Laminopathies : un seul gène, de nombreuses pathologies
Author:
Publisher
EDP Sciences
Subject
General Biochemistry, Genetics and Molecular Biology
Link
http://www.biologie-journal.org/10.1051/jbio/2011017/pdf
Reference86 articles.
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3. Arimura T., Helbling-Leclerc A., Massart C., Varnous S., Niel F., Lacene E., Fromes Y., Toussaint M., Mura A.M., Keller D.I., Amthor H., Isnard R., Malissen M., Schwartz K., Bonne G., Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.Hum Mol Genet, 2005, 14, 155–169.
4. Bécane H.-M., Bonne G., Varnous S., Muchir A., Ortega V., Hammouda E.H., Urtizberea J.-A., Lavergne T., Fardeau M., Eymard B., Weber S., Schwartz K., Duboc D., High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.Pacing Clin Electrophysiol, 2000, 23, 1661–1666.
5. Ben-Harush K., Wiesel N., Frenkiel-Krispin D., Moeller D., Soreq E., Aebi U., Herrmann H., Gruenbaum Y., Medalia O., The supramolecular organization of theC. elegansnuclear lamin filament.J Mol Biol, 2009, 386, 1392–1402.
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1. Lipodystrophic laminopathies: Diagnostic clues;Nucleus;2018-04-16
2. Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations;Ageing Research Reviews;2017-01
3. Berardinelli-Seip Syndrome - A Case Report;Serbian Journal of Dermatology and Venereology;2016-06-01
4. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies;Journal of Human Genetics;2013-10-24
5. Lamine C2 et spermatogenèse;Basic and Clinical Andrology;2012-09-08
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