MMG PUBLICATIONS

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Results: 3220  publications found.

Benayoun, B.  et al. 2008

NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in the cysteine protease calpain 3 (CAPN3) that leads to selective muscle wasting. We previously...
FASEB J. - issue: 5 - volume: 22 - pages: 1521-1529.

Benayoun, B.  et al. 2008

NF-kappa B-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

Limb-girdle muscular dystrophy type 2A (LGMD2A) is a recessive genetic disorder caused by mutations in the cysteine protease calpain 3 (CAPN3) that leads to selective muscle wasting. We previously...
Faseb J. - issue: 5 - volume: 22 - pages: 1521-1529.

Bartoli, M.  et al. 2008

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

Limb girdle muscular dystrophy type 2D (LGMD2D, OMIM600119) is a genetic progressive myopathy that is caused by mutations in the human alpha-sarcoglycan gene (SGCA). Here, we have introduced in mice...
Hum. Mol. Genet. - issue: 9 - volume: 17 - pages: 1214-1221.

Bajolle, F.  et al. 2008

[Haemodynamic induces aortic arch asymmetry]

Med Sci (Paris) - issue: 4 - volume: 24 - pages: 354-356.

Bringoux, L.  et al. 2008

Judging beforehand the possibility of passing under obstacles without motion: the influence of egocentric and geocentric frames of reference

Previous studies have shown that the perception of the earth-based visual horizon, also named Gravity Referenced Eye Level (GREL), is modified by body tilt around a trans-ocular axis. Here, we...
Exp Brain Res - issue: 4 - volume: 185 - pages: 673-680.

Galli, D.  et al. 2008

Atrial myocardium derives from the posterior region of the second heart field, which acquires left-right identity as Pitx2c is expressed

Splanchnic mesoderm in the region described as the second heart field (SHF) is marked by Islet1 expression in the mouse embryo. The anterior part of this region expresses a number of markers,...
Development - issue: 6 - volume: 135 - pages: 1157-1167.

Ryckebusch, L.  et al. 2008

Retinoic acid deficiency alters second heart field formation

Retinoic acid (RA), the active derivative of vitamin A, has been implicated in various steps of cardiovascular development. The retinaldehyde dehydrogenase 2 (RALDH2) enzyme catalyzes the second...
Proc. Natl. Acad. Sci. U.S.A. - issue: 8 - volume: 105 - pages: 2913-2918.

Manni, F.  et al. 2008

Do surname differences mirror dialect variation?

Our focus in this paper is the analysis of surnames, which have been proven to be reliable genetic markers because in patrilineal systems they are transmitted along generations virtually unchanged,...
Hum. Biol. - issue: 1 - volume: 80 - pages: 41-64.

Ottaviani, A.  et al. 2008

Telomeric position effect: from the yeast paradigm to human pathologies?

Alteration of the epigenome is associated with a wide range of human diseases. Therefore, deciphering the pathways that regulate the epigenetic modulation of gene expression is a major milestone for...
Biochimie - issue: 1 - volume: 90 - pages: 93-107.

Bajolle, F.  et al. 2008

Myocardium at the base of the aorta and pulmonary trunk is prefigured in the outflow tract of the heart and in subdomains of the second heart field

Outflow tract myocardium in the mouse heart is derived from the anterior heart field, a subdomain of the second heart field. We have recently characterized a transgene (y96-Myf5-nlacZ-16), which is...
Dev. Biol. - issue: 1 - volume: 313 - pages: 25-34.

Viola, A.  et al. 2007

Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model

BACKGROUND: Rett syndrome (RS) is the leading cause of profound mental retardation of genetic origin in girls. Since RS is mostly caused by mutations in the MECP2 gene, transgenic animal models such...
PLoS ONE - issue: 1 - volume: 2 - pages: e157.

Danièle, N.  et al. 2007

Ins and outs of therapy in limb girdle muscular dystrophies

Muscular dystrophies are hereditary degenerative muscle diseases that cause life-long disability in patients. They comprise the well-known Duchenne Muscular Dystrophy (DMD) but also the group of Limb...
Int. J. Biochem. Cell Biol. - issue: 9 - volume: 39 - pages: 1608-1624.

Daniele, N.  et al. 2007

Ins and outs of therapy in limb girdle muscular dystrophies

Muscular dystrophies are hereditary degenerative muscle diseases that cause life-long disability in patients. They comprise the well-known Duchenne Muscular Dystrophy (DMD) but also the group of Limb...
Int. J. Biochem. Cell Biol. - issue: 9 - volume: 39 - pages: 1608-1624.

Berberian, B.  et al. 2007

Dynamics of visuo-spatial remembering: a study of information structuring in memory

We studied the process by which learning a pattern of motor activity reaches a steady-state characterized by a reduction in fluctuations. The stimuli consisted of eight visually presented dots that...
Cogn Process - issue: 4 - volume: 8 - pages: 245-260.

Moncla, A.  et al. 2007

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

Overexpression of the C-type natriuretic peptide, encoded by the NPPC gene in 2q37.1, was recently reported in a patient presenting an overgrowth phenotype and a balanced t(2;7)(q37.1;q21.3)...
Hum. Mutat. - issue: 12 - volume: 28 - pages: 1183-1188.

Lo, PCH.  et al. 2007

The Drosophila Hand gene is required for remodeling of the developing adult heart and midgut during metamorphosis

The Hand proteins of the bHLH family of transcriptional factors play critical roles in vertebrate cardiogenesis. In Drosophila, the single orthologous Hand gene is expressed in the developing...
Dev. Biol. - issue: 2 - volume: 311 - pages: 287-296.

de Pontual, L.  et al. 2007

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...
Eur. J. Cancer - issue: 16 - volume: 43 - pages: 2366-2372.

de Pontual, L.  et al. 2007

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...
Eur. J. Cancer - issue: 16 - volume: 43 - pages: 2366-2372.

Roux, J.  et al. 2007

[Pharmacological treatment of Rett syndrome improves breathing and survival in a mouse model]

Med Sci (Paris) - issue: 10 - volume: 23 - pages: 805-807.

Delague, V.  et al. 2007

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies characterized by muscle weakness and wasting, foot and hand...
Am. J. Hum. Genet. - issue: 1 - volume: 81 - pages: 1-16.