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Genomes and Genes | W E KaufmannSummaryAffiliation: Johns Hopkins University Country: USA Publications
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Publications
Dendritic anomalies in disorders associated with mental retardationW E Kaufmann
Departments of Pathology, Neurology, Pediatrics, and Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine and the Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA
Cereb Cortex 10:981-91. 2000..Finally, a model of genotype to neurologic phenotype pathway in MR, centered in dendritic abnormalities, is postulated...- Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging studyWalter E Kaufmann
Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
J Child Neurol 18:463-70. 2003..The latter results are consistent with MRI studies showing lobules VI-VII hyperplasia in a subset of subjects with idiopathic autism and cerebral and hippocampal enlargements in fragile X syndrome... - Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndromeW E Kaufmann
Departments of Pathology, Neurology, Pediatrics, and Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine and the Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA
Cereb Cortex 10:992-1004. 2000..The specificity of these cytoskeletal protein changes, their significance for RS pathogenesis and plasticity, as well as their implications for other MR-associated disorders, are also discussed... - rheb, a growth factor- and synaptic activity-regulated gene, encodes a novel Ras-related proteinK Yamagata
Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
J Biol Chem 269:16333-9. 1994..Its close homology with ras and its rapid inducibility by receptor-dependent synaptic activity suggest that rheb may play an important role in long term activity-dependent neuronal responses... 
COX-2, a synaptically induced enzyme, is expressed by excitatory neurons at postsynaptic sites in rat cerebral cortexW E Kaufmann
Department of Pathology, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 93:2317-21. 1996..These results suggest that COX-2, and its diffusible prostanoid products, may play a role in postsynaptic signaling of excitatory neurons in cortex and associated structures...- Cyclooxygenase-2 expression during rat neocortical development and in Rett syndromeW E Kaufmann
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 6417, USA
Brain Dev 19:25-34. 1997.... - Expression of a mitogen-inducible cyclooxygenase in brain neurons: regulation by synaptic activity and glucocorticoidsK Yamagata
Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 2185
Neuron 11:371-86. 1993..Our studies indicate that COX-2 expression may be important in regulating prostaglandin signaling in brain. The marked inducibility in neurons by synaptic stimuli suggests a role in activity-dependent plasticity... - Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classificationC Colantuoni
Department of Neurology, Kennedy Krieger Institute, 707 North Broadway, Maryland, Baltimore 21205, USA
Neurobiol Dis 8:847-65. 2001..Although previously achieved in cancers, our results constitute the first report of human disease classification using gene expression profiling in a complex tissue source such as brain... - FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndromeM T Abrams
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21201, USA
Am J Med Genet 82:25-30. 1999..This report further demonstrates the feasibility of using ON samples to evaluate the FMR1 mutation in humans in vivo... - Immunoblotting patterns of cytoskeletal dendritic protein expression in human neocortexW E Kaufmann
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Mol Chem Neuropathol 31:235-44. 1997..Quantitations of blots, by tissue protein-optical density curves that demonstrated linearity of the measurements in the 0- to 100-microgram range, support the feasibility of these immunoassays for the study of neurologic disorders... - Egr3/Pilot, a zinc finger transcription factor, is rapidly regulated by activity in brain neurons and colocalizes with Egr1/zif268K Yamagata
Department of Neuroscience, Johns Hopkins University, School of Medicine, Baltimore, Maryland 21205, USA
Learn Mem 1:140-52. 1994..Our studies suggest that interactions between these coregulated transcription factors may be important in defining long-term, neuroplastic responses... - Cycloxygenase-2 activity promotes cognitive deficits but not increased amyloid burden in a model of Alzheimer's disease in a sex-dimorphic patternT Melnikova
Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
Neuroscience 141:1149-62. 2006..These findings suggest that pathological activation of COX-2 may potentiate the toxicity of Abeta peptides, particularly in females, without significantly affecting Abeta accumulation... - Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractionsK M Aber
Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
Neuroscience 116:77-80. 2003..These findings support the concept that methyl-CpG-binding protein 2 may link synaptic activity and transcriptional regulation in neurons... 
