Research Topics
Genomes and Genes
| Daniel H GeschwindSummaryAffiliation: University of California Country: USA Publications
| Collaborators
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Detail Information
Publications
Genetics of autism spectrum disordersDaniel H Geschwind
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Trends Cogn Sci 15:409-16. 2011....- 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... 
Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging featuresSharon J Sha
Department of Neurology, University of California, San Francisco, USA
Neurology 79:1002-11. 2012..To describe the phenotype of patients with C9FTD/ALS (C9ORF72) hexanucleotide repeat expansion...- Increased fMRI signal with age in familial Alzheimer's disease mutation carriersMEREDITH N BRASKIE
Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
Neurobiol Aging 33:424.e11-21. 2012..This suggests that during novelty encoding, increased fMRI activity in the temporal lobe may relate to incipient AD processes... - Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signalingEzra Y Rosen
Interdepartmental Program for Neuroscience, University of California Los Angeles, Los Angeles, CA 90095, USA
Neuron 71:1030-42. 2011..Together, these in vitro and in vivo data point to an adaptive role for altered Wnt signaling in GRN deficiency-mediated FTD, representing a potential therapeutic target... - Human-specific transcriptional networks in the brainGenevieve Konopka
Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
Neuron 75:601-17. 2012..These data demonstrate that transcriptional networks have undergone evolutionary remodeling even within a given brain region, providing a window through which to view the foundation of uniquely human cognitive capacities... - Genome-wide analysis of a Wnt1-regulated transcriptional network implicates neurodegenerative pathwaysEric M Wexler
Department of Psychiatry, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA 90024, USA
Sci Signal 4:ra65. 2011..These unbiased and genome-wide analyses provide evidence for a connection between Wnt signaling and the transcriptional regulation of neurodegenerative disease genes... - 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... - Transcriptomic analysis of autistic brain reveals convergent molecular pathologyIrina Voineagu
Program in Neurogenetics and Neurobehavioral Genetics, Department of Neurology and Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California 90095 1769, USA
Nature 474:380-4. 2011..Collectively, our results provide strong evidence for convergent molecular abnormalities in ASD, and implicate transcriptional and splicing dysregulation as underlying mechanisms of neuronal dysfunction in this disorder... - 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... 
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...- 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... - 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... - RBFOX1 regulates both splicing and transcriptional networks in human neuronal developmentBrent L Fogel
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
Hum Mol Genet 21:4171-86. 2012.... - 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... - Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2Ashley A Scott-Van Zeeland
Center for Cognitive Neuroscience, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Sci Transl Med 2:56ra80. 2010..The convergence between genetic findings and cognitive-behavioral models of autism provides evidence that genetic variation at CNTNAP2 predisposes to diseases such as autism in part through modulation of frontal lobe connectivity... - Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficitsOlga Penagarikano
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Cell 147:235-46. 2011..These data demonstrate a functional role for CNTNAP2 in brain development and provide a new tool for mechanistic and therapeutic research in ASD... - 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... - 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... - Autism-associated promoter variant in MET impacts functional and structural brain networksJeffrey D Rudie
Ahmanson Lovelace Brain Mapping Center, University of California, Los Angeles, Los Angeles, CA 90095 7085, USA
Neuron 75:904-15. 2012..Notably, these effects were more pronounced in individuals with ASD. These findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD... - Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotypeJohn M Ringman
Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, David Geffen School of Medicine at UCLA, 10911 Weyburn Ave, Ste 200, Los Angeles, CA 90095, USA
Arch Neurol 69:757-64. 2012..To study the effect of familial Alzheimer disease (FAD) mutations and APOE genotype on plasma signaling protein levels... - Familial cortical myoclonus with a mutation in NOL3Jonathan F Russell
Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94158, USA
Ann Neurol 72:175-83. 2012..We identified a family suffering from adult onset, cortical myoclonus without associated seizures. We performed clinical, electrophysiological, and genetic studies to define this phenotype... - Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's diseaseLiana G Apostolova
Mary S Easton Center for Alzheimer s Disease Research, Department of Neurology, UCLA School of Medicine, Los Angeles, Calif, USA
Dement Geriatr Cogn Disord 32:118-25. 2011..Both familial and sporadic Alzheimer's disease (AD) result in progressive cortical and subcortical atrophy. Familial autosomal dominant AD (FAD) allows us to study AD brain changes presymptomatically... - Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism riskZohar Mukamel
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
J Neurosci 31:11437-42. 2011..The expression of MET in restricted human neocortical regions, and its regulation in part by FOXP2, is consistent with genetic evidence for MET contributing to ASD risk... - Strategies for aggregating gene expression data: the collapseRows R functionJeremy A Miller
Interdepartmental Program for Neuroscience, UCLA, Los Angeles, California, USA
BMC Bioinformatics 12:322. 2011..Several standard statistical summary techniques can be used, but network methods also provide useful alternative methods to find representatives. Currently few collapsing functions are developed and widely applied... - A gene expression phenotype in lymphocytes from Friedreich ataxia patientsGiovanni Coppola
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
Ann Neurol 70:790-804. 2011..Peripheral biomarkers related to disease status would be extremely valuable for assessing drug efficacy and could provide new pathophysiological insights... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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 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.... - Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defectsSandra Almeida
Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA
Cell Rep 2:789-98. 2012..Our findings identify cell-autonomous, reversible defects in patient neurons with PGRN deficiency, and provide a compelling model for studying PGRN-dependent pathogenic mechanisms and testing potential therapies... - DISC1: a schizophrenia gene with multiple personalitiesEric M Wexler
Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA 90024 1759, USA
