Diseases of the nuclear envelope, Cold Spring Harb Perspect Biol, vol.2, p.760, 2010. ,
Lamin a truncation in HutchinsonGilford progeria, Science, vol.300, p.2055, 2003. ,
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome, Nature, vol.423, pp.293-298, 2003. ,
The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers, Hum Mol Genet, vol.15, pp.1113-1122, 2006. ,
URL : https://hal.archives-ouvertes.fr/hal-00019639
DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A, J Cell Sci, vol.119, pp.4644-4649, 2006. ,
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging, Proc Natl Acad Sci, vol.103, pp.8703-8708, 2006. ,
Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging, Proc Natl Acad Sci, vol.104, pp.4955-4960, 2007. ,
, Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging, vol.30, pp.2301-2309, 2010.
Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody, Proc Natl Acad Sci, vol.103, pp.2154-2159, 2006. ,
Lamin A-dependent nuclear defects in human aging, Science, vol.312, pp.1059-1063, 2006. ,
Coronary artery disease in a Werner syndromelike form of progeria characterized by low levels of progerin, a splice variant of lamin A, Am J Med Genet A, vol.155, pp.3002-3006, 2011. ,
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome, J Med Genet, vol.41, p.67, 2004. ,
An association of HutchinsonGilford progeria and malignancy, Am J Med Genet A, vol.143, pp.1821-1826, 2007. ,
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes, Hum Mutat, vol.28, pp.882-889, 2007. ,
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy, Hum Mol Genet, vol.13, pp.2493-2503, 2004. ,
URL : https://hal.archives-ouvertes.fr/hal-01668977
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn, Eur J Hum Genet, vol.20, pp.933-937, 2012. ,
Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging, Eur J Hum Genet, vol.17, pp.928-937, 2009. ,
A standard curve based method for relative real time PCR data processing, BMC Bioinform, vol.6, p.62, 2005. ,
Locus Reference Genomic sequences: an improved basis for describing human DNA variants, Genome Med, vol.2, p.24, 2010. ,
URL : https://hal.archives-ouvertes.fr/inserm-00668222
Low and high expressing alleles of the LMNA gene: implications for laminopathy disease development, PLoS One, vol.6, p.25472, 2011. ,
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome, Proc Natl Acad Sci, vol.101, pp.8963-8968, 2004. ,
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors, Hum Mol Genet, vol.14, pp.1503-1513, 2005. ,
URL : https://hal.archives-ouvertes.fr/hal-01669073
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging, Nat Med, vol.14, pp.767-772, 2008. ,
URL : https://hal.archives-ouvertes.fr/inserm-00376425
Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies, Diabetes, vol.56, pp.884-889, 2007. ,
Common variation in LMNA increases susceptibility to type 2 diabetes and associates with elevated fasting glycemia and estimates of body fat and height in the general population: studies of 7,495 Danish whites, Diabetes, vol.56, pp.694-698, 2007. ,
LMNA rs4641 and the muscle lamin A and C isoforms in twins-metabolic implications and transcriptional regulation, J Clin Endocrinol Metab, vol.95, pp.3884-3892, 2010. ,
Evaluating the association of common LMNA variants with type 2 diabetes and quantitative metabolic phenotypes in French Europids, Diabetologia, vol.51, pp.76-81, 2008. ,
Polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the DESIR prospective study, J Mol Med (Berl), vol.88, pp.193-201, 2010. ,
Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects, Diabetes, vol.56, pp.879-883, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00173686
Splicing-directed therapy in a new mouse model of human accelerated aging, Sci Transl Med, vol.3, pp.106-107, 2011. ,