MMG PUBLICATIONS

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Results: 2278  publications found.

Laforest, B.  et al. 2014

Genetic lineage tracing analysis of anterior Hox expressing cells

Cell lineage studies have been widely used in developmental biology to establish which cells, and how many cells, in the early embryo will give rise to a specific structure and its derivatives....
Methods Mol. Biol. - issue: - volume: 1196 - pages: 37-48.


Stefanovic, S.  et al. 2014

GATA-dependent regulatory switches establish atrioventricular canal specificity during heart development

The embryonic vertebrate heart tube develops an atrioventricular canal that divides the atrial and ventricular chambers, forms atrioventricular conduction tissue and organizes valve development. Here...
Nature communications - issue: - volume: 5 - pages: 3680.


Tordjman, S.  et al. 2014

Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms

Several studies support currently the hypothesis that autism etiology is based on a polygenic and epistatic model. However, despite advances in epidemiological, molecular and clinical genetics, the...
Front Psychiatry - issue: - volume: 5 - pages: 53.


Ruparelia, AA.  et al. 2014

The quail anatomy portal

The Japanese quail is a widely used model organism for the study of embryonic development; however, anatomical resources are lacking. The Quail Anatomy Portal (QAP) provides 22 detailed...
Database (Oxford) - issue: 0 - volume: 2014 - pages: bau028.


Tawil, R.  et al. 2014

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

Although the pathophysiology of facioscapulohumeral dystrophy (FSHD) has been controversial over the last decades, progress in recent years has led to a model that incorporates these decades of...
Skelet Muscle - issue: - volume: 4 - pages: 12.


El-Khoury, R.  et al. 2014

GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice

Proper brain functioning requires a fine-tuning between excitatory and inhibitory neurotransmission, a balance maintained through the regulation and release of glutamate and GABA. Rett syndrome (RTT)...
PLoS ONE - issue: 3 - volume: 9 - pages: e92169.


Laforest, B.  et al. 2014

Genetic lineage tracing analysis of anterior Hox expressing cells

Cell lineage studies have been widely used in developmental biology to establish which cells, and how many cells, in the early embryo will give rise to a specific structure and its derivatives....
Methods Mol. Biol. - issue: - volume: 1196 - pages: 37-48.


Croisé, P.  et al. 2014

Rho GTPases, phosphoinositides, and actin: a tripartite framework for efficient vesicular trafficking

Rho GTPases are well known regulators of the actin cytoskeleton that act by binding and activating actin nucleators. They are therefore involved in many actin-based processes, including cell...
Small GTPases - issue: - volume: 5 - pages: e29469.


El-Khoury, R.  et al. 2014

GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice

Proper brain functioning requires a fine-tuning between excitatory and inhibitory neurotransmission, a balance maintained through the regulation and release of glutamate and GABA. Rett syndrome (RTT)...
PLoS ONE - issue: 3 - volume: 9 - pages: e92169.


Laforest, B.  et al. 2014

Genetic lineage tracing analysis of anterior Hox expressing cells

Cell lineage studies have been widely used in developmental biology to establish which cells, and how many cells, in the early embryo will give rise to a specific structure and its derivatives....
Methods Mol. Biol. - issue: - volume: 1196 - pages: 37-48.


Ono, Y.  et al. 2014

The N- and C-terminal autolytic fragments of CAPN3/p94/calpain-3 restore proteolytic activity by intermolecular complementation

CAPN3/p94/calpain-3, a calpain protease family member predominantly expressed in skeletal muscle, possesses unusually rapid and exhaustive autolytic activity. Mutations in the human CAPN3 gene...
Proc. Natl. Acad. Sci. U.S.A. - issue: 51 - volume: 111 - pages: E5527-5536.


Brue, T.  et al. 2014

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

BACKGROUND: DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with...
BMC Med. Genet. - issue: - volume: 15 - pages: 139.


Herbaux, C.  et al. 2014

Incidence of Atrx Mutations in Myelodysplastic Syndromes (MDS)

WOS:000349242701174
Blood - issue: 21 - volume: 124 - pages: .


Kergourlay, V.  et al. 2014

Identification of splicing defects caused by mutations in the dysferlin gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.


Bannwarth, S.  et al. 2014

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

WOS:000346761200004
Brain - issue: - volume: 137 - pages: e312.


Kergourlay, V.  et al. 2014

Identification of splicing defects caused by mutations in the dysferlin gene

Missense, iso-semantic, and intronic mutations are challenging for interpretation, in particular for their impact in mRNA. Various tools such as the Human Splicing Finder (HSF) system could be used to...
Hum. Mutat. - issue: 12 - volume: 35 - pages: 1532-1541.


Bartoli, M.  et al. 2014

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

INTRODUCTION: Autosomal recessive muscular dystrophies are heterogeneous genetic disorders, with 39 genes currently implicated. Genetic diagnosis using targeted single-gene analysis by Sanger...
Muscle Nerve - issue: 6 - volume: 50 - pages: 1007-1010.


Odelin, G.  et al. 2014

Loss of Krox20 results in aortic valve regurgitation and impaired transcriptional activation of fibrillar collagen genes

AIMS: Heart valve maturation is achieved by the organization of extracellular matrix (ECM) and the distribution of valvular interstitial cells. However, the factors that regulate matrix components...
Cardiovasc. Res. - issue: 3 - volume: 104 - pages: 443-455.


Rochais, F.  et al. 2014

FGF10 promotes regional foetal cardiomyocyte proliferation and adult cardiomyocyte cell-cycle re-entry

AIMS: Cardiomyocyte proliferation gradually declines during embryogenesis resulting in severely limited regenerative capacities in the adult heart. Understanding the developmental processes...
Cardiovasc. Res. - issue: 3 - volume: 104 - pages: 432-442.


Badja, C.  et al. 2014

Efficient and Cost-Effective Generation of Mature Neurons From Human Induced Pluripotent Stem Cells

For years, our ability to study pathological changes in neurological diseases has been hampered by the lack of relevant models until the recent groundbreaking work from Yamanaka's group showing that...
Stem Cells Transl. Med. - issue: 12 - volume: 3 - pages: 1467-1472.