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Résultats : 2250  publications trouvées.

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


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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.

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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Mailleux, AA.  et al. 2005

Fgf10 expression identifies parabronchial smooth muscle cell progenitors and is required for their entry into the smooth muscle cell lineage

Lineage formation in the lung mesenchyme is poorly understood. Using a transgenic mouse line expressing LacZ under the control of Fgf10 regulatory sequences, we show that the pool of Fgf10-positive...
Development - issue: 9 - volume: 132 - pages: 2157-2166.

Cai, J.  et al. 2005

Gene expression in pharyngeal arch 1 during human embryonic development

Craniofacial abnormalities are one of the most common birth defects in humans, but little is known about the human genes that control these important developmental processes. To identify relevant...
Hum. Mol. Genet. - issue: 7 - volume: 14 - pages: 903-912.

Aubourg, P.  et al. 2005

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

J. Med. Genet. - issue: 3 - volume: 42 - pages: 253-259.