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
The epidemiology of premature aging and associated comorbidities.
Coppedè F
Clinical Interventions in Aging, 2013
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
Barrowman J et al.
Human Molecular Genetics, 2012
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
A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.
Sander CS et al.
The British Journal of Dermatology, 2008
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.
Miyoshi Y et al.
Clinical Genetics, 2008
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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