MMG PUBLICATIONS

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Results: 2478  publications found.

Mencarelli, MA.  et al. 2010

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder representing one of the most common genetic causes of mental retardation in girls. The classic form is caused by MECP2 mutations. In...
J. Med. Genet. - issue: 1 - volume: 47 - pages: 49-53.


Barro, M.  et al. 2010

Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects

Facioscapulohumeral dystrophy (FSHD) is a muscular hereditary disease with a prevalence of 1 in 20,000 caused by a partial deletion of a subtelomeric repeat array on chromosome 4q. However, very...
J. Cell. Mol. Med. - issue: 1-2 - volume: 14 - pages: 275-289.


Wein, N.  et al. 2010

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

Dysferlinopathies are autosomal recessive muscular dystrophies caused by DYSF mutations, which lead to a reduced amount or a complete lack of dysferlin. One step in dysferlinopathies diagnosis...
Neuromuscul. Disord. - issue: 1 - volume: 20 - pages: 57-60.


Wein, N.  et al. 2010

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

Dysferlinopathies are autosomal recessive muscular dystrophies caused by DYSF mutations, Which lead to a reduced amount or a complete lack of dysferlin. One step in dysferlinopathies diagnosis...
Neuromusc. Disord. - issue: 1 - volume: 20 - pages: 57-60.


Bootsma, RJ.  et al. 2009

The (current) future is here!

Perception - issue: 6 - volume: 38 - pages: 851; discussion 858.


Bringoux, L.  et al. 2009

Interaction between reference frames during subjective vertical estimates in a tilted immersive virtual environment

Numerous studies highlighted the influence of a tilted visual frame on the perception of the visual vertical ('rod-and-frame effect' or RFE). Here, we investigated whether this influence can be...
Perception - issue: 7 - volume: 38 - pages: 1053-1071.


Bonnet, D.  et al. 2009

[Embryological and genetic mechanisms of cardiac great arteries malformations]

Developmental genetics of congenital heart diseases have evolved from analysis of embryonic hearts towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development....
J. Soc. Biol. - issue: 2 - volume: 203 - pages: 161-165.


Mellgren, RL.  et al. 2009

Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases

Mechanically damaged plasma membrane undergoes rapid calcium-dependent resealing that appears to depend, at least in part, on calpain-mediated cortical cytoskeletal remodeling. Cells null for Capns1,...
Biochim. Biophys. Acta - issue: 12 - volume: 1793 - pages: 1886-1893.


Mellgren, RL.  et al. 2009

Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases

Mechanically damaged plasma membrane undergoes rapid calcium-dependent resealing that appears to depend, at least in part, on calpain-mediated cortical cytoskeletal remodeling. Cells null for Capns1,...
Biochim. Biophys. Acta-Mol. Cell Res. - issue: 12 - volume: 1793 - pages: 1886-1893.


Bessi, .  et al. 2009

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases

Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with...
Eur J Med Genet - issue: 6 - volume: 52 - pages: 386-392.


Solé, G.  et al. 2009

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

Bilateral periventricular nodular heterotopia (BPNH) is the most common form of periventricular heterotopia. Mutations in FLNA, encoding filamin A, are responsible for the X linked dominant form of...
J. Neurol. Neurosurg. Psychiatry - issue: 12 - volume: 80 - pages: 1394-1398.


, .  et al. 2009

Consensus guidance for banking and supply of human embryonic stem cell lines for research purposes.

Stem Cell Rev Rep - issue: 4 - volume: 5 - pages: 301-314.


Gaudy-Marqueste, C.  et al. 2009

LMNA, ZMPSTE24, and LBR are not mutated in scleroderma

Scleroderma is a rare multisystemic disease of unknown etiology presumed to develop in genetically predisposed patients. Since patients affected with scleroderma develop clinical features similar to...
Genet Test Mol Biomarkers - issue: 5 - volume: 13 - pages: 635-639.


Stefanovic, S.  et al. 2009

Interplay of Oct4 with Sox2 and Sox17: a molecular switch from stem cell pluripotency to specifying a cardiac fate

Oct4 exerts a dose-dependent dual action, as both a gatekeeper for stem cell pluripotency and in driving cells toward specific lineages. Here, we identify the molecular mechanism underlying this dual...
The Journal of cell biology - issue: 5 - volume: 186 - pages: 665-73.


Cantagrel, V.  et al. 2009

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation

We previously identified an inactivating disruption of the X-linked KIAA2022 gene by a chromosomal rearrangement in two male patients with severe mental retardation. In order to determine if KIAA2022...
Gene Expr. Patterns - issue: 6 - volume: 9 - pages: 423-429.


Ottaviani, A.  et al. 2009

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF

The localization of genes within the nuclear space is of paramount importance for proper genome functions. However, very little is known on the cis-acting elements determining subnuclear positioning...
EMBO J. - issue: 16 - volume: 28 - pages: 2428-2436.


de Pontual, L.  et al. 2009

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either...
Proc. Natl. Acad. Sci. U.S.A. - issue: 33 - volume: 106 - pages: 13921-13926.


Haddad, M.  et al. 2009

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

Moderate mental retardation (MR) could affect up to 3% of the general population. A proportion of these cases has a genetic origin. Genes responsible for mental retardation can be identified taking...
Eur J Med Genet - issue: 4 - volume: 52 - pages: 211-217.


Serradj, N.  et al. 2009

The adaptation of limb kinematics to increasing walking speeds in freely moving mice 129/Sv and C57BL/6

The kinematics of locomotion was analyzed in two strains of great importance for the creation of mutated mice (C56BL/6 and 129/Sv). Different behavioral situations were used to trigger sequences of...
Behav. Brain Res. - issue: 1 - volume: 201 - pages: 59-65.


Horard, B.  et al. 2009

Global analysis of DNA methylation and transcription of human repetitive sequences

Half of the human genome consists of repetitive DNA sequences. Recent studies in various organisms highlight the role of chromatin regulation of repetitive DNA in gene regulation as well as in...
Epigenetics - issue: 5 - volume: 4 - pages: 339-350.