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Results: 2478  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.

Khasawneh, R.  et al. 2021

Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype.

Background Successful embryogenesis relies on the coordinated interaction between genes and tissues. The transcription factors Pax9 and Msx1 genetically interact during mouse craniofacial...
BMC Dev Biol - issue: 21 - volume: 14 - pages: .

Bensimon-Brito, A.  et al. 2021

Integration of multiple imaging platforms to uncover cardiovascular defects in adult zebrafish

Aims: Mammalian models have been instrumental in investigating adult heart function and human disease. However, electrophysiological differences with human hearts and high costs motivate the need for...
Cardiovasc Res - issue: - volume: - pages: Online ahead of print..

Tarasco, M.  et al. 2021

New insights into benzo[⍺]pyrene osteotoxicity in zebrafish

Persistent and ubiquitous organic pollutants, such as the polycyclic aromatic hydrocarbon benzo[⍺]pyrene (BaP), represent a major threat to aquatic organisms and human health. Beside some...
Ecotoxicol Environ Saf - issue: - volume: 226 - pages: 112838..

Haniffa, M.  et al. 2021

A roadmap for the Human Developmental Cell Atlas

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: 7875 - volume: 597 - pages: 196-205.

Novoa-del-Toro, EM.  et al. 2021

A multi-objective genetic algorithm to find active modules in multiplex biological networks

The identification of subnetworks of interest—or active modules—by integrating biological networks with molecular profiles is a key resource to inform on the processes perturbed in different cellular...
PLoS Comput Biol - issue: 8 - volume: 17 - pages: e1009263.

Theron, A.  et al. 2021

Clinical insights into a tertiary care center cohort of patients with bicuspid aortic valve

Although bicuspid aortic valve (BAV) is one of the most common congenital heart diseases, clinical data associated with valve dysfunction are still limited. We evaluated clinical characteristics and...
Int J Cardiovasc Imaging - issue: - volume: - pages: .

de la Fouchardière A, BF.  et al. 2021

Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities

Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the...
Dermatopathology - issue: 8 - volume: 3 - pages: 301-314.

Pucéat, M.  et al. 2021

Capturing Chromosome Conformation

The genome is organized in 3D topology-associated domains to ensure proper gene transcriptional processes. The chromosome conformation capture (3C) is an affordable method to investigate local...
Methods Mol Biol - issue: - volume: 2157 - pages: 1-7.

Jdila, MB.  et al. 2021

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

BACKGROUND: Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently...
Orphanet J Rare Dis - issue: 1 - volume: 16 - pages: 317.

Srivastava, S.  et al. 2021

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

In humans, de novo truncating variants in WASF1 (Wiskott-Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic...
Brain Sci - issue: 7 - volume: 11 - pages: 931.

Iqbal, M.  et al. 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

PURPOSE: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. METHODS: We...
Genet Med - issue: - volume: - pages: .

Le Roux, M.  et al. 2021

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly...
Eur J Paediatr Neurol - issue: - volume: 33 - pages: 75-85.

Gentile, A.  et al. 2021

The EMT transcription factor Snai1 maintains myocardial wall integrity by repressing intermediate filament gene expression.

The transcription factor Snai1, a well-known regulator of epithelial-to-mesenchymal transition, has been implicated in early cardiac morphogenesis as well as in cardiac valve formation. However, a...
eLife - issue: - volume: 10 - pages: e66143.

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.

Saultier, P.  et al. 2021

GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis

BACKGROUND: GATA1 is an essential transcription factor for both polyploidization and megakaryocyte (MK) differentiation. The polyploidization defect observed in GATA1 variant carriers is not well...
J Thromb Haemost - issue: - volume: - pages: .

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: .

Ehinger, Y.  et al. 2021

Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome

Mutations in the X-linked MECP2 gene are responsible for Rett syndrome (RTT), a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes,...
Int J Mol Sci - issue: 9 - volume: 22 - pages: 4316.

Stefanovic, S.  et al. 2021

Outflow tract formation - Embryonic origins of conotruncal congenital heart disease

Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the...
J Cardiovasc Dev Dis. - issue: 8 - volume: 4 - pages: 42.