Social impairments in Rett syndrome: characteristics and relationship with clinical severityW E Kaufmann
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
J Intellect Disabil Res 56:233-47. 2012....- Quantitative 1H MR spectroscopic imaging in early Rett syndromeA Horska
Department of Radiology, Johns Hopkins University, School of Medicine, Baltimore, MD, USA
Neurology 54:715-22. 2000..To determine cerebral regional concentrations of N-acetyl aspartate (NAA), total choline (Cho), and total creatine (Cr) in Rett syndrome (RS) using 1H magnetic resonance spectroscopic imaging (MRSI)... - Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndromeW E Kaufmann
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Am J Med Genet 83:286-95. 1999..Furthermore, our unexpected finding of FMRP-ir in all males with FM suggests that most of them are not transcriptionally silent... - Age-dependent cognitive deficits and neuronal apoptosis in cyclooxygenase-2 transgenic miceK I Andreasson
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
J Neurosci 21:8198-209. 2001.... - Neuroimaging studies in Rett syndromeS Naidu
The Kennedy Krieger Institute and the Johns Hopkins University, Baltimore, MD 21205, USA
Brain Dev 23:S62-71. 2001..The resulting neuroexcitotoxic injury to the developing brain contributes to the seizures, behavioral disturbance and respiratory irregularities commonly seen in phases 1 and 2 of this disorder... - Diffusion tensor imaging of the developing mouse brainS Mori
Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 720 Rutland Ave, Baltimore, MD 21205, USA
Magn Reson Med 46:18-23. 2001..This ability to detect changes in the organization of the brain during development will greatly enhance morphological studies of transgenic and knockout models of cortical dysfunction. Magn Reson Med 46:18-23, 2001... - Annexin-1 is abnormally expressed in fragile X syndrome: two-dimensional electrophoresis study in lymphocytesH T Sun
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Am J Med Genet 103:81-90. 2001..Our data also emphasize the feasibility of using 2D PAGE for disclosing molecular abnormalities in Fragile X and other genetic disorders... - Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging studyJ C Carter
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, MD 21211, USA
AJNR Am J Neuroradiol 29:436-41. 2008.... - Autism spectrum disorder in Down syndrome: cluster analysis of Aberrant Behaviour Checklist data supports diagnosisN Y Ji
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
J Intellect Disabil Res 55:1064-77. 2011..Therefore, we attempted to validate DSM-based diagnoses via an unbiased categorisation of participants with a DSM-independent behavioural instrument... - Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1L E Cutting
Developmental Cognitive Neurology, Kennedy Krieger Institute, Baltimore, MD 21205, USA
J Child Neurol 15:157-60. 2000..009)... - Arc, a growth factor and activity-regulated gene, encodes a novel cytoskeleton-associated protein that is enriched in neuronal dendritesG L Lyford
Department of Neuroscience, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
Neuron 14:433-45. 1995..Accordingly, we have termed the gene and encoded protein Arc (activity-regulated cytoskeleton-associated protein). Our observations suggest that Arc may play a role in activity-dependent plasticity of dendrites... - Ectopic cerebellum presenting as a suprasellar mass in infancy: implications for cerebellar developmentA H Chang
Department of Pathology, Johns Hopkins University Medical School, Baltimore, MD 21287, USA
Pediatr Dev Pathol 4:89-93. 2001..Intrinsic signaling mechanisms appear sufficient to direct histogenesis in developing cerebellar cortex... - Neurobiology of Fragile X syndrome: from molecular genetics to neurobehavioral phenotypeWalter E Kaufmann
Microsc Res Tech 57:131-4. 2002 - Cerebral growth in Fragile X syndrome: review and comparison with Down syndromeWendy R Kates
aMRI Analysis Laboratory, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Microsc Res Tech 57:159-67. 2002..These neuroimaging data are discussed in the context of FraX neurobiology and other developmental disorders... - Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targetsWalter E Kaufmann
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Microsc Res Tech 57:135-44. 2002.... - The diagnosis of autism in a female: could it be Rett syndrome?Deidra J Young
Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, Perth, WA, Australia
Eur J Pediatr 167:661-9. 2008..We recommend that females who are initially considered to have autism be carefully monitored for the evolution of the signs and symptoms of Rett syndrome... - Neuroanatomic correlates of autism and stereotypy in children with Down syndromeJohn C Carter
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, MD 21211, USA
Neuroreport 19:653-6. 2008..Cerebellar white matter volumes were positively correlated with severity of stereotypies, a distinctive feature of ASD in DS... - Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literatureBradford Coffee
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Am J Med Genet A 146:1358-67. 2008..We review the literature of FMR1 deletions and present this case in the context of other FMR1 deletions having mental retardation that may or may not have the classic fragile X phenotype... - Social approach and autistic behavior in children with fragile X syndromeJane E Roberts
FPG Child Development Institute, University of North Carolina at Chapel Hill, Carrboro, NC 27510, USA
J Autism Dev Disord 37:1748-60. 2007..Selected social approach behaviors were related to autistic behavior. Increased eye contact over the course of a research assessment, in particular, was found to be a strong predictor of lower autistic behavior... - Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalitiesJohn C Carter
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
Am J Med Genet B Neuropsychiatr Genet 144:87-94. 2007..Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal... - Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawalDejan B Budimirovic
Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
Am J Med Genet A 140:1814-26. 2006.... - Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklistGeorge T Capone
Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
Am J Med Genet A 134:373-80. 2005..This study demonstrates the feasibility of using the ABC to characterize the neurobehavioral phenotype of a cohort of children with trisomy 21 and ASD for ongoing research purposes... - Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyriasConstanza Solis
Services of Biochemistry and Neuropediatrics, University Hospital La Paz, Madrid, Spain
Arch Neurol 61:1764-70. 2004.... - Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviorsWalter E Kaufmann
Kennedy Krieger Institute, Baltimore, Maryland 21211, USA
Am J Med Genet A 129:225-34. 2004..Altogether, our findings demonstrate that the diagnosis of ASD in FraX reflects, to a large extent, an impairment in social interaction that is expressed with variable severity in young males with FraX... - Social behavior profile in young males with fragile X syndrome: characteristics and specificityAlice S M Kau
Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
Am J Med Genet A 126:9-17. 2004..In agreement with recent studies, our data suggest that FraX+Aut, and more generally SBP, is a distinctive subphenotype among boys with FraX, which may share some pathophysiological mechanisms with IA... - Early development in males with Fragile X syndrome: a review of the literatureAlice S M Kau
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Microsc Res Tech 57:174-8. 2002..Finally, deficits in social development in FraX include abnormal gaze, approach and avoidance conflict, and high incidence of autistic spectrum disorders...