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The laminopathies: The functional architecture of the nucleus and its contribution to disease

  1. Author:
    Burke, B.
    Stewart, C. L.
  2. Author Address

    Univ Florida, Dept Anat & Cell Biol, Gainesville, FL 32610 USA. NCI, Canc & Dev Biol Lab, Frederick, MD 21702 USA.;Burke, B, Univ Florida, Dept Anat & Cell Biol, Gainesville, FL 32610 USA.;Stewartc@ncifcrf.gov
    1. Year: 2006
  1. Journal: Annual review of genomics and human genetics
    1. 7
    2. Pages: 369-405
  2. Type of Article: Review
  3. ISSN: 1527-8204
  1. Abstract:

    Most inherited diseases are associated with mutations in a specific gene. Often, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases. Mutations in the Lamin A gene (LMNA), which encodes largely ubiquitously expressed nuclear proteins (A-type lamins), are associated with at least eight different diseases, collectively called the laminopathies. Studies examining how different tissue-specific diseases arise from unique LMNA mutations are providing unanticipated insights into the structural organization of the nucleus, and how disruption of this organization relates to novel mechanisms of disease.

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External Sources

  1. DOI: 10.1146/annurev.genom.7.080505.115732
  2. WOS: 000242032200016

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