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.
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: 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.
Aubert Mucca, M. et al. 2021 Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical... J Med Genet - issue: - volume: - pages: jmedgenet-2020-107511.
Lo Barco, T. et al. 2021 SYNGAP1-DEE: A visual sensitive epilepsy OBJECTIVE: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. METHODS: Participants with pathogenic SYNGAP1 variants and available... Clin Neurophysiol - issue: 4 - volume: 132 - pages: 841-850.
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: .