Research Topics
Genomes and Genes
| Daniel GeschwindSummaryAffiliation: University of California Country: USA Publications
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Detail Information
Publications
Transcriptome signature of the adult mouse choroid plexusFernanda Marques
Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Campus Gualtar, 4710 057 Braga, Portugal
Fluids Barriers CNS 8:10. 2011..abstract:..- The choroid plexus response to a repeated peripheral inflammatory stimulusFernanda Marques
Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Campus Gualtar, 4710 057 Braga, Portugal
BMC Neurosci 10:135. 2009..As part of the barriers that separate the blood from the brain, the choroid plexus conveys inflammatory immune signals into the brain, largely through alterations in the composition of the cerebrospinal fluid... - Heritability of lobar brain volumes in twins supports genetic models of cerebral laterality and handednessDaniel H Geschwind
Program in Neurogenetics, Department of Neurology, University of California School of Medicine, 710 Westwood Plaza, Los Angeles, CA 90095 1769, USA
Proc Natl Acad Sci U S A 99:3176-81. 2002.... 
Autism spectrum disorders: developmental disconnection syndromesDaniel H Geschwind
Program in Neurogenetics, Department of Neurology and Semel Institute, David Geffen School of Medicine at University of California Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA
Curr Opin Neurobiol 17:103-11. 2007..This concept of developmental disconnection can accommodate the specific neurobehavioral features that are observed in autism, their emergence during development, and the heterogeneity of autism etiology, behaviors and cognition...
Neuroscience in the era of functional genomics and systems biologyDaniel H Geschwind
Program in Neurogenetics and Neurobehavioural Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, Los Angeles, California 90095, USA
Nature 461:908-15. 2009..Methods for network analysis and systems biology offer the promise of integrating these multiple levels of data, connecting molecular pathways to nervous system function...- DNA microarrays: translation of the genome from laboratory to clinicDaniel H Geschwind
Program in Neurogenetics, Department of Neurology, and the Center for Neurobehavioral Genetics, Neuropsychiatric Institute, The David Geffen School of Medicine, University of California, Los Angeles, California, USA
Lancet Neurol 2:275-82. 2003..Progress in these studies will translate into array-based disease classification schemes and help optimise therapy for individual patients based on gene expression patterns or their genetic background... - Autism: searching for coherenceDaniel Geschwind
Neurogenetics Program, Department of Neurology and Center for Autism Research and Treatment, Geffen School of Medicine at UCLA, Los Angeles, California, USA
Biol Psychiatry 62:949-50. 2007 - GENSAT: a genomic resource for neuroscience researchDan Geschwind
UCLA Department of Neurology, 710 Westwood Plaza, Los Angeles, California, USA
Lancet Neurol 3:82. 2004 - Autism: many genes, common pathways?Daniel H Geschwind
Neurogenetics Program, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Cell 135:391-5. 2008..Unifying principles among cases of autism are likely to be at the level of brain circuitry in addition to molecular pathways... - Tau phosphorylation, tangles, and neurodegeneration: the chicken or the egg?Daniel H Geschwind
The Neuropsychiatric Institute, David Geffen School of Medicine, University of California, Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095, USA
Neuron 40:457-60. 2003..Now, several animal models and data from human patients provide converging evidence that aberrant tau phosphorylation can cause a neurodegenerative phenotype similar to that seen in human neurodegenerative diseases... - Identification and characterization of novel developmentally regulated proteins in rat spinal cordD H Geschwind
Reed Neurological Research Center, Department of Neurology, UCLA School of Medicine, USA
Brain Res Dev Brain Res 97:62-75. 1996..This expression pattern, coupled with its recently discovered homology to two proteins implicated in axon pathfinding in the chick and nematode [5,3], suggests that TOAD-64 may have a fundamental role in axon pathfinding... - The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxiaD H Geschwind
