Maria Karayiorgou

Summary

Affiliation: The Rockefeller University
Country: USA

Publications

  1. pmc Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia
    Hui Liu
    Human Neurogenetics Laboratory, The Rockefeller University, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 99:3717-22. 2002
  2. doi request reprint Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
    Kimberly 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
  3. pmc Networks of attention in children with the 22q11 deletion syndrome
    Christina Sobin
    Laboratory of Human Neurogenetics, The Rockefeller University, New York, NY 10021, USA
    Dev Neuropsychol 26:611-26. 2004
  4. ncbi request reprint The molecular genetics of the 22q11-associated schizophrenia
    Maria Karayiorgou
    Laboratory of Human Neurogenetics, The Rockefeller University, New York, NY 10021, USA
    Brain Res Mol Brain Res 132:95-104. 2004
  5. ncbi request reprint Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database
    Maria Karayiorgou
    Human Neurogenetics Laboratory, The Rockefeller University, New York, New York 10021, USA
    Am J Med Genet B Neuropsychiatr Genet 124:20-8. 2004
  6. pmc The pattern of cortical dysfunction in a mouse model of a schizophrenia-related microdeletion
    Karine Fenelon
    Departments of Physiology and Cellular Biophysics, Psychiatry, and Neuroscience, Columbia University Medical Center, New York, New York 10032, Integrated Program in Cellular, Molecular, and Biophysical Studies, Columbia University, New York, New York 10032, New York State Psychiatric Institute, New York, New York 10032, The Simons Foundation Autism Research Initiative, New York, New York 10010, and Molecular Neurobiology Program, Skirball Institute, Department of Physiology and Neuroscience, New York University School of Medicine, New York, New York 10016
    J Neurosci 33:14825-39. 2013
  7. pmc Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex
    Karine 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
  8. pmc The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders
    Liam J Drew
    Department of Physiology and Cellular Biophysics, Columbia University, New York, NY 10032, USA
    Int J Dev Neurosci 29:259-81. 2011
  9. pmc Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion
    Jun Mukai
    Department of Physiology and Cellular Biophysics, Columbia University, New York, New York 10032, USA
    Nat Neurosci 11:1302-10. 2008
  10. pmc Akt1 deficiency affects neuronal morphology and predisposes to abnormalities in prefrontal cortex functioning
    Wen 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

