W E Kaufmann

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. ncbi request reprint Dendritic anomalies in disorders associated with mental retardation
    W 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
  2. ncbi request reprint Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study
    Walter 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
  3. ncbi request reprint Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome
    W 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
  4. ncbi request reprint rheb, a growth factor- and synaptic activity-regulated gene, encodes a novel Ras-related protein
    K Yamagata
    Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205
    J Biol Chem 269:16333-9. 1994
  5. pmc COX-2, a synaptically induced enzyme, is expressed by excitatory neurons at postsynaptic sites in rat cerebral cortex
    W 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
  6. ncbi request reprint Cyclooxygenase-2 expression during rat neocortical development and in Rett syndrome
    W E Kaufmann
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 6417, USA
    Brain Dev 19:25-34. 1997
  7. ncbi request reprint Expression of a mitogen-inducible cyclooxygenase in brain neurons: regulation by synaptic activity and glucocorticoids
    K Yamagata
    Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 2185
    Neuron 11:371-86. 1993
  8. ncbi request reprint Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification
    C Colantuoni
    Department of Neurology, Kennedy Krieger Institute, 707 North Broadway, Maryland, Baltimore 21205, USA
    Neurobiol Dis 8:847-65. 2001
  9. ncbi request reprint FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome
    M 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
  10. ncbi request reprint Immunoblotting patterns of cytoskeletal dendritic protein expression in human neocortex
    W E Kaufmann
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Mol Chem Neuropathol 31:235-44. 1997

Collaborators

Detail Information

Publications39

  1. ncbi request reprint Dendritic anomalies in disorders associated with mental retardation
    W 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...
  2. ncbi request reprint Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study
    Walter 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...
  3. ncbi request reprint Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome
    W 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...
  4. ncbi request reprint rheb, a growth factor- and synaptic activity-regulated gene, encodes a novel Ras-related protein
    K 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...
  5. pmc COX-2, a synaptically induced enzyme, is expressed by excitatory neurons at postsynaptic sites in rat cerebral cortex
    W 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...
  6. ncbi request reprint Cyclooxygenase-2 expression during rat neocortical development and in Rett syndrome
    W E Kaufmann
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 6417, USA
    Brain Dev 19:25-34. 1997
    ....
  7. ncbi request reprint Expression of a mitogen-inducible cyclooxygenase in brain neurons: regulation by synaptic activity and glucocorticoids
    K 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...
  8. ncbi request reprint Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification
    C 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...
  9. ncbi request reprint FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome
    M 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...
  10. ncbi request reprint Immunoblotting patterns of cytoskeletal dendritic protein expression in human neocortex
    W 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...
  11. ncbi request reprint Egr3/Pilot, a zinc finger transcription factor, is rapidly regulated by activity in brain neurons and colocalizes with Egr1/zif268
    K 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...
  12. ncbi request reprint Cycloxygenase-2 activity promotes cognitive deficits but not increased amyloid burden in a model of Alzheimer's disease in a sex-dimorphic pattern
    T 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...
  13. ncbi request reprint Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions
    K 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...
  14. doi request reprint Social impairments in Rett syndrome: characteristics and relationship with clinical severity
    W 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
    ....
  15. ncbi request reprint Quantitative 1H MR spectroscopic imaging in early Rett syndrome
    A 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)...
  16. ncbi request reprint Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome
    W 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...
  17. ncbi request reprint Age-dependent cognitive deficits and neuronal apoptosis in cyclooxygenase-2 transgenic mice
    K I Andreasson
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Neurosci 21:8198-209. 2001
    ....
  18. ncbi request reprint Neuroimaging studies in Rett syndrome
    S 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...
  19. ncbi request reprint Diffusion tensor imaging of the developing mouse brain
    S 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...
  20. ncbi request reprint Annexin-1 is abnormally expressed in fragile X syndrome: two-dimensional electrophoresis study in lymphocytes
    H 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...
  21. ncbi request reprint Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study
    J 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
    ....
  22. doi request reprint Autism spectrum disorder in Down syndrome: cluster analysis of Aberrant Behaviour Checklist data supports diagnosis
    N 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...
  23. ncbi request reprint Relationship of cognitive functioning, whole brain volumes, and T2-weighted hyperintensities in neurofibromatosis-1
    L E Cutting
    Developmental Cognitive Neurology, Kennedy Krieger Institute, Baltimore, MD 21205, USA
    J Child Neurol 15:157-60. 2000
    ..009)...
  24. ncbi request reprint Arc, a growth factor and activity-regulated gene, encodes a novel cytoskeleton-associated protein that is enriched in neuronal dendrites
    G 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...
  25. ncbi request reprint Ectopic cerebellum presenting as a suprasellar mass in infancy: implications for cerebellar development
    A 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...
  26. ncbi request reprint Neurobiology of Fragile X syndrome: from molecular genetics to neurobehavioral phenotype
    Walter E Kaufmann
    Microsc Res Tech 57:131-4. 2002
  27. ncbi request reprint Cerebral growth in Fragile X syndrome: review and comparison with Down syndrome
    Wendy 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...
  28. ncbi request reprint Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets
    Walter E Kaufmann
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Microsc Res Tech 57:135-44. 2002
    ....
  29. ncbi request reprint 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...
  30. doi request reprint Neuroanatomic correlates of autism and stereotypy in children with Down syndrome
    John 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...
  31. pmc Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature
    Bradford 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...
  32. ncbi request reprint Social approach and autistic behavior in children with fragile X syndrome
    Jane 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...
  33. ncbi request reprint Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities
    John 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...
  34. ncbi request reprint Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal
    Dejan 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
    ....
  35. ncbi request reprint Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist
    George 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...
  36. ncbi request reprint Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias
    Constanza Solis
    Services of Biochemistry and Neuropediatrics, University Hospital La Paz, Madrid, Spain
    Arch Neurol 61:1764-70. 2004
    ..To date, only 3 patients confirmed to have homozygous dominant AIP (HD-AIP) have been described (hydroxymethylbilane synthase genotypes R167Q/R167Q and R167W/R173Q)...
  37. ncbi request reprint Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors
    Walter 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...
  38. ncbi request reprint Social behavior profile in young males with fragile X syndrome: characteristics and specificity
    Alice 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...
  39. ncbi request reprint Early development in males with Fragile X syndrome: a review of the literature
    Alice 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...