Department of Neurology, University of California, Los Angeles, School of Medicine, 90095 1769, USA
Am J Hum Genet 60:842-50. 1997.... - Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarrayD H Geschwind
Department of Neurology, UCLA School of Medicine 90095, USA
Dev Genet 23:215-29. 1998.... - Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)D H Geschwind
Neurogenetics Program, UCLA School of Medicine, Los Angeles, CA 90095 1769, USA
Am J Hum Genet 65:764-72. 1999..3-cM region by a recombination observed in a patient with probable affected status. The age at onset appeared to be decreasing by an average of >20 years with each transmission, which is consistent with genetic anticipation... - Neurobehavioral phenotype of Klinefelter syndromeD H Geschwind
Department of Neurology and Program in Neurogenetics, UCLA School of Medicine, Los Angeles, California90095 1769, USA
Ment Retard Dev Disabil Res Rev 6:107-16. 2000..1997; Geschwind et al., 1998]. Furthermore, the interaction of genetic factors and hormonal influences in the cognitive phenotypes described remains an unexplored area for future investigation. MRDD Research Reviews 2000;6:117-124... - A genetic analysis of neural progenitor differentiationD H Geschwind
Neurogenetics Program, UCLA School of Medicine, Los Angeles, CA 90095, USA
Neuron 29:325-39. 2001..This combination of methods demonstrates the power of using custom microarrays derived from RDA-subtracted libraries for both gene discovery and gene expression analysis in the central nervous system... - Sharing gene expression data: an array of optionsD H Geschwind
Department of Neurology, University of California, Los Angeles, School of Medicine, 710 Westwood Plaza, Los Angeles, California 90095 1769, USA
Nat Rev Neurosci 2:435-8. 2001..These challenges are surmountable, and various sharing formats are possible. Centralized non-commercial databases are being developed to facilitate this process... - Molecular approaches to cerebral laterality: development and neurodegenerationD H Geschwind
Department of Neurology, University of California at Los Angeles, Los Angeles, California 90095 1769, USA
Am J Med Genet 101:370-81. 2001..Most of these data are preliminary and the models presented are highly speculative, reflecting the primitive stage of work defining the molecular basis of cerebral asymmetry... - Dementia and neurodevelopmental predisposition: cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementiaD H Geschwind
Department of Neurology, University of California at Los Angeles School of Medicine, 90095 1769, USA
Ann Neurol 50:741-6. 2001.... - FACS-array profiling of striatal projection neuron subtypes in juvenile and adult mouse brainsMary Kay Lobo
Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, Department of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, 90095, USA
Nat Neurosci 9:443-52. 2006..Our study provides a general approach for profiling cell type-specific gene expression in the mature mammalian brain and identifies a set of genes critical to the function and dysfunction of the striatal projection neuron circuit... - Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interactionIkuko Teramitsu
Interdepartmental Programs in Molecular, Cellular, and Integrative Physiology, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
J Neurosci 24:3152-63. 2004..The specific colocalization of FoxP1 and FoxP2 found in several structures in the bird and human brain predicts that mutations in FOXP1 could also be related to speech disorders... - Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegenerationGiovanni Coppola
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine UCLA, 710 Westwood Plaza, Los Angeles, CA 90095, USA
Neurobiol Dis 22:302-11. 2006..The identification of a core set of genes changing early in the FRDA pathogenesis can be a useful tool in both clarifying the disease process and in evaluating new therapeutic strategies... - Association of GSK3B with Alzheimer disease and frontotemporal dementiaBarbara A J Schaffer
Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 2506 Gonda, 695 Charles E Young Dr S, Los Angeles, CA 90095 1761, USA
Arch Neurol 65:1368-74. 2008..As a known tau kinase, GSK3B is a promising candidate gene in the remaining cases of FTD and in AD, for which tau mutations have not been found... - Advances in autism genetics: on the threshold of a new neurobiologyBrett S Abrahams