Collaborators

Detail Information

Publications50

  1. pmc Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia
    Hui 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...
  2. doi request reprint Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
    Kimberly 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...
  3. pmc Networks of attention in children with the 22q11 deletion syndrome
    Christina 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...
  4. ncbi request reprint The molecular genetics of the 22q11-associated schizophrenia
    Maria 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...
  5. ncbi request reprint Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database
    Maria Karayiorgou
    Human Neurogenetics Laboratory, The Rockefeller University, New York, New York 10021, USA
    Am J Med Genet B Neuropsychiatr Genet 124:20-8. 2004
    ....
  6. pmc The pattern of cortical dysfunction in a mouse model of a schizophrenia-related microdeletion
    Karine Fenelon
    Departments of Physiology and Cellular Biophysics, Psychiatry, and Neuroscience, Columbia University Medical Center, New York, New York 10032, Integrated Program in Cellular, Molecular, and Biophysical Studies, Columbia University, New York, New York 10032, New York State Psychiatric Institute, New York, New York 10032, The Simons Foundation Autism Research Initiative, New York, New York 10010, and Molecular Neurobiology Program, Skirball Institute, Department of Physiology and Neuroscience, New York University School of Medicine, New York, New York 10016
    J Neurosci 33:14825-39. 2013
    ..They also provide insight into the link between micro-RNA dysregulation and genetic liability to schizophrenia and cognitive dysfunction. ..
  7. pmc Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex
    Karine 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...
  8. pmc The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders
    Liam 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...
  9. pmc Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion
    Jun 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...
  10. pmc Akt1 deficiency affects neuronal morphology and predisposes to abnormalities in prefrontal cortex functioning
    Wen 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
    ....
  11. pmc Evidence for altered hippocampal function in a mouse model of the human 22q11.2 microdeletion
    Liam 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...
  12. pmc A mutation in mouse Disc1 that models a schizophrenia risk allele leads to specific alterations in neuronal architecture and cognition
    Mirna 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...
  13. pmc Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion
    Bin Xu
    Department of Psychiatry, College of Physicians and Surgeons, Columbia University, 1051 Riverside Drive, New York, NY 10032, USA
    Cell 152:262-75. 2013
    ..Reduction of miR-185 also has milder age- and region-specific effects on the expression of some Golgi-related genes. Our findings illuminate the contribution of microRNAs in psychiatric disorders and cognitive dysfunction...
  14. pmc Altered axonal targeting and short-term plasticity in the hippocampus of Disc1 mutant mice
    Mirna 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...
  15. pmc Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia
    Torfi 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...
  16. pmc Genetic variation in the 22q11 locus and susceptibility to schizophrenia
    Hui 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...
  17. pmc De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
    Bin Xu
    Department of Psychiatry, Columbia University, New York, NY, USA
    Nat Genet 44:1365-9. 2012
    ..Our results help define the genomic and neural architecture of schizophrenia...
  18. doi request reprint Analysis of prepulse inhibition in mouse lines overexpressing 22q11.2 orthologues
    Kimberly 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...
  19. ncbi request reprint Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice
    Marta 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...
  20. doi request reprint Copy number variation and psychiatric disease risk
    Rebecca J Levy
    Department of Psychiatry, Columbia University Medical Center, New York, NY, USA
    Methods Mol Biol 838:97-113. 2012
    ....
  21. pmc Nogo Receptor 1 (RTN4R) as a candidate gene for schizophrenia: analysis using human and mouse genetic approaches
    Ruby 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...
  22. pmc Neuromotor deficits in children with the 22q11 deletion syndrome
    Christina 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...
  23. pmc Olfactory disorder in children with 22q11 deletion syndrome
    Christina 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...
  24. doi request reprint Strong association of de novo copy number mutations with sporadic schizophrenia
    Bin Xu
    Department of Physiology and Cellular Biophysics, Columbia University, New York, New York 10032, USA
    Nat Genet 40:880-5. 2008
    ....
  25. pmc Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder
    Diana Hall
    The Rockefeller University, Human Neurogenetics Laboratory, New York, NY, 10021, USA
    Am J Hum Genet 73:370-6. 2003
    ....
  26. pmc Exome sequencing supports a de novo mutational paradigm for schizophrenia
    Bin 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...
  27. pmc MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction
    Bin 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...
  28. pmc Sex differences in the behavior of children with the 22q11 deletion syndrome
    Christina 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...
  29. pmc Lower prepulse inhibition in children with the 22q11 deletion syndrome
    Christina 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...
  30. pmc MicroRNAs in psychiatric and neurodevelopmental disorders
    Bin 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...
  31. pmc Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
    Sarah R Gilman
    Center for Computational Biology and Bioinformatics, Columbia University, New York, New York, USA
    Nat Neurosci 15:1723-8. 2012
    ....
  32. pmc C9ORF72 repeat expansions not detected in a group of patients with schizophrenia
    Edward D Huey
    Taub Institute for Research on Alzheimer s Disease and the Aging Brain, The Gertrude H Sergievsky Center, Columbia University, New York, NY 10032, USA
    Neurobiol Aging 34:1309.e9-10. 2013
    ..None of the subjects with schizophrenia had the pathogenic expansion. C9ORF72 repeat expansions either do not cause schizophrenia, or do so rarely (less than 1% of cases)...
  33. pmc A comparison study of early non-psychotic deviant behavior in Afrikaner and US patients with schizophrenia or schizoaffective disorder
    Christina 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...
  34. pmc Extended intermarker linkage disequilibrium in the Afrikaners
    Diana 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...
  35. ncbi request reprint Decreased phosphorylation of NMDA receptor type 1 at serine 897 in brains of patients with Schizophrenia
    Effat S Emamian
    The Rockefeller University, Laboratory of Human Neurogenetics, New York, New York 10021, USA
    J Neurosci 24:1561-4. 2004
    ....
  36. pmc 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia
    Maria 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...
  37. ncbi request reprint Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia
    Jun 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...
  38. pmc Development of animal models for schizophrenia
    P 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...
  39. ncbi request reprint Schizophrenia genetics: uncovering positional candidate genes
    Maria 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...
  40. pmc Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis
    Christina 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...
  41. ncbi request reprint Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia
    Effat 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
    ....
  42. pmc Disc1 is mutated in the 129S6/SvEv strain and modulates working memory in mice
    Hiroko 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
    ....
  43. doi request reprint The genetic architecture of schizophrenia: new mutations and emerging paradigms
    Laura 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...
  44. pmc Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit
    David 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...
  45. pmc Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1
    Goncalo 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...
  46. ncbi request reprint Resistance to salt-induced hypertension in catechol-O-methyltransferase-gene-disrupted mice
    Teemu 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...
  47. ncbi request reprint Genes for schizophrenia
    Maria Karayiorgou
    Lancet 361:1828-9; author reply 1829-30. 2003
  48. ncbi request reprint Exploratory and habituation phenotype of heterozygous and homozygous COMT knockout mice
    Daniela 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...
  49. ncbi request reprint Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
    Susan 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...
  50. pmc Reduced natriuretic response to acute sodium loading in COMT gene deleted mice
    Cecilia 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...