The laminopathies: the functional architecture of the nucleus and its contribution to disease (*).

The laminopathies: the functional architecture of the nucleus and its contribution to disease (*). Research Abstract Details 

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The laminopathies: the functional architecture of the nucleus and its contribution to disease (*). Abstract Text:

Brian Burke,Colin L Stewart,

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.

The laminopathies: the functional architecture of the nucleus and its contribution to disease (*). Publishing Authors By Initials

B Burke,CL Stewart,

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The laminopathies: the functional architecture of the nucleus and its contribution to disease (*). Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Annual review of genomics and human genetics

VOLUME: 7

Page Numbers: 369-405

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ISSN: 1527-8204

DAY: 29

MONTH: 11

YEAR: 2006

The laminopathies: the functional architecture of the nucleus and its contribution to disease (*). Information

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LANGUAGE: eng

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AFFILIATION: 1Department of Anatomy and Cell Biology, University of Florida, Gainesville, Florida 32610-0235, 2Cancer and Developmental Biology Laboratory, National Cancer Institute, Frederick, Maryland 21702; email: Stewartc@ncifcrf.gov.

Country: United States

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MEDLINETA: Annu Rev Genomics Hum Genet

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