Muchir A - Search Results

1

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.

Chatzifrangkeskou M, Yadin D, Marais T, Chardonnet S, Cohen-Tannoudji M, Mougenot N, Schmitt A, Crasto S, Di Pasquale E, Macquart C, Tanguy Y, Jebeniani I, Pucéat M, Morales Rodriguez B, Goldmann WH, Dal Ferro M, Biferi MG, Knaus P, Bonne G, Worman HJ, Muchir A. Chatzifrangkeskou M, et al. Among authors: muchir a. Hum Mol Genet. 2018 Sep 1;27(17):3060-3078. doi: 10.1093/hmg/ddy215. Hum Mol Genet. 2018. PMID: 29878125 Free PMC article.

2

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Muchir A, et al. Hum Mol Genet. 2000 May 22;9(9):1453-9. doi: 10.1093/hmg/9.9.1453. Hum Mol Genet. 2000. PMID: 10814726

3

High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.

Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D. Bécane HM, et al. Among authors: muchir a. Pacing Clin Electrophysiol. 2000 Nov;23(11 Pt 1):1661-6. doi: 10.1046/j.1460-9592.2000.01661.x. Pacing Clin Electrophysiol. 2000. PMID: 11138304

4

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Novelli G, et al. Among authors: muchir a. Am J Hum Genet. 2002 Aug;71(2):426-31. doi: 10.1086/341908. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075506 Free PMC article.

5

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.

Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G. Muchir A, et al. Exp Cell Res. 2003 Dec 10;291(2):352-62. doi: 10.1016/j.yexcr.2003.07.002. Exp Cell Res. 2003. PMID: 14644157

6

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G. Muchir A, et al. Muscle Nerve. 2004 Oct;30(4):444-50. doi: 10.1002/mus.20122. Muscle Nerve. 2004. PMID: 15372542

7

The nuclear envelope and human disease.

Muchir A, Worman HJ. Muchir A, et al. Physiology (Bethesda). 2004 Oct;19:309-14. doi: 10.1152/physiol.00022.2004. Physiology (Bethesda). 2004. PMID: 15381760 Free article. Review.

8

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.

van Engelen BG, Muchir A, Hutchison CJ, van der Kooi AJ, Bonne G, Lammens M. van Engelen BG, et al. Among authors: muchir a. Neurology. 2005 Jan 25;64(2):374-6. doi: 10.1212/01.WNL.0000149763.15180.00. Neurology. 2005. PMID: 15668447

9

Genetics of laminopathies.

Ben Yaou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G. Ben Yaou R, et al. Among authors: muchir a. Novartis Found Symp. 2005;264:81-90; discussion 90-97, 227-30. Novartis Found Symp. 2005. PMID: 15773749 Review.

10

Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins.

Muchir A, Massart C, van Engelen BG, Lammens M, Bonne G, Worman HJ. Muchir A, et al. Biochem Biophys Res Commun. 2006 Dec 29;351(4):1011-7. doi: 10.1016/j.bbrc.2006.10.147. Epub 2006 Nov 3. Biochem Biophys Res Commun. 2006. PMID: 17097067 Free PMC article.

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