Ontology highlight
ABSTRACT:
SUBMITTER: Jahn D
PROVIDER: S-EPMC3474667 | biostudies-literature | 2012 Sep-Oct
REPOSITORIES: biostudies-literature
Jahn Daniel D Schramm Sabine S Schnölzer Martina M Heilmann Clemens J CJ de Koster Chris G CG Schütz Wolfgang W Benavente Ricardo R Alsheimer Manfred M
Nucleus (Austin, Tex.) 20120816 5
During recent years a number of severe clinical syndromes, collectively termed laminopathies, turned out to be caused by various, distinct mutations in the human LMNA gene. Arising from this, remarkable progress has been made to unravel the molecular pathophysiology underlying these disorders. A great benefit in this context was the generation of an A-type lamin deficient mouse line (Lmna (-/-) ) by Sullivan and others, ( 1) which has become one of the most frequently used models in the field a ...[more]