New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Maria Eriksson, W. Ted Brown, Leslie B. Gordon et al. · Nature · 2003 · 2.2K citations · Full text

Medicine, Genetics, Molecular Genetics +5

Lamin A Truncation in Hutchinson-Gilford Progeria

Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau et al. · Science · 2003 · 1.5K citations

Life Sciences, Anatomy, Pteridology +4

Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

Frank McKeon, Marc W. Kirschner, Daniel Caput · Nature · 1986 · 835 citations

Life Sciences, Cell Biology, Molecular Biology +16

cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.

D Z Fisher, Nilabh Chaudhary, Günter Blobel · Proceedings of the National Academy of Sciences · 1986 · 715 citations

Life Sciences, Biochemistry, Molecular Biology +17