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2022
146 publication(s):
Note: when necessary, only the first 5 authors are displayed.
Articles
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
- Amélie Cordovado, Martina Schaettin, Mederic Jeanne, Veranika Panasenkava, Anne‐sophie Denommé‐pichon et al.
- Human Molecular Genetics, 2022, 31 (19), pp.3325-3340.
- DOI : https://doi.org/10.1093/hmg/ddac114
- Pubmed : 35604360
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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
- Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, Blanca Gener, Isabelle Bailleul-Forestier et al.
- Genetics in Medicine, 2022, 24 (12), pp.2475-2486.
- DOI : https://doi.org/10.1016/j.gim.2022.09.002
- Pubmed : 36197437
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Skraban-Deardorff Syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype
- Auriane Cospain, Elise Schaefer, Marie Faoucher, Christèle Dubourg, Wilfrid Carré et al.
- European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.256-256.
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Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant
- Auriane Cospain, Marie Faoucher, Aurelie Cauchois, Wilfrid Carre, Chloe Quelin et al.
- Pediatric and developmental pathology, 2022, 25 (5), pp.548-552.
- DOI : https://doi.org/10.1177/10935266221095305
- Pubmed : 35481434
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Drug transporters are implicated in the diffusion of tacrolimus into the T lymphocyte in kidney and liver transplant recipients: Genetic, mRNA, protein expression, and functionality
- Gwendal Coste, Fabien Robin, Jonathan Chemouny, Camille Tron, Jérôme Le Priol et al.
- Drug Metabolism and Pharmacokinetics, 2022, 47, pp.100473.
- DOI : https://doi.org/10.1016/j.dmpk.2022.100473
- Pubmed : 36166890
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Chlamydia trachomatis development requires both host glycolysis and oxidative phosphorylation but has only minor effects on these pathways
- Maimouna D N’gadjaga, Stéphanie Perrinet, Michael G Connor, Giulia Bertolin, Gael A. Millot et al.
- Journal of Biological Chemistry, 2022, 298 (9), pp.102338.
- DOI : https://doi.org/10.1016/j.jbc.2022.102338
- Pubmed : 35931114
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The RNA-binding proteins CELF1 and ELAVL1 cooperatively control the alternative splicing of CD44
- Géraldine David, David Reboutier, Stéphane Deschamps, Agnès Méreau, William Taylor et al.
- Biochemical and Biophysical Research Communications, 2022, 626, pp.79-84.
- DOI : https://doi.org/10.1016/j.bbrc.2022.07.073
- Pubmed : 35973378
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- 28 -
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UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking
- Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophélie Nicolle et al.
- Journal of Clinical Investigation, 2022, 132 (10),
- DOI : https://doi.org/10.1172/JCI154997
- Pubmed : 35575086
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An integrative analysis using iCLIP-seq and RNA-Seq to identify genes post-transcriptionally regulated by the cataract-linked RNA-binding protein CELF1 in the lens
- Matthieu Duot, Yann Audic, Agnès Méreau, Archana Siddam, Deepti Anand et al.
- Investigative Ophthalmology & Visual Science, 2022, 63 (7), pp.647.
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The genome and diet of a 35,000-year-old Canis lupus specimen from the Paleolithic painted cave, Chauvet-Pont d'Arc, France
- Jean-Marc Elalouf, Pauline Palacio, Céline Bon, Veronique Berthonaud, Frédéric Maksud et al.
- Ecology and Evolution, 2022, 12 (8), pp.e9238.
- DOI : https://doi.org/10.1002/ece3.9238
- Pubmed : 37265549
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