… (ie mutated transcripts’ aberrant or correct splicing) and, consequently, of global amounts
of progerin produced might be one factor modulating the phenotype severity in LMNA p.G608G …

Little is known about the pathophysiology of human senescence. Hutchinson-Gilford progeria
syndrome (HGPS) is an exceedingly rare but typical progeria, clinically characterized by …

Several human progerias, including Hutchinson-Gilford progeria syndrome (HGPS), are caused
by the accumulation at the nuclear envelope of farnesylated forms of truncated prelamin …

Lamin A-related progeroid syndromes are genetically determined, extremely rare and
severe. In the past ten years, our knowledge and perspectives for these diseases has widely …

… The deletion of exon 11 is predicted to remove 90 aminoacids from the C-terminal end of
the protein precursor, corresponding to a large part of the globular domain (p.G567_Q656del). …

This paper describes the sequence of construction of a cell nuclei classification model by the
analysis, the characterization and the classification of shape and texture. We describe first …

… Berkovic, Edouard Hirsch, Mark Lathrop, Pierre Cau, Pierre Szepetowski, SRPX2 mutations
… Watrin, P. Huppke and P. van Bogaert for their help and contribution and to D. Bisogno and …

… male N 1 (chimeric 129SV–C57Bl6/J-CRE) × wild-type female C57Bl6/J] and compared
paternally deficient mice for Ndn (+m/–p) with wild-type littermates (+m/+p). We chose this …

Progeroid syndromes are heritable human disorders displaying features that recall premature
ageing. In these syndromes, premature aging is defined as “segmental” since only some …

… This transition predicts a nonsense substitution from glutamine to stop in exon 10 (p.…
1249C>T leading to p.Gln417X) and a frameshift cytosine deletion in exon 3 in P12 (c.295delC …