Neurology Department, and Semel Institute for Neuroscience and Behaviour, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095 1769 USA
Nat Rev Genet 9:341-55. 2008..Systems biology approaches, including array-based expression profiling, are poised to provide additional insights into this group of disorders, in which heterogeneity, both genetic and phenotypic, is emerging as a dominant theme... - Global analysis of gene expression in neural progenitors reveals specific cell-cycle, signaling, and metabolic networksStanislav L Karsten
Department of Neurology, UCLA School of Medicine, 710 Westwood Plaza, Los Angeles, CA 90095-1769, USA
Dev Biol 261:165-82. 2003..We propose a putative network of gene expression linking cell cycle control to cell fate pathways, providing a framework for further investigations of neural stem cell proliferation and differentiation... - A genomic screen for modifiers of tauopathy identifies puromycin-sensitive aminopeptidase as an inhibitor of tau-induced neurodegenerationStanislav L Karsten
Program in Neurogenetics, Department of Neurology, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Neuron 51:549-60. 2006..Further investigation is warranted in defining the role of PSA and other genes identified here as potential therapeutic targets in tauopathy... - Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirdsS Carmen Panaitof
Department of Physiological Science, University of California, Los Angeles, California 90095, USA
J Comp Neurol 518:1995-2018. 2010..Ongoing functional work will provide important insights into the relationship between Cntnap2 and vocal communication in songbirds and thereby clarify mechanisms at play in disorders of human cognition and language... - Genetic analysis of anterior posterior expression gradients in the developing mammalian forebrainLili C Kudo
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA
Cereb Cortex 17:2108-22. 2007..These data provide an important set of new candidates for studies of cortical patterning and maturation... - Identification of differentially expressed proteins in murine embryonic and postnatal cortical neural progenitorsLorelei D Shoemaker
Pasarow Mass Spectrometry Laboratory, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
PLoS ONE 5:e9121. 2010..The study of NSPC would be greatly facilitated by the identification of additional proteins that mediate their function and that would distinguish amongst different progenitor populations... - Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genesMaja Bucan
Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, United States of America
PLoS Genet 5:e1000536. 2009..That hundreds of distinct rare variants were each seen only once further highlights complexity in the ASDs and points to the continued need for larger cohorts... - Identification of a Hoxd10-regulated transcriptional network and combinatorial interactions with Hoxa10 during spinal cord developmentEva Hedlund
Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
J Neurosci Res 75:307-19. 2004.... - Apolipoprotein E genotype is associated with temporal and hippocampal atrophy rates in healthy elderly adults: a tensor-based morphometry studyPo H Lu
Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7226, USA
J Alzheimers Dis 23:433-42. 2011..Possession of the ε4 allele is associated with greater temporal and hippocampal volume reduction well before the onset of cognitive deficits... - Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brainElizabeth Spiteri
Program in Neurogenetics, Department of Neurology, University of California Los Angeles, Los Angeles, CA 90095, USA
Am J Hum Genet 81:1144-57. 2007.... - Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxiaGiovanni Coppola
Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
Hum Mol Genet 18:2452-61. 2009..Finally, we show that genetic modulation of the PPARgamma pathway affects frataxin levels in vitro, supporting PPARgamma as a novel therapeutic target in FRDA... - Gene expression study on peripheral blood identifies progranulin mutationsGiovanni Coppola
Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
Ann Neurol 64:92-6. 2008..This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease... 
Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferationIchiro Nakano
Department of Pharmacology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, CA 90095, USA
J Cell Biol 170:413-27. 2005..These findings indicate that MELK is necessary for proliferation of embryonic and postnatal MNP and suggest that it regulates the transition from GFAP-expressing progenitors to rapid amplifying progenitors in the postnatal brain...- Gene expression analysis of neural cells and tissues using DNA microarraysStanislav L Karsten
David Geffen School of Medicine at UCLA, Los Angeles, California, USA
Curr Protoc Neurosci . 2008.... - Advances in autismDaniel H Geschwind
Program in Neurogenetics, Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1761, USA
Annu Rev Med 60:367-80. 2009..Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research... - Association of common variants in the Joubert syndrome gene (AHI1) with autismAna I Alvarez Retuerto
Center for Autism Research and Treatment Semel Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Hum Mol Genet 17:3887-96. 2008..These data suggest a role for AHI1 in common disorders affecting human cognition and behavior... - Neural progenitor genes. Germinal zone expression and analysis of genetic overlap in stem cell populationsMathew C Easterday
Interdepartmental Program for Neuroscience, UCLA, School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
Dev Biol 264:309-22. 2003..Taken together, these studies identify many genes not previously associated with neural progenitor cell biology and also provide a rational scheme for stratification of microarray data for functional analysis... - A systems level analysis of transcriptional changes in Alzheimer's disease and normal agingJeremy A Miller
Center for Neurobehavioral Genetics, University of California, Los Angeles, Los Angeles, California 90095 1769, USA
J Neurosci 28:1410-20. 2008..Finally, we found that presenilin 1 (PSEN1) is highly coexpressed with canonical myelin proteins, suggesting a role for PSEN1 in aspects of glial-neuronal interactions related to neurodegenerative processes... - Genomic profiles of damage and protection in human intracerebral hemorrhageS Thomas Carmichael
Department of Neurology, Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
J Cereb Blood Flow Metab 28:1860-75. 2008..These inflammatory and anti-inflammatory networks interact at several key points in neutrophil signaling, apoptotic cell death, and protease responses, and indicate that secondary damage in ICH activates opposing molecular systems... - Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneMaricela Alarcon
UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Am J Hum Genet 82:150-9. 2008..Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures... - Out FOXing Parkinson disease: where development meets neurodegenerationEric M Wexler
Division of Geriatric Psychiatry and the Program in Neurobehavioral Genetics, University of California at Los Angeles, Los Angeles, California, United States of America
PLoS Biol 5:e334. 2007 - Large-scale microarray gene expression analysis in discrete electrophysiologically identified neuronal clustersAnatol Bragin
Department of Neurology, Seizure Disorder Center, David Geffen School of Medicine at UCLA, 710 Westwood Plaza, Los Angeles, CA 90095 1769, USA
J Neurosci Methods 133:49-55. 2004.... - Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesisJoanna C Jen
Department of Neurology, University of California, Los Angeles, CA 90095, USA
Science 304:1509-13. 2004..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing... - Apolipoprotein E affects both myelin breakdown and cognition: implications for age-related trajectories of decline into dementiaGeorge Bartzokis
Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
Biol Psychiatry 62:1380-7. 2007..Apolipoprotein E (ApoE) 4 allele is the second most important AD risk factor. We tested the hypothesis that ApoE4 accelerates age-related slowing in CPS through the process of myelin breakdown... - Functional organization of the transcriptome in human brainMichael C Oldham
Interdepartmental Program for Neuroscience, University of California Los Angeles, Los Angeles, California 90095, USA
Nat Neurosci 11:1271-82. 2008..Our findings provide a new foundation for neurogenetic inquiries by revealing a robust and previously unrecognized organization to the human brain transcriptome... - Thresholding rules for recovering a sparse signal from microarray experimentsChiara Sabatti
Department of Human Genetics, UCLA, 695 Charles Young Dr South, Los Angeles, CA 90095 7088, USA
