Lamins and Disease
نویسندگان
چکیده
منابع مشابه
Lamins in disease
The nuclear envelope (NE) creates a compartment within the interphase cell in which DNA replication, transcription and RNA processing can be regulated independently of translation. Components of the NE include the inner nuclear membrane (INM) and outer nuclear membrane (ONM), nuclear pore complexes (NPCs) and the nuclear lamina. The lamina is a fibrous nucleoskeletal structure associated with t...
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Systematic correlation of phenotype with genotype is a key goal of the emerging field of phenomics, which is expected to help define complex diseases. Careful evaluation of phenotype-genotype associations in monogenic disorders, such as laminopathies, might provide new hypotheses to be tested with molecular and cellular studies and might also suggest potential new intervention strategies. For i...
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ins have affinity for DNA, chromatin, and histones (see Stuurman et al., 1998), which might allow interior lamins to associate with and organize chromatin. For example, Katherine L. Wilson,* Michael S. Zastrow, and Kenneth K. Lee Department of Cell Biology and Anatomy lamins are essential for DNA replication, which is initiJohns Hopkins University School of Medicine ated in a spatially organize...
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Xie and Burke discuss the roles of lamins in nuclear morphology and the pathological consequences of defects in these nuclear envelope proteins.
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Mutations in nuclear lamins or other proteins of the nuclear envelope are the root cause of a group of phenotypically diverse genetic disorders known as laminopathies, which have symptoms that range from muscular dystrophy to neuropathy to premature aging syndromes. Although precise disease mechanisms remain unclear, there has been substantial progress in our understanding of not only laminopat...
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ژورنال
عنوان ژورنال: Cell
سال: 2001
ISSN: 0092-8674
DOI: 10.1016/s0092-8674(01)00261-6