neurology, University of California, San Francisco, CA 94143, USA
Hum Mol Genet 19:3080-8. 2010.... - Genetics of multiple sclerosisJorge 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 - Vitamin D status is associated with relapse rate in pediatric-onset multiple sclerosisEllen 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... - 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... - 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... - Synergy or independence? Deciphering the interaction of HLA Class I and NK cell KIR alleles in early HIV-1 disease progressionJason 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 - 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... - 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.... - 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... - 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... - 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... - 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... - 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... - 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... - Neuromyelitis opticaBruce A C Cree
Department of Neurology, University of California San Francisco, USA
Semin Neurol 22:105-22. 2002..The history of NMO, its nosology, associations with other diseases, and current concepts of its pathogenesis and treatment is reviewed in this article... - 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... - Frontline: Epitope recognition on the myelin/oligodendrocyte glycoprotein differentially influences disease phenotype and antibody effector functions in autoimmune demyelinationHans Christian von Büdingen
Department of Neurology, School of Medicine, University of California San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143, USA
Eur J Immunol 34:2072-83. 2004..Because the linear and conformational antibody determinants of MOG are shared between marmosets and humans, these results are directly relevant to understanding effector mechanisms of organ damage in MS... - The human T cell response to myelin oligodendrocyte glycoprotein: a multiple sclerosis family-based studyNiklas K U Koehler
Department of Neurology, University of California, San Francisco, CA 94143, USA
J Immunol 168:5920-7. 2002..Thus, MOG-reactive T cells appear to constitute an important part of the natural T cell repertoire, a finding that could contribute to the development of autoimmunity to this protein... - Antibody responses against galactocerebroside are potential stage-specific biomarkers in multiple sclerosisTil Menge
Department of Neurology, University of California San Francisco, San Francisco, CA 94143-0114, USA
J Allergy Clin Immunol 116:453-9. 2005..This novel assay is a suitable and valuable method to increase accuracy of diagnosis and disease staging in MS... - The neurobiology of multiple sclerosis: genes, inflammation, and neurodegenerationStephen 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... - Differential impact of the CD45 juxtamembrane wedge on central and peripheral T cell receptor responsesMichelle 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... - Neurogenetics in the Annals: dealing with complexityJorge R Oksenberg
Ann Neurol 63:A11-4. 2008 - Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative studyMargaret 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... - Refining genetic associations in multiple sclerosisDavid Booth
Lancet Neurol 7:567-9. 2008 - A high-density screen for linkage in multiple sclerosisStephen 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.... - A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibilityDavid 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... - Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15James 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... - Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosisSilke 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)... - 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.... - Enhancing linkage analysis of complex disorders: an evaluation of high-density genotypingStephen 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... - Methods for high-density admixture mapping of disease genesNick 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... - A second major histocompatibility complex susceptibility locus for multiple sclerosisTai 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... - The autoimmune disease-associated IL12B and IL23R polymorphisms in multiple sclerosisAnn 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... - Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosisSimon 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... - Re: GAMES issueJorge R Oksenberg
J Neuroimmunol 153:1-2. 2004 - 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... - The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosisAnn B Begovich
Am J Hum Genet 76:184-7. 2005 - Multiple susceptibility loci for multiple sclerosisJonathan 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... - Multiple sclerosis: tip of the iceberg?Stephen L Hauser
Ann Neurol 59:11A-12A. 2006 - Restrictive and diversifying elements of the anti-myelin/oligodendrocyte glycoprotein antibody response in primate experimental allergic encephalomyelitisH Christian von Büdingen
Department of Neurology, University Hospital Zurich, 8091, Zurich, Switzerland
Immunogenetics 58:122-8. 2006..These results are the first to contribute to a better understanding of how myelin-directed and potentially destructive autoantibody responses may develop in human MS... - Natalizumab: immune effects and implications for therapyStephen L Hauser
Ann Neurol 59:731-2. 2006 - Complex gene-gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genesAlison 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... - Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive studyLisa F Barcellos
School of Public Health, Division of Epidemiology, University of California, Berkeley, CA, USA
Lancet Neurol 5:924-31. 2006..This distinct multiple-sclerosis phenotype, defined by its association with other autoimmune diseases, segregates with specific genotypes that could underlie the common susceptibility... - Recombinant therapeutics: from bench to bedside (if your health plan concurs)Stephen L Hauser
Ann Neurol 60:10A-11A. 2006..Her health care plan requires that infusion therapy be given at the hospital's infusion center, yet for various reasons, the drug was not yet approved by the formulary. She remains unable to receive the drug... - The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics researchMatthew 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)... - Natalizumab treatment for multiple sclerosis: recommendations for patient selection and monitoringLudwig Kappos
University Hospital, Basel, Switzerland
Lancet Neurol 6:431-41. 2007..Maintaining clinical vigilance allows for early suspension of natalizumab in potential cases of PML, thereby increasing the opportunity for immune reconstitution, which may improve prognosis if PML is confirmed... - Multiple lessons for multiple sclerosisStephen L Hauser
N Engl J Med 359:1838-41. 2008
Research Grants
- MECHANISMS OF EAEStephen Hauser; Fiscal Year: 2005..jacchus has found that a diverse immune response to more than one antigen appears to be responsible for the MS-like lesion, a finding that parallels emerging concepts of the pathogenesis of human MS. ..
- GENE LINKAGE STUDY OF MULTIPLE SCLEROSIS SIBLING PAIRSStephen Hauser; Fiscal Year: 2007..Collaborative ties with skillful teams, access to a formidable DNA collection, a superb research environment and suggestive preliminary results, all indicate that this project has a high chance for success. ..
- A Haplotype Map for Multiple SclerosisStephen Hauser; Fiscal Year: 2009....
- GENE LINKAGE STUDY OF MULTIPLE SCLEROSIS SIBLING PAIRSJorge R Oksenberg; Fiscal Year: 2010..Their identification will help to define the basic etiology of MS, improve risk assessment, and influence therapeutics. ..
- GENE LINKAGE STUDY OF MULTIPLE SCLEROSIS SIBLING PAIRSStephen Hauser; Fiscal Year: 2003..The collection of a large genetic repository of sibpair MS families should also prove useful as an available resource for other studies of the inherited basis of MS susceptibility. ..
- GENE LINKAGE STUDY OF MULTIPLE SCLEROSIS SIBLING PAIRSStephen Hauser; Fiscal Year: 1999..abstract_text> ..
- ANNUAL MRI, MTR AND HMRSI IN HEALTHY CONTROLS AND PPMSStephen Hauser; Fiscal Year: 2001....
- A Haplotype Map for Multiple SclerosisStephen L Hauser; Fiscal Year: 2010..Their identification will help to define the basic etiology of MS, improve risk assessment, and influence therapeutics. ..