Search Results - "David, Alexandre"
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1
Human Immune Responses to Adeno-Associated Virus (AAV) Vectors
ISSN: 1664-3224, 1664-3224Published: Switzerland Frontiers 17.04.2020Published in Frontiers in immunology (17.04.2020)“…Recombinant adeno-associated virus (rAAV) vectors are one of the most promising gene delivery tools. Several features make rAAV vectors an ideal platform for…”
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EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension
ISSN: 1061-4036, 1546-1718, 1546-1718Published: New York Nature Publishing Group US 01.01.2014Published in Nature genetics (01.01.2014)“…Florent Soubrier and colleagues identify biallelic mutations in EIF2AK4 as a major cause of pulmonary veno-occlusive disease, a rare form of pulmonary…”
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3
A Novel Channelopathy in Pulmonary Arterial Hypertension
ISSN: 0028-4793, 1533-4406, 1533-4406Published: Waltham, MA Massachusetts Medical Society 25.07.2013Published in The New England journal of medicine (25.07.2013)“…In a family with pulmonary arterial hypertension, whole-exome sequencing led to identification of a mutation in the potassium-channel gene KCNK3 . Additional…”
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4
The ribosome, (slow) beating heart of cancer (stem) cell
ISSN: 2157-9024, 2157-9024Published: London Nature Publishing Group UK 20.04.2018Published in Oncogenesis (New York, NY) (20.04.2018)“…The ribosome has long been considered as a consistent molecular factory, with a rather passive role in the translation process. Recent findings have shifted…”
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5
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis
ISSN: 1538-7836, 1538-7933, 1538-7836Published: England Elsevier Limited 01.10.2021Published in Journal of thrombosis and haemostasis (01.10.2021)“…The implementation of high-throughput sequencing (HTS) technologies in research and diagnostic laboratories has linked many new genes to rare bleeding,…”
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Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity
ISSN: 0009-9163, 1399-0004, 1399-0004Published: Oxford, UK Blackwell Publishing Ltd 01.03.2019Published in Clinical genetics (01.03.2019)“…Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the…”
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Post-transcriptional control of haemostatic genes: mechanisms and emerging therapeutic concepts in thrombo-inflammatory disorders
ISSN: 0008-6363, 1755-3245, 1755-3245Published: US Oxford University Press 06.07.2023Published in Cardiovascular research (06.07.2023)“…Abstract The haemostatic system is pivotal to maintaining vascular integrity. Multiple components involved in blood coagulation have central functions in…”
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8
Maximizing the power of principal-component analysis of correlated phenotypes in genome-wide association studies
ISSN: 1537-6605, 1537-6605Published: United States 01.05.2014Published in American journal of human genetics (01.05.2014)“…Many human traits are highly correlated. This correlation can be leveraged to improve the power of genetic association tests to identify markers associated…”
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9
DNA methylation and body-mass index: a genome-wide analysis
ISSN: 0140-6736, 1474-547X, 1474-547XPublished: Kidlington Elsevier Ltd 07.06.2014Published in The Lancet (British edition) (07.06.2014)“…Obesity is a major health problem that is determined by interactions between lifestyle and environmental and genetic factors. Although associations between…”
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Removing Batch Effects from Longitudinal Gene Expression - Quantile Normalization Plus ComBat as Best Approach for Microarray Transcriptome Data
ISSN: 1932-6203, 1932-6203Published: United States Public Library of Science 07.06.2016Published in PloS one (07.06.2016)“…Technical variation plays an important role in microarray-based gene expression studies, and batch effects explain a large proportion of this noise. It is…”
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11
Tuning the Reactivity of a Heterogeneous Catalyst using N‐Heterocyclic Carbene Ligands for C−H Activation Reactions
ISSN: 1433-7851, 1521-3773, 1521-3773Published: WEINHEIM Wiley 16.11.2020Published in Angewandte Chemie International Edition (16.11.2020)“…We report the dramatic impact of the addition of N‐heterocyclic carbenes (NHCs) on the reactivity and selectivity of heterogeneous Ru catalysts in the context…”
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12
Ultrafast Click Chemistry with Fluorosydnones
ISSN: 1433-7851, 1521-3773, 1521-3773Published: WEINHEIM Blackwell Publishing Ltd 19.09.2016Published in Angewandte Chemie International Edition (19.09.2016)“…We report the synthesis and reactivity of 4‐fluorosydnones, a unique class of mesoionic dipoles displaying exquisite reactivity towards both copper‐catalyzed…”
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13
Effects of Genetically Determined Iron Status on Risk of Venous Thromboembolism and Carotid Atherosclerotic Disease: A Mendelian Randomization Study
ISSN: 2047-9980, 2047-9980Published: England Wiley-Blackwell 06.08.2019Published in Journal of the American Heart Association (06.08.2019)“…Background Systemic iron status has been implicated in atherosclerosis and thrombosis. The aim of this study was to investigate the effect of genetically…”
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14
Impaired balance between neutrophil extracellular trap formation and degradation by DNases in COVID-19 disease
ISSN: 1479-5876, 1479-5876Published: London BioMed Central 07.03.2024Published in Journal of translational medicine (07.03.2024)“…Background Thrombo-inflammation and neutrophil extracellular traps (NETs) are exacerbated in severe cases of COVID-19, potentially contributing to disease…”
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What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies
ISSN: 0007-1048, 1365-2141, 1365-2141Published: England Blackwell Publishing Ltd 01.02.2018Published in British journal of haematology (01.02.2018)“…Summary Venous thromboembolism (VTE) has a strong genetic component. This review summarizes what is known at the seventeen genes that are now well established…”
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16
De novo development of small cyclic peptides that are orally bioavailable
ISSN: 1552-4450, 1552-4469, 1552-4469Published: New York Nature Publishing Group US 01.05.2024Published in Nature chemical biology (01.05.2024)“…Cyclic peptides can bind challenging disease targets with high affinity and specificity, offering enormous opportunities for addressing unmet medical needs…”
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Mechanisms of Acquired Resistance and Tolerance to EGFR Targeted Therapy in Non-Small Cell Lung Cancer
ISSN: 2072-6694, 2072-6694Published: Switzerland MDPI AG 13.01.2023Published in Cancers (13.01.2023)“…Non-small cell lung cancers (NSCLC) harboring activating mutations of the epidermal growth factor receptor (EGFR) are treated with specific tyrosine kinase…”
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18
Transition‐Metal‐Free Carbon Isotope Exchange of Phenyl Acetic Acids
ISSN: 1433-7851, 1521-3773, 1521-3773Published: WEINHEIM Wiley 03.08.2020Published in Angewandte Chemie International Edition (03.08.2020)“…A transition‐metal‐free carbon isotope exchange procedure on phenyl acetic acids is described. Utilizing the universal precursor CO2, this protocol allows the…”
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19
Efficient Access to Deuterated and Tritiated Nucleobase Pharmaceuticals and Oligonucleotides using Hydrogen‐Isotope Exchange
ISSN: 1433-7851, 1521-3773, 1521-3773Published: WEINHEIM Wiley 01.04.2019Published in Angewandte Chemie International Edition (01.04.2019)“…A general approach for the efficient hydrogen‐isotope exchange of nucleobase derivatives is described. Catalyzed by ruthenium nanoparticles, using mild…”
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20
Genome-wide analysis identifies novel susceptibility loci for myocardial infarction
ISSN: 1522-9645, 1522-9645Published: England 01.03.2021Published in European heart journal (01.03.2021)“…While most patients with myocardial infarction (MI) have underlying coronary atherosclerosis, not all patients with coronary artery disease (CAD) develop MI…”
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