Research Topics
Genomes and Genes | Maria KarayiorgouSummaryAffiliation: The Rockefeller University Country: USA Publications
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Publications
Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophreniaHui Liu
Human Neurogenetics Laboratory, The Rockefeller University, New York, NY 10021, USA
Proc Natl Acad Sci U S A 99:3717-22. 2002..Our results have implications for understanding the genetic basis of the 22q11-associated psychiatric phenotypes and provide further insights into the genomic instability of this region...
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse modelKimberly L Stark
Department of Psychiatry, College of Physicians and Surgeons, Columbia University, 1051 Riverside Drive, New York, New York 10032, USA
Nat Genet 40:751-60. 2008..2 microdeletion...- Networks of attention in children with the 22q11 deletion syndromeChristina Sobin
Laboratory of Human Neurogenetics, The Rockefeller University, New York, NY 10021, USA
Dev Neuropsychol 26:611-26. 2004..The implications of these findings for future neurocognitive studies of 22q11 DS children are considered... 
The molecular genetics of the 22q11-associated schizophreniaMaria Karayiorgou
Laboratory of Human Neurogenetics, The Rockefeller University, New York, NY 10021, USA
Brain Res Mol Brain Res 132:95-104. 2004..In-depth human and animal model studies of 22q11DS promise to answer critical questions relating to the devastating illness of schizophrenia, whose causes remain largely unknown...- Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia databaseMaria Karayiorgou
Human Neurogenetics Laboratory, The Rockefeller University, New York, New York 10021, USA
Am J Med Genet B Neuropsychiatr Genet 124:20-8. 2004.... - Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortexKarine Fenelon
Department of Physiology and Cellular Biophysics, Columbia University Medical Center, New York, NY 10032, USA
Proc Natl Acad Sci U S A 108:4447-52. 2011..Our results identify altered short-term plasticity as a neural substrate underlying the cognitive dysfunction and the increased risk for schizophrenia associated with the 22q11.2 microdeletions... - Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletionJun Mukai
Department of Physiology and Cellular Biophysics, Columbia University, New York, New York 10032, USA
Nat Neurosci 11:1302-10. 2008..Our analysis reveals that 22q11.2 microdeletion results in deficits in neuronal development and suggests that impaired neuronal protein palmitoylation contributes to many of these deficits... - The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disordersLiam J Drew
Department of Physiology and Cellular Biophysics, Columbia University, New York, NY 10032, USA
Int J Dev Neurosci 29:259-81. 2011..The key biological pathways disrupted by the mutation are discussed and how these changes impact the structure and function of neural circuits is described... - Akt1 deficiency affects neuronal morphology and predisposes to abnormalities in prefrontal cortex functioningWen Sung Lai
Department of Physiology and Cellular Biophysics, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
Proc Natl Acad Sci U S A 103:16906-11. 2006.... - Evidence for altered hippocampal function in a mouse model of the human 22q11.2 microdeletionLiam J Drew
Dept of Physiology and Cellular Biophysics, Columbia University, West 168th St, New York, NY 10032, USA
Mol Cell Neurosci 47:293-305. 2011..Overall, experiments performed in this 22q11.2 deletion model demonstrated deficits of various degrees across different regions of the hippocampus, which together may contribute to the increased risk of developing schizophrenia... - A mutation in mouse Disc1 that models a schizophrenia risk allele leads to specific alterations in neuronal architecture and cognitionMirna Kvajo
Department of Psychiatry, Columbia University Medical Center, 1051 Riverside Drive, New York, NY 10032, USA
Proc Natl Acad Sci U S A 105:7076-81. 2008..Our results implicate malfunction of neural circuits within the hippocampus and medial prefrontal cortex and selective deficits in WM as contributing to the genetic risk conferred by this gene... - Altered axonal targeting and short-term plasticity in the hippocampus of Disc1 mutant miceMirna Kvajo
Department of Psychiatry, Columbia University Medical Center, New York, NY 10032, USA
Proc Natl Acad Sci U S A 108:E1349-58. 2011..Our results provide support to the notion that modest disturbances of neuronal connectivity and accompanying deficits in short-term synaptic dynamics is a general feature of schizophrenia-predisposing mutations... - Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophreniaTorfi Sigurdsson
Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA
Nature 464:763-7. 2010..Our findings further suggest that impaired long-range synchrony of neural activity is one consequence of the 22q11.2 deletion and may be a fundamental component of the pathophysiology underlying schizophrenia... - Genetic variation in the 22q11 locus and susceptibility to schizophreniaHui Liu
The Rockefeller University, Human Neurogenetics Laboratory, New York, NY 10021 USA
Proc Natl Acad Sci U S A 99:16859-64. 2002..Finer-scale haplotype mapping has identified two subregions within the 1.5-Mb locus that are likely to harbor candidate schizophrenia susceptibility genes... - Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in miceMarta Paterlini
Department of Physiology and Cellular Biophysics, Columbia University College of Physicians and Surgeons, 701 West 168th Street, New York, New York 10032, USA
Nat Neurosci 8:1586-94. 2005..This interaction modulates a number of schizophrenia-related phenotypes, providing a framework for understanding the high disease risk associated with this locus, the expression of the phenotype, or both... - Analysis of prepulse inhibition in mouse lines overexpressing 22q11.2 orthologuesKimberly L Stark
Department of Psychiatry, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
Int J Neuropsychopharmacol 12:983-9. 2009..2... - Copy number variation and psychiatric disease riskRebecca J Levy
Department of Psychiatry, Columbia University Medical Center, New York, NY, USA
Methods Mol Biol 838:97-113. 2012.... 
Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approachesRuby Hsu
Department of Neuroscience, Columbia University, New York, New York, United States of America
PLoS ONE 2:e1234. 2007..NOGO Receptor 1 (RTN4R) regulates axonal growth, as well as axon regeneration after injury. The gene maps to the 22q11.2 schizophrenia susceptibility locus and is thus a strong functional and positional candidate gene...- Neuromotor deficits in children with the 22q11 deletion syndromeChristina Sobin
Rockefeller University, New York, New York, USA
Mov Disord 21:2082-9. 2006..Further studies examining the specificity of motor impairment to 22q11DS are needed... - Strong association of de novo copy number mutations with sporadic schizophreniaBin Xu
Department of Physiology and Cellular Biophysics, Columbia University, New York, New York 10032, USA
Nat Genet 40:880-5. 2008.... - Olfactory disorder in children with 22q11 deletion syndromeChristina Sobin
Laboratory of Neuroendocrinology, The Rockefeller University, New York, New York, USA
Pediatrics 118:e697-703. 2006..Despite its potential consequences, pediatric studies of impaired olfaction are rare, and odor detection in children with 22q11 deletion syndrome has not yet been examined... - Exome sequencing supports a de novo mutational paradigm for schizophreniaBin Xu
Department of Psychiatry, Columbia University, New York, New York, USA
Nat Genet 43:864-8. 2011..Our analyses suggest a major role for de novo mutations in schizophrenia as well as a large mutational target, which together provide a plausible explanation for the high global incidence and persistence of the disease... - Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorderDiana Hall
The Rockefeller University, Human Neurogenetics Laboratory, New York, NY, 10021, USA
Am J Hum Genet 73:370-6. 2003.... - Sex differences in the behavior of children with the 22q11 deletion syndromeChristina Sobin
The Rockefeller University, New York, NY, United States
Psychiatry Res 166:24-34. 2009..Categorical diagnoses do not reflect behavioral differences between male and female children with 22q11DS, and may miss significant behavior problems in 20% of affected males... - Lower prepulse inhibition in children with the 22q11 deletion syndromeChristina Sobin
Laboratory of Human Neurogenetics, Rockefeller University, New York, NY 10021, USA
Am J Psychiatry 162:1090-9. 2005..This study was conducted to determine whether preattentive processing ("sensorimotor gating") deficits are present in this population... - MicroRNAs in psychiatric and neurodevelopmental disordersBin Xu
Department of Physiology and Cellular Biophysics, Columbia University Medical Center, 630 W 168th Street, New York, NY 10032, USA
Brain Res 1338:78-88. 2010..Therefore, they may contribute to both genetic heterogeneity and phenotypic variation of psychiatric and neurodevelopmental disorders and could serve as novel therapeutic targets... - De novo gene mutations highlight patterns of genetic and neural complexity in schizophreniaBin Xu
Department of Psychiatry, Columbia University, New York, New York, USA
Nat Genet 44:1365-9. 2012..Our results help define the genomic and neural architecture of schizophrenia... - 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophreniaMaria Karayiorgou
Department of Psychiatry, Columbia University Medical Center, 1051 Riverside Drive, New York, New York 10032, USA
Nat Rev Neurosci 11:402-16. 2010..In addition to offering a deeper understanding of the effects of this genetic lesion, these findings may guide analysis of other copy-number variants associated with cognitive dysfunction and psychiatric disorders... - Extended intermarker linkage disequilibrium in the AfrikanersDiana Hall
The Rockefeller University, Human Neurogenetics Laboratory, New York, NY 10021, USA
Genome Res 12:956-61. 2002..This study strongly supports the appropriateness of the Afrikaner population for genome-wide scans that exploit LD to map common, multigenic disorders... - A comparison study of early non-psychotic deviant behavior in Afrikaner and US patients with schizophrenia or schizoaffective disorderChristina Sobin
Laboratory of Human Neurogenetics, Rockefeller University, 1230 York Avenue, Box 313, New York, NY 10021, USA
Psychiatry Res 117:113-25. 2003..Possible reasons for the association pattern differences in these two populations are considered... - Decreased phosphorylation of NMDA receptor type 1 at serine 897 in brains of patients with SchizophreniaEffat S Emamian
The Rockefeller University, Laboratory of Human Neurogenetics, New York, New York 10021, USA
J Neurosci 24:1561-4. 2004.... - Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophreniaJun Mukai
Columbia University, College of Physicians and Surgeons, Department of Physiology and Cellular Biophysics and Center for Neurobiology and Behavior, New York, New York 10032, USA
Nat Genet 36:725-31. 2004..Our results indicate that there is an unexpected connection between impaired palmitate modification of neuronal proteins and the psychiatric phenotypes associated with microdeletions of chromosome 22q11... - Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysisChristina Sobin
