Article
Soft substrates normalize nuclear morphology and prevent nuclear rupture in fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations.
Nucleus (Austin, Tex.) - 1 Jan 2000
Tamiello Chiara, Kamps Miriam A F, van den Wijngaard Arthur, Verstraeten Valerie L R M, Baaijens Frank P T, Broers Jos L V, Bouten Carlijn C V
Abstract excerpt
Laminopathies, mainly caused by mutations in the LMNA gene, are a group of inherited diseases with a highly variable penetrance; i.e., the disease spectrum in persons with identical LMNA mutations range from symptom-free conditions to severe cardiomyopathy and progeria, leading to early death. LMNA mutations cause nuclear abnormalities and cellular fragility in response to cellular mechanical stress, but the...
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