PUBLICATIONS MMG

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Résultats : 1708  publications trouvées.

Duguez, S.  et al. 2006

Calpain 3: a key regulator of the sarcomere?

Calpain 3 is a 94-kDa calcium-dependent cysteine protease mainly expressed in skeletal muscle. In this tissue, it localizes at several regions of the sarcomere through binding to the giant protein,...
FEBS J. - issue: 15 - volume: 273 - pages: 3427-3436.


Marguerie, A.  et al. 2006

Congenital heart defects in Fgfr2-IIIb and Fgf10 mutant mice

OBJECTIVE: Myocardial progenitor cells expressing Fgf10 give rise to the outflow tract and right ventricle of the mammalian heart. In order to define the role of fibroblast growth factor (FGF)...
Cardiovasc. Res. - issue: 1 - volume: 71 - pages: 50-60.


Sanlaville, D.  et al. 2006

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and...
J. Med. Genet. - issue: 3 - volume: 43 - pages: 211-217.


Bajolle, F.  et al. 2006

Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries

Congenital heart defects frequently involve a failure of outflow tract (OFT) formation during development. We analyzed the remodeling of the OFT, using the y96-Myf5-nlacZ-16 transgene, which marks a...
Circ. Res. - issue: 3 - volume: 98 - pages: 421-428.


Bartoli, M.  et al. 2006

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A

Calpainopathy (limb-girdle muscular dystrophy type 2A, LGMD2A) is a recessive muscular disorder caused by deficiency in the calcium-dependent cysteine protease calpain 3. To date, no treatment exists...
Mol. Ther. - issue: 2 - volume: 13 - pages: 250-259.


Bartoli, M.  et al. 2006

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A

Calpainopathy (limb-girdle muscular dystrophy type 2A, LGMD2A) is a recessive muscular disorder caused by deficiency in the calcium-dependent cysteine protease calpain 3. To date, no treatment exists...
Mol. Ther. - issue: 2 - volume: 13 - pages: 250-259.


Relaix, F.  et al. 2006

Pax3 and Pax7 have distinct and overlapping functions in adult muscle progenitor cells

The growth and repair of skeletal muscle after birth depends on satellite cells that are characterized by the expression of Pax7. We show that Pax3, the paralogue of Pax7, is also present in both...
J. Cell Biol. - issue: 1 - volume: 172 - pages: 91-102.


Bartoli, M.  et al. 2006

Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies

Muscular dystrophies are a genetically and phenotypically heterogeneous group of degenerative muscle diseases. A subset of them are due to genetic deficiencies in proteins which form the...
Gene Ther. - issue: 1 - volume: 13 - pages: 20-28.


Bartoli, M.  et al. 2006

Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies

Muscular dystrophies are a genetically and phenotypically heterogeneous group of degenerative muscle diseases. A subset of them are due to genetic deficiencies in proteins which form the...
Gene Ther. - issue: 1 - volume: 13 - pages: 20-28.


Auriol, E.  et al. 2005

Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus

The methyl-CpG binding domain (MBD) proteins are key molecules in the interpretation of DNA methylation signals leading to gene silencing. We investigated their binding specificity at the...
Nucleic Acids Res. - issue: 13 - volume: 33 - pages: 4243-4254.


Etchevers, HC.  et al. 2005

The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo

NF-E2-related factor 3 (Nrf3) is a recently identified member of a family of transcription factors homologous to the Drosophila "cap 'n' collar" or CNC protein. The cnc gene is located immediately 3'...
Int. J. Dev. Biol. - issue: 2-3 - volume: 49 - pages: 363-367.


Defossez, P.  et al. 2005

The human enhancer blocker CTC-binding factor interacts with the transcription factor Kaiso

CTC-binding factor (CTCF) is a DNA-binding protein of vertebrates that plays essential roles in regulating genome activity through its capacity to act as an enhancer blocker. We performed a yeast...
J. Biol. Chem. - issue: 52 - volume: 280 - pages: 43017-43023.


Buckingham, M.  et al. 2005

Building the mammalian heart from two sources of myocardial cells

Cardiogenesis is an exquisitely sensitive process. Any perturbation in the cells that contribute to the building of the heart leads to cardiac malformations, which frequently result in the death of...
Nat. Rev. Genet. - issue: 11 - volume: 6 - pages: 826-835.


Bartoli, M.  et al. 2005

Calpains in muscle wasting

Calpains are intracellular nonlysosomal Ca(2+)-regulated cysteine proteases. They mediate regulatory cleavages of specific substrates in a large number of processes during the differentiation, life...
Int. J. Biochem. Cell Biol. - issue: 10 - volume: 37 - pages: 2115-2133.


Bartoli, M.  et al. 2005

Calpains in muscle wasting

Calpains are intracellular nonlysosomal Ca2+-regulated cysteine proteases. They mediate regulatory cleavages of specific substrates in a large number of processes during the differentiation, life and...
Int. J. Biochem. Cell Biol. - issue: 10 - volume: 37 - pages: 2115-2133.


Montarras, D.  et al. 2005

Direct isolation of satellite cells for skeletal muscle regeneration

Muscle satellite cells contribute to muscle regeneration. We have used a Pax3(GFP/+) mouse line to directly isolate (Pax3)(green fluorescent protein)-expressing muscle satellite cells, by flow...
Science - issue: 5743 - volume: 309 - pages: 2064-2067.


Zaffran, S.  et al. 2005

The homeodomain of Tinman mediates homo- and heterodimerization of NK proteins

Cardiac development requires the action of transcription factors, which control the specification and differentiation of cardiac cell types. One of these factors, encoded by the homeobox gene tinman...
Biochem. Biophys. Res. Commun. - issue: 2 - volume: 334 - pages: 361-369.


Deak, KL.  et al. 2005

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been...
Hum. Genet. - issue: 2-3 - volume: 117 - pages: 133-142.


Detrait, E.  et al. 2005

[Vascularization of the head and neck during development]

One of the earliest priorities of the embryonic vascular system is to ensure the metabolic needs of the head. This review covers some of the principles that govern the cellular assembly and...
J Neuroradiol - issue: 3 - volume: 32 - pages: 147-156.


Detrait, ER.  et al. 2005

Human neural tube defects: developmental biology, epidemiology, and genetics

Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are...
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