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Nine human diseases have been linked to mutations in genes encoding components of the nuclear envelope, mostly in the lamin A gene (LMNA). These diseases include cardiac and skeletal myopathies (Emery–Dreifuss muscular dystrophy, dilated cardiomyopathy and limb–girdle muscular dystrophy 1B); Dunnigan′s partial lipodystrophy and mandibuloacral dysplasia; a peripheral neuropathy; Charcot–Marie–tooth disorder type 2, that affects the myelin sheath; and most recently, the premature ageing condition, Hutchinson–Gilford progeria. Another disease, Pelger–Huet anomaly, that affects nuclear morphology and skeletal development, is linked to an envelope–associated protein, the lamin B receptor. Furthermore, a recent study suggested that other diseases may be linked to many newly identified nuclear envelope–associated proteins.
This important book draws together contributions from scientists who are studying these diseases from different perspectives: cell and developmental biologists, structural biologists, geneticists and clinical scientists. Topics include how nuclear structure and location within a nucleus affect gene expression, chromatin organization and cell differentiation; the nature of the interactions between the nuclear envelope and the cytoskeleton; and the extent to which the cytoskeleton mediates communication between the cell membrane and nucleus in regulating gene expression, and whether disruption of such communication might underlie the disease processes.
It is hoped that a better understanding of the mechanisms leading to disease pathogenesis may ultimately lead to more rational and appropriate treatments.
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Description du livre Etat : Brand New. New. US edition. Expediting shipping for all USA and Europe orders excluding PO Box. Excellent Customer Service. N° de réf. du vendeur ABEOCT23-264797
Description du livre Gebunden. Etat : New. The Novartis Foundation is an international scientific and educational charity which promotes the study and general knowledge of science and in particular encourages international co-operation in scientific research.Chair: Robert D. Goldman2005The nucle. N° de réf. du vendeur 556554155