Math Biosci 176:17-34. 2002..Given the amount of information actually available, the thresholding rule described provides a reasonable estimator for the change in expression of any gene in two compared cell lines... - Effects of risk genes on BOLD activation in presymptomatic carriers of familial Alzheimer's disease mutations during a novelty encoding taskJohn M Ringman
Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, CA 90095, USA
Cereb Cortex 21:877-83. 2011..Our findings of increased fMRI activation associated with APOE genotype but not with FAD mutations suggest that APOE exerts an effect on the BOLD signal that is not readily explained as a compensatory phenomenon... - An evaluation of tyramide signal amplification and archived fixed and frozen tissue in microarray gene expression analysisStanislav L Karsten
Department of Neurology, Program in Neurogenetics, UCLA School of Medicine, 710 Westwood Plaza, Los Angeles, CA 90095-1769, USA
Nucleic Acids Res 30:E4. 2002..Consistent results are more easily obtainable using ethanol-fixed tissues, whereas formalin-fixed tissue does not typically provide a useful substrate for cDNA synthesis and labeling... - Connecting genes to brain in the autism spectrum disordersBrett S Abrahams
Neurogenetics Program, Neurology Department, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095 1769, USA
Arch Neurol 67:395-9. 2010..Understanding genetic data within an anatomical context will be critical to explain how individual risk factors operate to shape phenotypic presentation in patients... - Disruption of astrocyte STAT3 signaling decreases mitochondrial function and increases oxidative stress in vitroTheodore A Sarafian
Department of Neurobiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America
PLoS ONE 5:e9532. 2010..We have recently shown that STAT3 is an important regulator of astrocyte reactivity after spinal cord injury in vivo[1]... - Prevalent iron metabolism gene variants associated with increased brain ferritin iron in healthy older menGeorge Bartzokis
Department of Psychiatry and Biobehavioral Sciences, The David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 6968, USA
J Alzheimers Dis 20:333-41. 2010..Clarifying mechanisms of brain iron accumulation may help identify novel interventions for age-related neurodegenerative diseases... - Replication of autism linkage: fine-mapping peak at 17q21Rita M Cantor
Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095 7088, USA
Am J Hum Genet 76:1050-6. 2005..Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21... - Association between human mu-opioid receptor gene polymorphism, pain tolerance, and opioid addictionPeggy Compton
Acute Care Section, UCLA School of Nursing, Los Angeles, California 90095 6918, USA
Am J Med Genet B Neuropsychiatr Genet 121:76-82. 2003.... - Endogenous Wnt signaling maintains neural progenitor cell potencyEric M Wexler
Department of Psychiatry, The Semel Institute for Neuroscience and Human Behavior, Los Angeles, CA 90024 1759, USA
Stem Cells 27:1130-41. 2009..In sum, this study establishes that autonomous Wnt signaling is a conserved feature of the neurogenic niche that preserves the delicate balance between NSC maintenance and differentiation... - Working memory and relational reasoning in Klinefelter syndromeChristina L Fales
Department of Psychology, University of California, Los Angeles, California 90095 1563, USA
J Int Neuropsychol Soc 9:839-46. 2003..These results suggest that men with KS have intact nonverbal reasoning abilities, but that a difficulty in encoding verbal information into working memory may underlie their executive and linguistic impairments... - Wnt-pathway activation during the early stage of neurodegeneration in FTDP-17 miceMartina Wiedau-Pazos
Department of Neurology, David Geffen School of Medicine at UCLA, 635 Charles E Young Drive South, Los Angeles, CA 90095, USA
Neurobiol Aging 30:14-21. 2009..We demonstrate that this induces downstream Wnt signaling via the activation of nuclear transcription factors associated with beta-catenin, suggesting that Wnt-pathway activation is an early feature of the neurodegenerative process... - Microarrays and the microscope: balancing throughput with resolutionGiovanni Coppola
Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA
J Physiol 575:353-9. 2006..Here we review representative examples of currently available methods that allow high resolution and specificity in brain microarray studies, while maintaining the goal of comprehensive, high-throughput analysis... - Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathwaysYuhei Nishimura
Center for Autism Research and Treatment, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
Hum Mol Genet 16:1682-98. 2007..These results provide evidence that blood derived lymphoblastoid cells gene expression is likely to be useful for identifying etiological subsets of autism and exploring its pathophysiology... - Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literatureRoongroj Bhidayasiri
