• Login
    View Item 
    •   Home
    • UMass Chan Faculty and Staff Research and Publications
    • UMass Chan Faculty and Researcher Publications
    • View Item
    •   Home
    • UMass Chan Faculty and Staff Research and Publications
    • UMass Chan Faculty and Researcher Publications
    • View Item
    JavaScript is disabled for your browser. Some features of this site may not work without it.

    Browse

    All of eScholarship@UMassChanCommunitiesPublication DateAuthorsUMass Chan AffiliationsTitlesDocument TypesKeywordsThis CollectionPublication DateAuthorsUMass Chan AffiliationsTitlesDocument TypesKeywords

    My Account

    LoginRegister

    Help

    AboutSubmission GuidelinesData Deposit PolicySearchingAccessibilityTerms of UseWebsite Migration FAQ

    Statistics

    Most Popular ItemsStatistics by CountryMost Popular Authors

    Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy

    • CSV
    • RefMan
    • EndNote
    • BibTex
    • RefWorks
    Authors
    Tupler, Rossella
    Perini, Giovanni
    Pellegrino, Maria Antonietta
    Green, Michael R.
    UMass Chan Affiliations
    Howard Hughes Medical Institute, Program in Molecular Medicine
    Document Type
    Journal Article
    Publication Date
    1999-10-27
    Keywords
    Base Sequence
    DNA Primers
    DNA, Complementary
    Gene Expression Regulation
    Humans
    Molecular Sequence Data
    Muscle Proteins
    Muscular Dystrophy, Facioscapulohumeral
    Subtraction Technique
    Life Sciences
    Medicine and Health Sciences
    Show allShow less
    
    Metadata
    Show full item record
    Link to Full Text
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC23032/
    Abstract
    Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by an insidious onset and progressive course. The disease has a frequency of about 1 in 20,000 and is transmitted in an autosomal dominant fashion with almost complete penetrance. Deletion of an integral number of tandemly arrayed 3.3-kb repeat units (D4Z4) on chromosome 4q35 is associated with FSHD but otherwise the molecular basis of the disease and its pathophysiology remain obscure. Comparison of mRNA populations between appropriate cell types can facilitate identification of genes relevant to a particular biological or pathological process. In this report, we have compared mRNA populations of FSHD and normal muscle. Unexpectedly, the dystrophic muscle displayed profound alterations in gene expression characterized by severe underexpression or overexpression of specific mRNAs. Intriguingly, many of the deregulated mRNAs are muscle specific. Our results suggest that a global misregulation of gene expression is the underlying basis for FSHD, distinguishing it from other forms of muscular dystrophy. The experimental approach used here is applicable to any genetic disorder whose pathogenic mechanism is incompletely understood.
    Source

    Proc Natl Acad Sci U S A. 1999 Oct 26;96(22):12650-4.

    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/38959
    PubMed ID
    10535977
    Related Resources

    Link to Article in PubMed

    Collections
    UMass Chan Faculty and Researcher Publications

    entitlement

    DSpace software (copyright © 2002 - 2023)  DuraSpace
    Lamar Soutter Library, UMass Chan Medical School | 55 Lake Avenue North | Worcester, MA 01655 USA
    Quick Guide | escholarship@umassmed.edu
    Open Repository is a service operated by 
    Atmire NV
     

    Export search results

    The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

    By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

    To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

    After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.