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Results: 2262  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: .

Pio-Lopez, L.  et al. 2021

MultiVERSE: a multiplex and multiplex-heterogeneous network embedding approach

Abstract Network embedding approaches are gaining momentum to analyse a large variety of networks. Indeed, these approaches have demonstrated their effectiveness in tasks...
Sci Rep - issue: 1 - volume: 11 - pages: 8794.

Salvi, A.  et al. 2021

Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle

Front Physiol - issue: - volume: 12 - pages: 663677.

Charnay, T.  et al. 2021

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

PURPOSE: Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics. As...
Genet Med - issue: - volume: - pages: .

Salvi, A.  et al. 2021

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases

STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi-allelic...
Clin Genet - issue: - volume: - pages: .

Etchevers, HC.  et al. 2021

Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins

The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include...
Methods Mol Biol - issue: 10.1007/978-1-0716-1056-5_6 - volume: 2235 - pages: 61-87.

Haniffa, M.  et al. 2021

Human Developmental Cell Atlas: milestones achieved and the roadmap ahead

The Human Developmental Cell Atlas (HDCA), as part of the Human Cell Atlas, aims to generate a comprehensive reference map of cells during development. This detailed study of development will be...
Nature - issue: - volume: - pages: in review.

Cerino, M.  et al. 2020

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

Ann Clin Transl Neurol - issue: 12 - volume: 7 - pages: 2538-2540.

Oei, W.  et al. 2020

Development of an international core domain set for medium, large and giant congenital melanocytic nevi as a first step towards a core outcome set for clinical practice and research

Br J Dermatol - issue: - volume: - pages: bjd.19694.

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.