Department of Neurology, UCLA Medical Center, Los Angeles, Calif, USA
Arch Neurol 62:1865-9. 2005..Late-onset FA (LOFA) is defined as onset after age 25 years... - Apolipoprotein E genotype and age-related myelin breakdown in healthy individuals: implications for cognitive decline and dementiaGeorge Bartzokis
Department of Neurology, The David Geffen School of Medicine at UCLA, USA
Arch Gen Psychiatry 63:63-72. 2006..This may result in a progressive "disconnection" of widely distributed neural networks that may underlie the age risk factor for AD... - Human wild-type tau interacts with wingless pathway components and produces neurofibrillary pathology in DrosophilaGeorge R Jackson
Neurogenetics Program, Department of Neurology, University of California Los Angeles, School of Medicine, 710 Westwood Plaza, 90095, USA
Neuron 34:509-19. 2002..The genetic system we have established provides a powerful reagent for identification of novel modifiers of tau-induced neurodegeneration that may serve as future therapeutic targets... - Singing mice, songbirds, and more: models for FOXP2 function and dysfunction in human speech and languageStephanie A White
Department of Physiological Science, University of California, Los Angeles, California 90095, USA
J Neurosci 26:10376-9. 2006..Below, we describe genetic through behavioral techniques used currently to investigate FoxP2 in birds, rodents, and humans for discovery of the neural bases of vocal learning and language... - Evidence for sex-specific risk alleles in autism spectrum disorderJennifer L Stone
Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
Am J Hum Genet 75:1117-23. 2004..01). These results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases... - Middle-aged children of Alzheimer parents, a pilot study: stable neurocognitive performance at 20-year follow-upLissy F Jarvik
University of California, Los Angeles UCLA, Department of Psychiatry and Biobehavioral Sciences and Neuropsychiatric Institute and Hospital, Los Angeles, California 90095 1759, USA
J Geriatr Psychiatry Neurol 18:187-91. 2005.... - Diffusion tensor imaging in preclinical and presymptomatic carriers of familial Alzheimer's disease mutationsJohn M Ringman
UCLA Department of Neurology, Alzheimer s Disease Research Center, 10911 Weyburn Ave, Suite 200, Los Angeles, CA 90095 7226, USA
Brain 130:1767-76. 2007..Decreased FA in of the columns of the fornix is particularly robust in early FAD and may provide a biomarker for early disease in sporadic Alzheimer's disease... - Expression patterns of epidermal growth factor receptor and fibroblast growth factor receptor 1 mRNA in fetal human brainLijuan Fu
Department of Neurology, University of California, Los Angeles School of Medicine, Los Angeles, California 90095, USA
J Comp Neurol 462:265-73. 2003..The current study suggests that HEGFR and HFGFR1 are likely to play different roles during human brain development, but that these roles will be similar to those observed in the rodent brain... - Progress in realizing the promise of microarrays in systems neurobiologyJoseph D Dougherty
Interdepartmental Program in the Neurosciences, University of California at Los Angeles, Los Angeles, CA 90095, USA
Neuron 45:183-5. 2005..We discuss these findings and the implications of this development for both systems and molecular neuroscience... - Human-specific transcriptional regulation of CNS development genes by FOXP2Genevieve Konopka
Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
Nature 462:213-7. 2009..Because FOXP2 has an important role in speech and language in humans, the identified targets may have a critical function in the development and evolution of language circuitry in humans... - Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkageSarah J Spence
Department of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, California 90095, USA
Am J Med Genet B Neuropsychiatr Genet 141:591-8. 2006..However, the inconsistencies in regions identified across studies highlight the importance of increasing sample sizes to provide adequate power to test replications in independent samples... - Microarray platforms: introduction and application to neurobiologyStanislav L Karsten
Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles 90095, USA
Int Rev Neurobiol 60:1-23. 2004 - Wnt genes define distinct boundaries in the developing human brain: implications for human forebrain patterningA Abu-Khalil
Program in Neurogenetics, Neurology Department, David Geffen School of Medicine at University of California at Los Angeles, Los Angeles, California 90095 1769, USA
J Comp Neurol 474:276-88. 2004.... - Conservation and evolution of gene coexpression networks in human and chimpanzee brainsMichael C Oldham
