Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Mathieu Castelain"'
1
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Autor: Anne-Claire Richard, Anne Rovelet-Lecrux, Dominique Campion, Sophie Coutant, Kilan Le Guennec, Jean-François Deleuze, Gaëlle Bougeard, Mathieu Castelain, Nathalie Drouot, Pascal Chambon, Stéphanie Vasseur, Thierry Frebourg, Jacqueline Bou, François Lecoquierre, Anne Boland, Géraldine Joly-Helas, Kévin Cassinari, Gaël Nicolas, Stéphane Rousseau, Steeve Fourneaux, Gwendoline Lienard, Edwige Kasper, Myriam Vezain, Pascale Saugier-Veber, Isabelle Tournier, Nathalie Le Meur, Olivier Quenez, Françoise Charbonnier, Emilie Bouvignies, Virginie N'Guyen-Viet, Stéphanie Baert-Desurmont, Sandrine Manase
Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet
International audience; The detection of copy-number variations (CNVs) from NGS data is underexploited as chip-based or targeted techniques are still commonly used. We assessed the performances of a workflow centered on CANOES, a bioinformatics tool
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a6f3ab544384d46aa5c88805403359
https://doi.org/10.1038/s41431-020-0672-2
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4
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations
Autor: Ludivine Beaussire, Nathalie Le Meur, Géraldine Joly-Helas, Anne-Claire Brehin, Anne Boland, Gaël Nicolas, Dominique Campion, Jean-François Deleuze, Pascal Chambon, Anne Rovelet-Lecrux, Kévin Cassinari, Mathieu Castelain, Thierry Frebourg, Nasrin Sarafan-Vasseur, Olivier Quenez, Nicolas Gruchy, Pascale Saugier-Veber, Anne-Marie Guerrot, Alice Goldenberg
Publikováno v: Clinical Chemistry
Clinical Chemistry, American Association for Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
Clinical Chemistry, 2019, 65 (9), pp.1153-1160. ⟨10.1373/clinchem.2019.304246⟩
BACKGROUND Rare copy number variations (CNVs) are a major cause of genetic diseases. Simple targeted methods are required for their confirmation and segregation analysis. We developed a simple and universal CNV assay based on digital PCR (dPCR) and u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026beef772110386c4e3fa402d1fa582
https://hal-normandie-univ.archives-ouvertes.fr/hal-02339190
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5
AtbHLH68 transcription factor contributes to the regulation of ABA homeostasis and drought stress tolerance in Arabidopsis thaliana
Autor: Rozenn Le Hir, Mathieu Castelain, Thomas Moritz, Dipankar Chakraborti, Catherine Bellini, Sylvie Dinant
Publikováno v: Physiologia Plantarum
Physiologia Plantarum, Wiley, 2017, 160 (3), pp.312-327. ⟨10.1111/ppl.12549⟩
Basic helix-loop-helix (bHLH) transcription factors are involved in a wide range of developmental processes and in response to biotic and abiotic stresses. They represent one of the biggest families of transcription factors but only few of them have
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff393f47d98850c00529e95c1bcb84c
https://hal.archives-ouvertes.fr/hal-01594689
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6
The non-DNA-binding bHLH transcription factor PRE3/bHLH135/ATBS1/TMO7 is involved in the regulation of light signaling pathway in Arabidopsis
Autor: Rozenn Le Hir, Catherine Bellini, Mathieu Castelain
Publikováno v: Physiologia Plantarum
Physiologia Plantarum, Wiley, 2012, 145 (3), pp.450-460. ⟨10.1111/j.1399-3054.2012.01600.x⟩
Plant basic Helix-loop-helix (bHLH) proteins are transcription factors that are involved in many developmental mechanisms, including light signaling and hormone homeostasis. Some of them are non-DNA-binding proteins and could act as dominant negative
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd9faeb60e9b6bed0aabbcaee87924c
https://hal.archives-ouvertes.fr/hal-01004170
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7
A possible role of prolyl oligopeptidase during Linum usitatissimum (flax) seed development
Autor: Laurent Gutierrez, Geneviève Conejero, Jean-Luc Verdeil, Mathieu Castelain, O. Van Wuytswinkel
Publikováno v: Plant Biology
Involvement of prolyl oligopeptidases (POPs) in the control of several mammalian peptide hormone signalling pathways has been studied extensively in recent years. POPs are ubiquitous enzymes, but little attention has been paid to understanding their
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ec5edadf32983b76a0e2c45eb4ed6d
http://agritrop.cirad.fr/546630/
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8
Identification of new gene expression regulators speciffically expressed during plant seed maturation
Autor: Olivier Van Wuytswinkel, Geneviève Conejero, Mathieu Castelain, Stéphanie Guénin, Jean-Luc Verdeil, Brigitte Thomasset, Laurent Gutierrez
Publikováno v: Journal of Experimental Botany
Journal of Experimental Botany, Oxford University Press (OUP), 2006, 57, pp.1919-1932
A cDNA-AFLP approach on Linum usitatissimum (flax) was used to identify genes specifically expressed during the seed maturation process. Among the 20 000 cDNA-AFLP tags produced, 486 were selected for their seed-specific expression during maturation.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a95d1f2c037fdace38e789bec0e248cf
https://hal.archives-ouvertes.fr/hal-00083443
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