Ontology highlight
ABSTRACT:
SUBMITTER: Robinson A
PROVIDER: S-EPMC3738925 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Robinson Alexis A Partridge Darren D Malhas Ashraf A De Castro Sandra C P SC Gustavsson Peter P Thompson Dominic N DN Vaux David J DJ Copp Andrew J AJ Stanier Philip P Bassuk Alexander G AG Greene Nicholas D E ND
Birth defects research. Part A, Clinical and molecular teratology 20130603 6
<h4>Background</h4>Lamins are intermediate filament proteins that form a major component of the nuclear lamina, a protein complex at the surface of the inner nuclear membrane. Numerous clinically diverse conditions, termed laminopathies, have been found to result from mutation of LMNA. In contrast, coding or loss of function mutations of LMNB1, encoding lamin B1, have not been identified in human disease. In mice, polymorphism in Lmnb1 has been shown to modify risk of neural tube defects (NTDs), ...[more]