Interdepartmental Program for Neuroscience, Program in Neurogenetics, and Semel Institute, David Geffen School of Medicine, Los Angeles, CA 90095-6814, USA
Proc Natl Acad Sci U S A 103:17973-8. 2006..Our results provide insights into the molecular bases of primate brain organization and demonstrate the general utility of weighted gene coexpression network analysis... - PTEN negatively regulates neural stem cell self-renewal by modulating G0-G1 cell cycle entryMatthias Groszer
Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 103:111-6. 2006..Therefore, loss of PTEN leads to cell physiological changes, which collectively are sufficient to increase the pool of self-renewing neural stem cells and promote their escape from the homeostatic mechanisms of proliferation control... - Phosphoserine phosphatase is expressed in the neural stem cell niche and regulates neural stem and progenitor cell proliferationIchiro Nakano
Department of Neurological Surgery, UCLA, Los Angeles, CA 90095 1769, USA
Stem Cells 25:1975-84. 2007..Disclosure of potential conflicts of interest is found at the end of this article... - Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism familiesMaricela Alarcon
Center for Neurobehavioral Genetics and Neuropsychiatric Research Institute, and Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
Am J Hum Genet 70:60-71. 2002..The putative autism-susceptibility locus on chromosome 7 may be the result of separate QTLs for the language and repetitive or stereotyped behavior deficits that are associated with the disorder... - A quantitative trait locus analysis of social responsiveness in multiplex autism familiesJacqueline A Duvall
Department of Neurology, University of California, Los Angeles, USA
Am J Psychiatry 164:656-62. 2007..The authors present the first genome-wide scan for a social endophenotype in autism using the Social Responsiveness Scale, which provides a quantitative measure of autistic-like behavior, primarily focused on social relatedness... - Apolipoprotein epsilon4 status is associated with behavioral symptoms in nursing home residents with dementiaDiana Lynn Woods
School of Nursing, University of California, Los Angeles 90095 6919, USA
Int Psychogeriatr 21:722-8. 2009..The aim of this study was to examine the association between APOE genotype and BSD in NH residents using direct observation... - Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementiaMaria Jesus Sobrido
Department of Neurology, The David Geffen School of Medicine at UCLA, Los Angeles, CA 9095, USA
Arch Neurol 60:698-702. 2003..A subset of familial cases (FTDP-17) of frontotemporal dementia (FTD) are caused by mutations in the tau gene. The role of tau gene mutations and haplotypes in sporadic FTD and the functional consequences of tau polymorphisms are unknown... - Exercise your amyloidStanislav L Karsten
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA
Cell 120:572-4. 2005..Now, Lazarov and coworkers show that a simple paradigm of environmental enrichment alleviates amyloid burden and alters disease-associated gene expression changes in a double transgenic mouse model of AD... - Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologueThomas Schwarzbraun
Institute of Medical Biology and Human Genetics, Medical University of Graz, Harrachgasse 21 8, A 8010 Graz, Austria
Genomics 84:577-86. 2004..We identified two novel SNPs in the intron-exon boundaries; however, they did not segregate only with affected subjects in the predicted model of an autosomal dominant disease such as IBGC... - High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disordersSonja C Vernes
Wellcome Trust Centre for Human Genetics, The University of Oxford, Oxford, OX3 7BN, UK
Am J Hum Genet 81:1232-50. 2007..The identified targets suggest roles in modulating synaptic plasticity, neurodevelopment, neurotransmission, and axon guidance and represent novel entry points into in vivo pathways that may be disturbed in speech and language disorders... - Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autismChrista Lese Martin
Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
Am J Med Genet B Neuropsychiatr Genet 144:869-76. 2007..Further investigations in a larger sample may provide additional information regarding the involvement of this gene in the autistic phenotype... - Identification of process-localized mRNAs from cultured rodent hippocampal neuronsMichael M Poon
Interdepartmental Program in Neuroscience, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA
J Neurosci 26:13390-9. 2006..These findings indicate that there is a rich repertoire of mRNAs whose translation can be locally regulated and support the emerging idea that local protein synthesis serves to boost the translational capacity of synapses... - ATF4 is an oxidative stress-inducible, prodeath transcription factor in neurons in vitro and in vivoPhilipp S Lange
