PUBLICATIONS MMG

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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.


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.


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.


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.


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.


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.


Benninger, Y.  et al. 2007

Essential and distinct roles for cdc42 and rac1 in the regulation of Schwann cell biology during peripheral nervous system development

During peripheral nervous system (PNS) myelination, Schwann cells must interpret extracellular cues to sense their environment and regulate their intrinsic developmental program accordingly. The...
J. Cell Biol. - issue: 6 - volume: 177 - pages: 1051-1061.


Golzio, C.  et al. 2007

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an...
Am. J. Hum. Genet. - issue: 6 - volume: 80 - pages: 1179-1187.


Etchevers, H.  et al. 2007

[Genetic and molecular bases of neurocristopathies]

Arch Pediatr - issue: 6 - volume: 14 - pages: 668-672.


Bartoli, M.  et al. 2007

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency

Myostatin is a negative regulator of muscle mass whose inhibition has been proposed as a therapeutic strategy for muscle-wasting conditions. Indeed, blocking myostatin action through different...
Gene Ther. - issue: 9 - volume: 14 - pages: 733-740.


Bajolle, F.  et al. 2007

[Molecular aspects of congenital heart diseases]

Significant advances in the understanding of the molecular and genetic basis of congenital heart disease have emerged from gene inactivation studies in mice and from human genetic investigations. The...
Arch Mal Coeur Vaiss - issue: 5 - volume: 100 - pages: 484-489.


Bartoli, M.  et al. 2007

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency

Myostatin is a negative regulator of muscle mass whose inhibition has been proposed as a therapeutic strategy for muscle-wasting conditions. Indeed, blocking myostatin action through different...
Gene Ther. - issue: 9 - volume: 14 - pages: 733-740.


Baala, L.  et al. 2007

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation...
Nat. Genet. - issue: 4 - volume: 39 - pages: 454-456.


Prall, OWJ.  et al. 2007

An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation

During heart development the second heart field (SHF) provides progenitor cells for most cardiomyocytes and expresses the homeodomain factor Nkx2-5. We now show that feedback repression of Bmp2/Smad1...
Cell - issue: 5 - volume: 128 - pages: 947-959.


Martinovic-Bouriel, J.  et al. 2007

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym...
Am. J. Med. Genet. A - issue: 3 - volume: 143A - pages: 219-228.


Milic, A.  et al. 2007

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. We developed an in vitro...
Neuromuscul. Disord. - issue: 2 - volume: 17 - pages: 148-156.


Milic, A.  et al. 2007

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. We developed an in vitro...
Neuromusc. Disord. - issue: 2 - volume: 17 - pages: 148-156.


Fougerousse, F.  et al. 2007

Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector

alpha-Sarcoglycanopathy (limb-girdle muscular dystrophy type 2D, LGMD2D) is a recessive muscular disorder caused by deficiency in alpha-sarcoglycan, a transmembrane protein part of the...
Mol. Ther. - issue: 1 - volume: 15 - pages: 53-61.


Fougerousse, F.  et al. 2007

Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector

alpha-Sarcoglycanopathy (limb-girdle muscular dystrophy type 2D, LGMD2D) is a recessive muscular disorder caused by deficiency in alpha-sarcoglycan, a transmembrane protein part of the...
Mol. Ther. - issue: 1 - volume: 15 - pages: 53-61.