MMG PUBLICATIONS

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Results: 2318  publications found.

Saywell, V.  et al. 2006

Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism

Rett syndrome, a neurodevelopmental X-linked disorder, represents the most important genetic cause of severe mental retardation in the female population and results from a mutation in the gene...
Biochem. Biophys. Res. Commun. - issue: 3 - volume: 340 - pages: 776-783.


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.


Philippe, C.  et al. 2006

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update

Mutations in the MECP2 (Methyl-CpG-binding protein) gene have been reported to cause Rett syndrome (RTT), an X-linked progressive encephalopathy. Recent studies have identified large gene...
Eur J Med Genet - issue: 1 - volume: 49 - pages: 9-18.


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.


Villard, L.  et al. 2006

[Noradrenaline deficiency as the origin of respiratory disorders in Rett syndrome an animal model]

Med Sci (Paris) - issue: 1 - volume: 22 - pages: 81-83.


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.


HAS, .  et al. 2005

avis_ald_rapport.pdf

- issue: - volume: - pages: .


Iurov, II.  et al. 2005

[Epigenetic study of Rett's syndrome as an adequate model for autistic disorders]

Rett's syndrome (RTT) is a severe hereditary disorder of the nervous system. MECP2 gene mutations are considered as a primary cause of the disease. In the present study, we have found MECP2 mutations...
Zh Nevrol Psikhiatr Im S S Korsakova - issue: 7 - volume: 105 - pages: 4-11.


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.


Viemari, J.  et al. 2005

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

Rett syndrome is a severe X-linked neurological disorder in which most patients have mutations in the methyl-CpG binding protein 2 (MECP2) gene and suffer from bioaminergic deficiencies and...
J. Neurosci. - issue: 50 - volume: 25 - pages: 11521-11530.


Chabrol, B.  et al. 2005

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families

Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. Abnormalities of the posterior fossa with cerebellar...
Am. J. Med. Genet. A - issue: 4 - volume: 138 - pages: 314-317.


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.