Burke Medical Research Institute, White Plains, NY 10605, USA
J Exp Med 205:1227-42. 2008..Collectively, these findings establish ATF4 as a redox-regulated, prodeath transcriptional activator in the nervous system that propagates death responses to oxidative stress in vitro and to stroke in vivo... - HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse modelMyriam Rai
Laboratoire de Neurologie Expérimentale, Hopital Erasme, Universite Libre de Bruxelles ULB, Brussels, Belgium
PLoS ONE 3:e1958. 2008.... - X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLeanne M Dibbens
Department of Genetic Medicine, Level 9 Rieger Building, Women s and Children s Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia
Nat Genet 40:776-81. 2008..PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation... - Cancerous stem cells can arise from pediatric brain tumorsHouman D Hemmati
Division of Biology 139-74, California Institute of Technology, Pasadena, CA 91125, USA
Proc Natl Acad Sci U S A 100:15178-83. 2003..This finding may have important implications for treatment by means of specific targeting of stem-like cells within brain tumors... - Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disordersBetul Bakkaloglu
Program on Neurogenetics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Hum Genet 82:165-73. 2008.... - Strong association of de novo copy number mutations with autismJonathan Sebat
Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
Science 316:445-9. 2007..Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized... - Elevated gene expression levels distinguish human from non-human primate brainsMario Cáceres
Laboratory of Genetics, The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
Proc Natl Acad Sci U S A 100:13030-5. 2003..The increased expression of these genes could provide the basis for extensive modifications of cerebral physiology and function in humans and suggests that the human brain is characterized by elevated levels of neuronal activity... - A genomewide screen of 345 families for autism-susceptibility lociAmanda L Yonan
Department of Genetics and Development and Columbia Genome Center, Columbia University, New York, NY 10032, USA
Am J Hum Genet 73:886-97. 2003.... - Early asymmetry of gene transcription in embryonic human left and right cerebral cortexTao Sun
Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, New Research Building Room 0266, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
Science 308:1794-8. 2005....
Research Grants
- A Genomewide Search for Autism Susceptibilty LociDaniel Geschwind; Fiscal Year: 2006..All phenotypic and genotype data will be made accessible via the Internet on a rolling basis, further enhancing the value of this resource to the community. ..
- Identification of targets of FoxP2 in the brainDaniel Geschwind; Fiscal Year: 2006..This proposal has a strong screening component in an area where no molecular mechanisms have been identified and fits well within the R21 framework. ..
- Training Grant in Neurobehavioral GeneticsDaniel Geschwind; Fiscal Year: 2007....
- Identification and Characterization of Asymmetrically-Expressed GenesDaniel Geschwind; Fiscal Year: 2007..All of this will clearly inform the study of human neurodevelopmental disorders that are related to speech and language, as well as probe the utility and limitations of animal models for these disorders. ..
- Novel Genetic Risk Factors for Alzheimer's Disease (AD) & Frontotemporal DementiaDaniel Geschwind; Fiscal Year: 2007..abstract_text> ..
- A Comprehensive Approach to Identification of Autism Susceptibility GenesDaniel H Geschwind; Fiscal Year: 2010..All phenotypic and genotype data will be made accessible via the Internet on a rolling basis, including minority families, further enhancing the value of this resource to the community. ..
- Genomewide Search--Autism Susceptibility Loci-supplementDaniel Geschwind; Fiscal Year: 2003..This work is a direct response to Title 1 of the Pediatric Health Act of 2000 which authorizes and mandates an increased NIH commitment to autism gene banking. ..
- ASYMMETRICALLY EXPRESSED GENES IN DEVELOPING CEREBRUMDaniel Geschwind; Fiscal Year: 2003..abstract_text> ..
- THE GENETICS OF IDIOPATHIC BASAL GANGLIA CALCIFICATIONDaniel Geschwind; Fiscal Year: 2004..Physical mapping and candidate screening for mutations will be pursued as the region is narrowed to identify the IBGC gene. A genome scan will be performed in families who are not linked to the chr.14 locus. ..
- Novel Genetic Risk Factors for Alzheimer's Disease (AD) & Frontotemporal DementiaDaniel Geschwind; Fiscal Year: 2009..abstract_text> ..