Sophie Leblanc
A5051544124- Bioinformatics and Genomic Networks
- Biomedical Text Mining and Ontologies
- Gene expression and cancer classification
- Single-cell and spatial transcriptomics
- CRISPR and Genetic Engineering
- nanoparticles nucleation surface interactions
- Molecular Biology Techniques and Applications
- Animal Genetics and Reproduction
- Metabolomics and Mass Spectrometry Studies
- Congenital heart defects research
- Fish Ecology and Management Studies
- RNA modifications and cancer
- Urbanization and City Planning
- Gestational Diabetes Research and Management
- Collaborative Teaching and Inclusion
- Garlic and Onion Studies
- Craniofacial Disorders and Treatments
- Animal testing and alternatives
- Urban Design and Spatial Analysis
- Zebrafish Biomedical Research Applications
- Genomics and Rare Diseases
- Ocular Disorders and Treatments
- Urban Planning and Governance
- Allelopathy and phytotoxic interactions
- Bat Biology and Ecology Studies
Université de Strasbourg
2012-2022
Institut Clinique de la Souris
2008-2022
Centre National de la Recherche Scientifique
2012-2022
Institut de génétique et de biologie moléculaire et cellulaire
2012-2022
Inserm
2012-2022
Université Paris-Panthéon-Assas
2022
Université Paris Dauphine-PSL
2022
Virginia Tech
2020-2021
Children's Hospital of Eastern Ontario
2018
Mary Lyon Centre at MRC Harwell
2009
The developmental and physiological complexity of the auditory system is likely reflected in underlying set genes involved function. In humans, over 150 non-syndromic loci have been identified, there are more than 400 human genetic syndromes with a hearing loss component. Over 100 identified mouse human, but we remain ignorant full extent landscape dysfunction. As part International Mouse Phenotyping Consortium, undertook screen cohort 3006 knockout strains. total, identify 67 candidate...
Clinical presentation of congenital heart disease is heterogeneous, making identification the disease-causing genes and their genetic pathways mechanisms action challenging. By using in vivo electrocardiography, transthoracic echocardiography microcomputed tomography imaging to screen 3,894 single-gene-null mouse lines for structural functional cardiac abnormalities, here we identify 705 with arrhythmia, myocardial hypertrophy and/or ventricular dilation. Among these genes, 486 have not been...
The broad aim of biomedical science in the postgenomic era is to link genomic and phenotype information allow deeper understanding processes leading from changes altered disease. EuroPhenome project (http://www.EuroPhenome.org) a comprehensive resource for raw annotated high-throughput phenotyping data arising projects such as EUMODIC. EUMODIC gathering EMPReSSslim pipeline (http://www.empress.har.mrc.ac.uk/) which performed on inbred mouse strains knock-out lines EUCOMM project. interface...
Allicin is a component of the characteristic smell and flavor garlic (Allium sativum). A flavin-containing monooxygenase (FMO) produced by A. sativum (AsFMO) was previously proposed to oxidize S-allyl-l-cysteine (SAC) alliin, an allicin precursor. Here, we present kinetic structural characterization AsFMO that suggests possible contradiction this proposal. Results steady-state analyses revealed exhibited negligible activity with SAC; however, enzyme highly active l-cysteine,...
Zebrafish (Danio rerio) possess orthologues for 84% of the genes known to be associated with human diseases. In addition, these animals have a short generation time, are easy handle, display high reproductive rate, low cost, and easily amenable genetic manipulations by microinjection DNA in embryos. Recent advances gene editing tools enabling precise introduction mutations transgenes zebrafish. Disease modeling zebrafish often leads larval phenotypes early death which can challenging...
Abstract Genes are pleiotropic and getting a better knowledge of their function requires comprehensive characterization mutants. Here, we generated multi-level data combining phenomic, proteomic metabolomic acquisitions from plasma liver tissues two C57BL/6 N mouse models lacking the Lat (linker for activation T cells) Mx2 (MX dynamin-like GTPase 2) genes, respectively. Our dataset consists 9 assays (1 preclinical, 2 proteomics 6 metabolomics) with fully non-targeted standardized approach....
Abstract Motivation High-throughput phenomic projects generate complex data from small treatment and large control groups that increase the power of analyses but introduce variation over time. A method is needed to utlize a set temporally local controls maximizes analytic while minimizing noise unspecified environmental factors. Results Here we ‘soft windowing’, methodological approach selects window time includes most appropriate for analysis. Using phenotype International Mouse Phenotyping...
Abstract Earth’s radiation budget and frequency intensity of precipitation are influenced by aerosols with ice nucleation activity (INA), i.e., particles that catalyze the formation ice. Some bacteria, fungi, pollen among most efficient nucleators but molecular basis INA is poorly understood in them. Lysinibacillus parviboronicapiens (Lp) was previously identified as first Gram-positive bacterium INA. Lp associated a secreted, nanometer-sized, non-proteinaceous macromolecule or particle....
Figure 1.In Fig. 1f, due to a production error, the large panels for Ap4e1 -/-mutant and control were interchanged have been restored.In 1d,
Zebrafish (Danio rerio) possess orthologues for 84% of the genes known to be associated with human diseases. In addition, these animals have a short generation time, are easy handle, display high reproductive rate, low cost, and easily amenable genetic manipulations by microinjection DNA in embryos. Recent advances gene editing tools enabling precise introduction mutations transgenes zebrafish. Disease modeling zebrafish often leads larval phenotypes early death which can challenging...
Major progress has been made over the last decade in identifying novel genes involved neurodevelopmental disorders, although task of elucidating their corresponding molecular and pathophysiological mechanisms, which are an essential prerequisite for developing therapies, fallen far behind. We selected 45 intellectual disabilities to generate characterize mouse models. Thirty-nine them were based on frequency pathogenic variants patients literature reports, with several de novo variants, six...
Abstract Motivation High-throughput phenomic projects generate complex data from small treatment and large control groups that increase the power of analyses but introduce variation over time. A method is needed to utlize a set temporally local controls maximises analytic while minimising noise unspecified environmental factors. Results Here we “soft windowing”, methodological approach selects window time includes most appropriate for analysis. Using phenotype International Mouse Phenotyping...