Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies-Reference-Cited by-同舟云学术

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

Published:2004-11-17 Issue:1 Volume:14 Page:155-169
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Arimura Takuro,Helbling-Leclerc Anne,Massart Catherine,Varnous Shaida,Niel Florence,Lacène Emmanuelle,Fromes Yves,Toussaint Marcel,Mura Anne-Marie,Keller Dagmar I.,Amthor Helge,Isnard Richard,Malissen Marie,Schwartz Ketty,Bonne Gisèle

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/14/1/155/6949136/ddi017.pdf

Reference59 articles.

1. Foisner, R. ( 2003 ) Cell cycle dynamics of the nuclear envelope. Sci. World J. , 3 , 1 –20.

2. Hutchison, C.J. ( 2002 ) Lamins: building blocks or regulators of gene expression? Nat. Rev. Mol. Cell. Biol. , 3 , 848 –858.

3. Bonne, G., Di Barletta, M.R., Varnous, S., Becane, H., Hammouda, E.H., Merlini, L., Muntoni, F., Greenberg, C.R., Gary, F., Urtizberea, J.A. et al. ( 1999 ) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery–Dreifuss muscular dystrophy. Nat. Genet. , 21 , 285 –288.

4. Fatkin, D., MacRae, C., Sasaki, T., Wolff, M.R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H.J., Spudich, S., De Girolami, U. et al. ( 1999 ) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N. Engl. J. Med. , 341 , 1715 –1724.

5. Muchir, A., Bonne, G., van der Kooi, A.J., van Meegen, M., Baas, F., Bolhuis, P.A., de Visser, M. and Schwartz, K. ( 2000 ) Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum. Mol. Genet. , 9 , 1453 –1459.

Cited by 284 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic and Pathophysiological Basis of Cardiac and Skeletal Muscle Laminopathies;Genes;2024-08-20

2. The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models;Pharmaceuticals;2024-08-05

3. Multi-level transcriptomic analysis ofLMNA-related dilated cardiomyopathy identifies disease-driving processes;2024-06-13

4. Eliminating elevated p53 signaling fails to rescue skeletal muscle defects or extend survival in lamin A/C-deficient mice;Cell Death Discovery;2024-05-22

5. Perinuclear damage from nuclear envelope deterioration elicits stress responses that contribute to LMNA cardiomyopathy;Science Advances;2024-05-10