Search Results - "LaSalle, J M"
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Epigenomic Convergence of Neural-Immune Risk Factors in Neurodevelopmental Disorder Cortex
Published in Cerebral cortex (New York, N.Y. 1991) (21-03-2020)“…Abstract Neurodevelopmental disorders (NDDs) affect 7–14% of all children in developed countries and are one of the leading causes of lifelong disability…”
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X chromosome gene methylation in peripheral lymphocytes from monozygotic twins discordant for scleroderma
Published in Clinical and experimental immunology (01-09-2012)“…Summary Scleroderma (SSc) is a rare connective tissue disease characterized by fibrosis, microvasculopathy and autoimmune features. The role of genetics is…”
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Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
Published in Journal of medical genetics (01-02-2009)“…Chromosome 15q11-13 contains a cluster of imprinted genes essential for normal mammalian neurodevelopment. Deficiencies in paternal or maternal 15q11-13…”
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Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
Published in Human molecular genetics (15-08-2001)“…Rett syndrome (RTT) is an X-linked, dominant neurodevelopmental disorder caused by mutations in MECP2, encoding the methyl-CpG-binding protein 2 (MeCP2). A…”
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Homologous Association of Oppositely Imprinted Chromosomal Domains
Published in Science (American Association for the Advancement of Science) (03-05-1996)“…Human chromosome 15q11-q13 encompasses the Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) loci, which are subject to parental imprinting, a process…”
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Early signaling defects in human T cells anergized by T cell presentation of autoantigen
Published in The Journal of experimental medicine (01-07-1992)“…Major histocompatibility complex class II-positive human T cell clones are nontraditional antigen-presenting cells (APCs) that are able to simultaneously…”
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High-resolution analysis of DNA replication domain organization across an R/G-band boundary
Published in Molecular and Cellular Biology (01-10-1997)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution
Published in Nature genetics (01-04-1995)“…Imprinting marks the parental origin of chromosomes, resulting in allele-specific changes in chromatin organization, transcription and replication. We report a…”
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Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 but not intron 7
Published in Human genetics (01-02-2001)“…DNA methylation is a heritable and reversible modification to CpG sites in the mammalian genome. Parental allele-specific methylation is hypothesized to be…”
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Presentation of autoantigen by human T cells
Published in The Journal of immunology (1950) (01-08-1991)“…Activated human T cells express MHC class II and have been shown to present foreign Ag to autologous T cells. We now demonstrate that MHC class II+ T cell…”
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T cell anergy
Published in The FASEB journal (01-06-1994)“…T cell clonal anergy is a proposed mechanism of immunologic self tolerance in which T cells become functionally inactivated after previous stimulation. MHC…”
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T-cell presentation of antigen requires cell-to-cell contact for proliferation and anergy induction. Differential MHC requirements for superantigen and autoantigen
Published in The Journal of immunology (1950) (15-07-1993)“…MHC class II+ human T-cell clones are able to simultaneously present and respond to peptide Ag and superantigen resulting in both proliferation and subsequent…”
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RAB22 and RAB163/Mouse BRCA2: Proteins that Specifically Interact with the RAD51 Protein
Published in Proceedings of the National Academy of Sciences - PNAS (24-06-1997)“…The human RAD51 protein is a homologue of the bacteria RecA and yeast RAD51 proteins that are involved in homologous recombination and DNA repair. RAD51…”
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Biological activity of recombinant human myelin basic protein
Published in Journal of neuroimmunology (01-05-1993)“…Using an inducible expression vector in Escherichia coli, we have expressed, purified, and biologically characterized recombinant human myelin basic protein…”
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Detection of low level HER-2/neu gene amplification in prostate cancer by fluorescence in situ hybridization
Published in The cancer journal (Sudbury, Mass.) (01-09-2001)“…Although expression of the HER-2/neu oncogene has been correlated with tumor progression in prostate cancer, the biologic significance of detecting HER-2/neu…”
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Evolving role of MeCP2 in Rett syndrome and autism
Published in Epigenomics (01-10-2009)“…Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2…”
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Clonal Heterogeneity at Allelic Methylation Sites Diagnostic for Prader-Willi and Angelman Syndromes
Published in Proceedings of the National Academy of Sciences - PNAS (17-02-1998)“…Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are developmental disorders resulting from the absence of the paternal or maternal contribution to the…”
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The Entropy and Structure of the Pervanadyl Ion
Published in Journal of physical chemistry (1952) (01-06-1955)Get full text
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Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome
Published in Human molecular genetics (15-12-2014)Get full text
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Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
Published in Human molecular genetics (15-02-2005)“…Autism is a common neurodevelopmental disorder of complex genetic etiology. Rett syndrome, an X-linked dominant disorder caused by MECP2 mutations, and…”
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