Laboratory of Human Neurogenetics, The Rockefeller University, New York, New York 10021, USA
Child Neuropsychol 11:39-53. 2005..Implications of these findings are considered with regard to past results... - Schizophrenia genetics: uncovering positional candidate genesMaria Karayiorgou
The Rockefeller University, Laboratory of Human Neurogenetics, New York, NY 10021, USA
Eur J Hum Genet 14:512-9. 2006..Several of these findings hold considerable promise both for understanding the neuropathology of this brain disorder, the causes of which remain a mystery, but also for development of novel, mechanism-based treatments for the patients... - Development of animal models for schizophreniaP Alexander Arguello
Department of Neuroscience, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Dis Model Mech 3:22-6. 2010..This has made it possible to engineer genetically faithful, and thus etiologically valid, animal models of this schizophrenia susceptibility locus... - Convergent evidence for impaired AKT1-GSK3beta signaling in schizophreniaEffat S Emamian
The Rockefeller University, Laboratory of Human Neurogenetics, 1230 York Avenue, Box 313, New York, New York 10021, USA
Nat Genet 36:131-7. 2004.... - Disc1 is mutated in the 129S6/SvEv strain and modulates working memory in miceHiroko Koike
Human Neurogenetics Laboratory, The Rockefeller University, 1230 York Avenue, New York, NY 10021, USA
Proc Natl Acad Sci U S A 103:3693-7. 2006.... - The genetic architecture of schizophrenia: new mutations and emerging paradigmsLaura Rodriguez-Murillo
Department of Psychiatry, Columbia University, New York, New York 10032, USA
Annu Rev Med 63:63-80. 2012..2 locus, has highlighted a de novo mutational paradigm as a major component of the genetic architecture of schizophrenia. Recent progress is bringing us closer to earlier intervention and new therapeutic targets... - MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunctionBin Xu
Department of Physiology and Cellular Biophysics, Columbia University, New York, NY, USA
Neurobiol Dis 46:291-301. 2012..The existing evidence provides useful hypotheses for further investigation as well as important clues for identifying novel therapeutic targets... - Diverse types of genetic variation converge on functional gene networks involved in schizophreniaSarah R Gilman
1 Center for Computational Biology and Bioinformatics, Columbia University, New York, New York, USA 2 Department of Biomedical Informatics, Columbia University, New York, New York, USA
Nat Neurosci 15:1723-8. 2012.... - Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1Goncalo R Abecasis
Department of Biostatistics, University of Michigan, Ann Arbor, MI, USA
Am J Hum Genet 74:403-17. 2004..This is the first time a UPD has been described in a patient with schizophrenia, lending further support to involvement of chromosome 1 in schizophrenia susceptibility in the Afrikaners... - Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunitDavid J Gerber
Howard Hughes Medical Institute, RIKEN Massachusetts Institute of Technology Neuroscience Research Center, The Picower Center for Learning and Memory, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
Proc Natl Acad Sci U S A 100:8993-8. 2003..Our results identify PPP3CC, located at 8p21.3, as a potential schizophrenia susceptibility gene and support the proposal that alterations in calcineurin signaling contribute to schizophrenia pathogenesis... - Reduced natriuretic response to acute sodium loading in COMT gene deleted miceCecilia Odlind
Dept of Medical Cell Biology, University of Uppsala, Biomedical Centre, Uppsala, Sweden
BMC Physiol 2:14. 2002..After acute intravenous isotonic sodium loading, renal function was followed... - Resistance to salt-induced hypertension in catechol-O-methyltransferase-gene-disrupted miceTeemu Helkamaa
Institute of Biomedicine, Pharmacology, University of Helsinki, Finland
J Hypertens 21:2365-74. 2003..Previous studies have indicated that catechol-O-methyltransferase (COMT) can modulate renal dopaminergic tone... - Genes for schizophreniaMaria Karayiorgou
Lancet 361:1828-9; author reply 1829-30. 2003 - Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studiesSusan Service
Center for Neurobehavioral Genetics, University of California, Los Angeles, California 90095, USA
Nat Genet 38:556-60. 2006..Young isolates known to have had relatively few founders show particularly extensive LD with very few holes; these populations offer substantial advantages for genome-wide association mapping... - Exploratory and habituation phenotype of heterozygous and homozygous COMT knockout miceDaniela Babovic
Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland
Behav Brain Res 183:236-9. 2007..Heterozygous COMT deletion is associated with a distinctive phenotype. This differs from that which we have reported previously for heterozygous deletion of the schizophrenia risk gene neuregulin-1...