MMG PUBLICATIONS

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Results: 3220  publications found.

Lemke, JR.  et al. 2016

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Objective:To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology.Methods:We collected...
Neurology - issue: 23 - volume: 86 - pages: 2171-2178.

Chabab, S.  et al. 2016

Uncovering the Number and Clonal Dynamics of Mesp1 Progenitors During Heart Morphogenesis

The heart arises from distinct sources of cardiac progenitors that independently express Mesp1 during gastrulation. The precise number of Mesp1 progenitors that are specified during the early stage of...
Cell Reports - issue: 14 - volume: 1 - pages: 1-10.

Jebeniani, I.  et al. 2016

Epigenetic Regulation of Cardiac Differentiation of Embryonic Stem Cells and Tissues

Specific gene transcription is a key biological process that underlies cell fate decision during embryonic development. The biological process is mediated by transcription factors which bind genomic...
J Vis Exp - issue: 112 - volume: - pages: .

Jebeniani, I.  et al. 2016

Epigenetic Regulation of Cardiac Differentiation of Embryonic Stem Cells and Tissues

Specific gene transcription is a key biological process that underlies cell fate decision during embryonic development. The biological process is mediated by transcription factors which bind genomic...
J Vis Exp - issue: 112 - volume: - pages: .

Jebeniani, I.  et al. 2016

Epigenetic Regulation of Cardiac Differentiation of Embryonic Stem Cells and Tissues

Specific gene transcription is a key biological process that underlies cell fate decision during embryonic development. The biological process is mediated by transcription factors which bind genomic...
J Vis Exp - issue: 112 - volume: - pages: .

Galant, D.  et al. 2016

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral...
Cells - issue: 2 - volume: 5 - pages: 21.

Hamadou, WS.  et al. 2016

Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies

Familial aggregation of hematological malignancies has been reported highlighting inherited genetic predisposition. In this study, we targeted four candidate genes: JAK2 and RUNX1 genes assuring a...
Ann. Hematol. - issue: 7 - volume: 95 - pages: 1043-1050.

Decarpentrie, F.  et al. 2016

Recombination between the mouse Y chromosome short arm and an additional Y short arm-derived chromosomal segment attached distal to the X chromosome PAR

In a male mouse, meiosis markers of processed DNA double strand breaks (DSBs) such as DMC1 and RAD51 are regularly seen in the non-PAR region of the X chromosome; these disappear late in prophase...
Chromosoma - issue: 2 - volume: 125 - pages: 177-188.

Roux, M.  et al. 2016

Hox Genes in Cardiovascular Development and Diseases

Congenital heart defects (CHD) are the leading cause of death in the first year of life. Over the past 20 years, much effort has been focused on unraveling the genetic bases of CHD. In particular,...
J. Dev. Biol. - issue: 2 - volume: 4 - pages: 14.

Roberts, T.  et al. 2016

Flexible Inkjet-Printed Multielectrode Arrays for Neuromuscular Cartography

Flexible Poly(3,4-ethylenedioxythiophene)-poly(styrenesulfonate) ( PEDOT: PSS) conductive-polymer multielectrode arrays (MEAs) are fabricated without etching or aggressive lift-off processes, only by...
Adv Healthc Mater - issue: 12 - volume: 5 - pages: 1462-1470.

Decarpentrie, F.  et al. 2016

Recombination between the mouse Y chromosome short arm and an additional Y short arm-derived chromosomal segment attached distal to the X chromosome PAR

In a male mouse, meiosis markers of processed DNA double strand breaks (DSBs) such as DMC1 and RAD51 are regularly seen in the non-PAR region of the X chromosome; these disappear late in prophase...
Chromosoma - issue: 2 - volume: 125 - pages: 177-188.

Roberts, T.  et al. 2016

Flexible Inkjet-Printed Multielectrode Arrays for Neuromuscular Cartography

Flexible Poly(3,4-ethylenedioxythiophene)-poly(styrenesulfonate) ( PEDOT: PSS) conductive-polymer multielectrode arrays (MEAs) are fabricated without etching or aggressive lift-off processes, only by...
Adv Healthc Mater - issue: 12 - volume: 5 - pages: 1462-1470.

Francou, B.  et al. 2016

Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study

STUDY QUESTION: What is the exact prevalence of Kisspeptin Receptor (KISS1R) mutations in the population of patients with normosmic congenital hypogonadotrophic hypogonadism (nCHH) by comparison with...
Hum. Reprod. - issue: 6 - volume: 31 - pages: 1363-1374.

Castinetti, F.  et al. 2016

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily...
Eur. J. Endocrinol. - issue: 6 - volume: 174 - pages: R239-247.

Castinetti, F.  et al. 2016

GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency

Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone (GH) hypersecretion from mixed GH-PRL...
Horm. Metab. Res. - issue: 6 - volume: 48 - pages: 389-393.

Rampersad, SN.  et al. 2016

EPAC1 promotes adaptive responses in human arterial endothelial cells subjected to low levels of laminar fluid shear stress: Implications in flow-related endothelial dysfunction

Blood flow-associated fluid shear stress (FSS) dynamically regulates the endothelium's ability to control arterial structure and function. While arterial endothelial cells (AEC) subjected to high...
Cell. Signal. - issue: 6 - volume: 28 - pages: 606-619.

Chiapparo, G.  et al. 2016

Mesp1 Controls the Speed, Polarity, and Directionality of Cardiovascular Progenitor Migration

During embryonic development, Mesp1 marks the earliest cardiovascular progenitors (CPs) and promotes their specification, epithelial-mesenchymal transition (EMT), and cardiovascular differentiation....
J Cell Biol - issue: 213 - volume: 4 - pages: 463-477.

Million, M.  et al. 2016

Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute Malnutrition

Severe acute malnutrition (SAM) is associated with inadequate diet, low levels of plasma antioxidants and gut microbiota alterations. The link between gut redox and microbial alterations, however,...
Sci Rep - issue: - volume: 6 - pages: 26051.

Million, M.  et al. 2016

Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute Malnutrition

Severe acute malnutrition (SAM) is associated with inadequate diet, low levels of plasma antioxidants and gut microbiota alterations. The link between gut redox and microbial alterations, however,...
Sci Rep - issue: - volume: 6 - pages: 26051.

Li, J.  et al. 2016

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We...
Am. J. Hum. Genet. - issue: 5 - volume: 98 - pages: 830-842.