Neuron 72:501-3. 2011..These complementary studies elegantly bridge the gap between genetic and cellular studies of schizophrenia, providing a level of functional validation that is often lacking in the field... - What does CNTNAP2 reveal about autism spectrum disorder?Olga Penagarikano
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Trends Mol Med 18:156-63. 2012.... - 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... - Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutationsJohn M Ringman
Mary S Easton Center for Alzheimer s Disease Research, 10911 Weyburn Ave, Ste 200, Los Angeles, CA 90095, USA
Arch Neurol 69:96-104. 2012..To identify cerebrospinal fluid (CSF) protein changes in persons who will develop familial Alzheimer disease (FAD) due to PSEN1 and APP mutations, using unbiased proteomics... - 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.... - Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathwaysJeremy A Miller
Interdepartmental Program for Neuroscience, Department of Human Genetics and Biostatistics, University of California, Los Angeles, CA 90095 1769, USA
Proc Natl Acad Sci U S A 107:12698-703. 2010..Together, this work identifies convergent and divergent pathways in mouse and human, and provides a systematic framework that will be useful for understanding the applicability of mouse models for human brain disorders... - 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... - Human brain evolution: harnessing the genomics (r)evolution to link genes, cognition, and behaviorGenevieve Konopka
Department of Neurology, University of California, Los Angeles, Los Angeles, CA 90095, USA
Neuron 68:231-44. 2010..Furthermore, these integrative approaches should provide important insights into human diseases... - 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... - 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... - 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.... - 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... - Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disordersRui Luo
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, 90095, USA
Am J Hum Genet 91:38-55. 2012.... - Network organization of the huntingtin proteomic interactome in mammalian brainDyna I Shirasaki
Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA 90095, USA
Neuron 75:41-57. 2012.... - The organization of the transcriptional network in specific neuronal classesKellen D Winden
Interdepartmental Program for Neuroscience, University of California Los Angeles, Los Angeles, CA, USA
Mol Syst Biol 5:291. 2009..These analyses provide a basis for understanding how specific aspects of neuronal phenotypic diversity are organized at the transcriptional level... - 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]... - An age-related sprouting transcriptome provides molecular control of axonal sprouting after strokeSonglin Li
Department of Neurology, David Geffen School of Medicine at University of California, Los Angeles, California, USA
Nat Neurosci 13:1496-504. 2010..This neuronal growth program may provide new therapeutic targets and suggest mechanisms for age-related differences in functional recovery... - 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... - 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... - 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... - 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... - 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... - 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.... - 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... - 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 - 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... - 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.... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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.... - Inflammatory mediators alter the astrocyte transcriptome and calcium signaling elicited by multiple G-protein-coupled receptorsMary E Hamby
Department of Neurobiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California 90095 1763, USA
J Neurosci 32:14489-510. 2012.... - Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxiaBrent L Fogel
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA
Mov Disord 27:442-6. 2012..Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia... - Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansionBaber K Khan
Department of Neurology, University of California San Francisco, San Francisco, CA, USA
J Neurol Neurosurg Psychiatry 83:358-64. 2012..Here, two patients with bvFTD-SP with chromosome 9 open reading frame 72 (C9ORF72) hexanucleotide expansions are described... - Cell lineage and regional identity of cultured spinal cord neural stem cells and comparison to brain-derived neural stem cellsTheresa K Kelly
The Semel Institute for Neuroscience and Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA
PLoS ONE 4:e4213. 2009..Furthermore, there is a population of a LeX negative NSC that is present in neurospheres derived from the embryonic spinal cord but not the cortex... - 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... - 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... - 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... - 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... - 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... - 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... - 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.... - Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcificationSandy Chan Hsu
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA
Neurogenetics 14:11-22. 2013..Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation... - High density SNP association study of a major autism linkage region on chromosome 17Jennifer L Stone
Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 16:704-15. 2007..34-2.29... - 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 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... - Birdsong decreases protein levels of FoxP2, a molecule required for human speechJulie E Miller
Department of Physiological Science, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
J Neurophysiol 100:2015-25. 2008..Our data, together with recent reports on FoxP2's target genes, suggest that lowered FoxP2 levels may allow for expression of genes important for circuit modification and thus vocal variability... - 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... - 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... - Sumoylated MEF2A coordinately eliminates orphan presynaptic sites and promotes maturation of presynaptic boutonsTomoko Yamada
Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
J Neurosci 33:4726-40. 2013..Our study has important implications for understanding neuronal connectivity in brain development and disease... - Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseasesGiovanni Coppola
Department of Neurology, University of California, Los Angeles, CA, USA
Hum Mol Genet 21:3500-12. 2012.... - 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... - 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... - 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... - Schizophrenia: genome, interruptedRita M Cantor
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
Neuron 58:165-7. 2008..A current paper makes a significant advance to schizophrenia genetics by establishing an association with rare copy number variants (CNV), which are over-represented in neurodevelopmental genes... - 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...