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Results: 2252  publications found.

Cantini, L.  et al. 2021

Benchmarking joint multi-omics dimensionality reduction approaches for the study of cancer

High-dimensional multi-omics data are now standard in biology. They can greatly enhance our understanding of biological systems when effectively integrated.
Nature Comm - issue: 1 - volume: 12 - pages: .

Calbet-Llopart, N.  et al. 2020

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies...
Pigment Cell Melanoma Res - issue: 5 - volume: 33 - pages: 685-694.

Macagno, N.  et al. 2020

Cutaneous Melanocytic Tumors With Concomitant NRASQ61R and IDH1R132C Mutations: A Report of 6 Cases

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and limbs...
Am. J. Surg. Pathol. - issue: 10 - volume: 44 - pages: 1398-1405.

Cerino, M.  et al. 2020

Refining NGS diagnosis of muscular disorders

In our original publication by Sevy et al,1 we described a cohort of patients affected with distal myopathy analysed by a large gene panel approach. Given the rapid evolution of genomic diagnostic...
J. Neurol. Neurosurg. Psychiatry - issue: - volume: - pages: .

Seipelt, EM.  et al. 2020

Prenatal maternal vitamin D deficiency sex-dependently programs adipose tissue metabolism and energy homeostasis in offspring.

In utero environment is crucial to ensure normal development of the fetus and to program metabolic health throughout the life. Beside macronutrients, the role of micronutrients, including vitamin D,...
FASEB J - issue: - volume: in press - pages: .

Elouej, S.  et al. 2020

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations...
Nat Comm - issue: 11 - volume: 1 - pages: 4589.

Faure, E.  et al. 2020

Side-dependent effect in the response of valve endothelial cells to bidirectional shear stress

Endothelial cells covering the aortic and ventricular sides of the aortic valve leaflets are exposed to different stresses, in particular wall shear stress (WSS). Biomechanical stimuli actively...
Int J Cardiol - issue: - volume: 20 - pages: 33657-3.

Stefanovic, S.  et al. 2020

Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation

Perturbation of addition of second heart field (SHF) cardiac progenitor cells to the poles of the heart tube results in congenital heart defects (CHD). The transcriptional programs and upstream...
eLife - issue: - volume: 9 - pages: e55124.

Pitrez, P.  et al. 2020

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disease in children that leads to early death. Smooth muscle cells (SMCs) are the most affected cells in HGPS individuals, although the...
Nat Comm - issue: 1 - volume: 11 - pages: 4110.

Cerino, M.  et al. 2020

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy

BACKGROUND: GLE1 (GLE1, RNA Export Mediator, OMIM#603371) variants are associated with severe autosomal recessive motor neuron diseases, that are lethal congenital contracture syndrome 1 (LCCS1,...
Mol Genet Genomic Med - issue: 8 - volume: 8 - pages: e1277.

Dionnet, E.  et al. 2020

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. To explore an often-overlooked splicing effect of missense variants, we developed...
Hum. Mutat. - issue: - volume: - pages: .

Fontana, F.  et al. 2020

Antagonistic Activities of Vegfr3/Flt4 and Notch1b Fine-tune Mechanosensitive Signaling during Zebrafish Cardiac Valvulogenesis.

The formation of cardiac valves depends on mechanical forces exerted by blood flow. Endocardial cells lining the interior of the heart are sensitive to these stimuli and respond by rearranging into...
Cell Rep - issue: 2 - volume: 32 - pages: 107883.

Mégarbané, A.  et al. 2020

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome

We report on a multiply consanguineous Syrian family where two siblings, a boy and a girl, presented with a compilation of symptoms including developmental delay, severe intellectual disability,...
Am. J. Med. Genet. A - issue: - volume: - pages: e61730.

Mazaleyrat, K.  et al. 2020

Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.

Induced pluripotent stem cells (iPSCs) obtained by reprogramming primary somatic cells have revolutionized the fields of cell biology and disease modeling. However, the number protocols for generating...
Cells - issue: 6 - volume: 9 - pages: 1531.

Sánchez-Valle, J.  et al. 2020

Interpreting molecular similarity between patients as a determinant of disease comorbidity relationships

Comorbidity is a medical condition attracting increasing attention in healthcare and biomedical research. Little is known about the involvement of potential molecular factors leading to the emergence...
Nature Comm - issue: 1 - volume: 11 - pages: 2854.

Suffee, N.  et al. 2020

Reactivation of the Epicardium at the Origin of Myocardial Fibro-Fatty Infiltration During the Atrial Cardiomyopathy.

Rationale: Fibro-fatty infiltration of subepicardial layers of the atrial wall has been shown to contribute to the substrate of atrial fibrillation. Objective: Here, we examined if the epicardium...
Circ Res - issue: 10 - volume: 126 - pages: 1330-1342.

Bizzari, S.  et al. 2020

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

We have previously reported on a consanguineous family where 2 siblings, a girl and a boy, presented with tall stature, long and triangular faces, prominent forehead, telecanthus, ptosis, everted...
Eur J Med Genet - issue: 5 - volume: 63 - pages: 103869.

Milh, M.  et al. 2020

A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment

OBJECTIVE: Early onset epileptic encephalopathy with suppression-burst is one of the most severe epilepsy phenotypes in human patients. A significant proportion of cases have a genetic origin, and the...
Epilepsia - issue: 5 - volume: 61 - pages: 868-878.

Cerino, M.  et al. 2020

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

AIMS: The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the...
Neuropathol. Appl. Neurobiol. - issue: - volume: - pages: .

Mazaleyrat, K.  et al. 2020

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic...
Int J Mol Sci - issue: 7 - volume: 21 - pages: 2635.