title: Functions of the nuclear envelope and lamina in development and disease.
abstract: Recent findings that some 24 inherited diseases and anomalies are caused by defects in proteins of the NE (nuclear envelope) and lamina have resulted in a fundamental reassessment of the functions of the NE and underlying lamina. Instead of just regarding the NE and lamina as a molecular filtering device, regulating the transfer of macromolecules between the cytoplasm and nucleus, we now envisage the NE/lamina functioning as a key cellular 'hub' in integrating critical functions that include chromatin organization, transcriptional regulation, mechanical integrity of the cell and signalling pathways, as well as acting as a key component in the organization and function of the cytoskeleton.
authors.affiliation: Center for Genetic Medicine, Children's National Medical Center, NW Washington, DC 20010, USA.
authors.forename: Tatiana V
authors.initials: TV
authors.lastname: Cohen
authors.forename: Lidia
authors.initials: L
authors.lastname: Hernandez
authors.forename: Colin L
authors.initials: CL
authors.lastname: Stewart
mesh_terms: D000818:Animals; D004194:Disease; D004195:Disease Models, Animal; D047108:Embryonic Development; D006801:Humans; D034882:Lamins / Q000235:genetics / Q000378:metabolism; D054792:Muscle, Striated / Q000473:pathology; D034881:Nuclear Lamina / Q000378:metabolism*
chemical_list: D034882:Lamins