Associated Papers
Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.
Desgrouas C et al.
Sub-cellular Biochemistry, 2025
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
Navarro CL et al.
European Journal of Human Genetics : Ejhg, 2014
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.
Smigiel R et al.
American Journal of Medical Genetics. Part A, 2010
A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.
Chen M et al.
American Journal of Medical Genetics. Part A, 2009
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Altered splicing in prelamin A-associated premature aging phenotypes.
De Sandre-Giovannoli A et al.
Progress in Molecular and Subcellular Biology, 2006
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Navarro CL et al.
Human Molecular Genetics, 2005
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