MMG PUBLICATIONS

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Results: 3208  publications found.

De Bono, C.  et al. 2025

How to study gene expression and gain of function of Hoxb1 in mouse heart development

Anterior Hox genes are required for genetic identity and anterior posterior patterning of the second heart field (SHF), which contributes to the formation of the embryonic heart in vertebrates....
Methods Mol Biol - issue: - volume: 2889 - pages: 121-137.


Gérard, L.  et al. 2024

MCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied...
Eur J Hum Genet - issue: - volume: - pages: Online ahead of print.


Roubille, S.  et al. 2024

The HUSH epigenetic repressor complex silences PML nuclear body-associated HSV-1 quiescent genomes

Herpes simplex virus 1 (HSV-1) latently infected neurons display diverse patterns in the distribution of the viral genomes within the nucleus. A key pattern involves quiescent HSV-1 genomes...
Proc Natl Acad Sci USA - issue: 49 - volume: 129 - pages: e2412258121.


Argiro, L.  et al. 2024

Gastruloids are competent to specify both cardiac and skeletal muscle lineages

Cardiopharyngeal mesoderm contributes to the formation of the heart and head muscles. However, the mechanisms governing cardiopharyngeal mesoderm specification remain unclear. Here, we reproduce...
Nat Commun - issue: 1 - volume: 15 - pages: 10172.


Sebastian, A.  et al. 2024

A review of cell-free DNA and epigenetics for non-invasive diagnosis in solid organ transplantation

Introduction: Circulating cell-free DNA (cfDNA) is emerging as a non-invasive biomarker in solid organ transplantation (SOT) monitoring and data on its diagnostic potential have been increasing in...
Front Transplant - issue: - volume: - pages: eCollection 2024.


Henderson, D.  et al. 2024

Beyond genomic studies of congenital heart defects through systematic modelling and phenotyping

Congenital heart defects (CHDs), the most common congenital anomalies, are considered to have a significant genetic component. However, despite considerable efforts to identify pathogenic genes in...
Dis Model Mech - issue: 11 - volume: 17 - pages: dmm050913.


Jaouadi, H.  et al. 2024

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Background: Approximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time. ...
Front Med - issue: - volume: 11 - pages: 1480947.


Van Gils, J.  et al. 2024

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome.

Rubinstein-Taybi syndrome (RTS) is a rare and severe genetic developmental disorder characterized by multiple congenital anomalies and intellectual disability. CREBBP and EP300, the two genes known to...
Commun Biol - issue: 1 - volume: 7 - pages: 1331.


Dumas, C.  et al. 2024

Retinoic acid signalling regulates branchiomeric neck muscle development at the head/trunk interface.

Skeletal muscles of the head and trunk originate in distinct lineages with divergent regulatory programmes converging on activation of myogenic determination factors. Branchiomeric head and neck...
Development - issue: 16 - volume: 151 - pages: dev202905.


Giardina, E.  et al. 2024

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of...
Clin Genet - issue: 1 - volume: 06 - pages: 13-26.


Kraoua, L.  et al. 2024

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Background: Dilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It is a leading cause...
Mol Genet Genomic Med - issue: - volume: 6 - pages: e2486.


da Silva, A.  et al. 2024

egr3 is a mechanosensitive transcription factor gene required for cardiac valve morphogenesis

Biomechanical forces, and their molecular transducers, including key mechanosensitive transcription factor genes, such as KLF2, are required for cardiac valve morphogenesis. However, klf2 mutants fail...
Sci Adv - issue: 10 - volume: 20 - pages: eadl0633.


Avierinos, J.  et al. 2024

Degenerative mitral regurgitation due to flail leaflet: sex-related differences in presentation, management, and outcomes

Background and aims: Presentation, outcome, and management of females with degenerative mitral regurgitation (DMR) are undefined. We analysed sex-specific baseline clinical and echocardiographic...
Eur Heart J - issue: - volume: - pages: ehae265.


Murru, C.  et al. 2024

Assessment of laser-synthesized Si nanoparticle effects on myoblast motility, proliferation and differentiation: towards potential tissue engineering applications

Due to their biocompatibility and biodegradability and their unique structural and physicochemical properties, laser-synthesized silicon nanoparticles (Si-NPs) are one of the nanomaterials which have...
Nanoscale Adv - issue: 8 - volume: 6 - pages: 2104-2112..


Caron, L.  et al. 2023

Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity

Neuromuscular disorders (NMDs) are a large group of diseases associated with either alterations of skeletal muscle fibers, motor neurons or neuromuscular junctions. Most of these diseases is...
J Neuromuscul Dis - issue: 5 - volume: 10 - pages: 761-776..


Bernheim, S.  et al. 2023

Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells

Despite their burden, most congenital defects remain poorly understood, due to lack of knowledge of embryological mechanisms. Here, we identify Greb1l mutants as a mouse model of crisscross heart....
Dev Cell - issue: - volume: 23 - pages: 00493-8.


Abellan Lopez, M.  et al. 2023

In vivo efficacy proof of concept of a large-size bioprinted dermo-epidermal substitute for permanent wound coverage

Introduction: An autologous split-thickness skin graft (STSG) is a standard treatment for coverage of full-thickness skin defects. However, this technique has two major drawbacks: the use of general...
Front Bioeng Biotechnol - issue: - volume: 11 - pages: 1217655.


Vergier, J.  et al. 2023

Misconceptions and beliefs around hormone replacement therapy after childhood hematopoietic stem cell transplantation: A qualitative study among women leukemia survivors

PURPOSE: After childhood leukemia and hematopoietic stem cell transplantation, hormone replacement therapy is often required to induce puberty because of premature ovarian insufficiency. Observance of...
PLoS One - issue: 4 - volume: 18 - pages: e0283940.


Castinetti, F.  et al. 2023

HCG-responsive aldosteronoma with transient secretion during pregnancy confirmed through HCG-stimulated adrenal venous sampling

Primary aldosteronism can be regulated by the ectopic expression of G-protein coupled receptors in aldosteronomas or bilateral hyperplasias. We report a rare case of a young woman in whom 2...
Front Endocrinol (Lausanne) - issue: - volume: 14 - pages: 1153374.


Laberthonnière, C.  et al. 2023

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.

Many genetic syndromes are linked to mutations in genes encoding factors that guide chromatin organization. Among them, several distinct rare genetic diseases are linked to mutations in SMCHD1 that...
Nucleic Acids Res - issue: 14 - volume: 51 - pages: 7269-7287.