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2022

International refereed journal articles

21 - 

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, Isabelle Meyts, Guillaume Jouret, Bertrand Isidor, Carole Brewer, Wim Wuyts, Leen Moens, Selket Delafontaine, Wayne Wing Keung Lam, Kris van den Bogaert, Anneleen Boogaerts et al.

Genetics in Medicine, 2022, 24 (12), pp.2475-2486.

DOI : https://doi.org/10.1016/j.gim.2022.09.002

Pubmed : 36197437

 

22 - 

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, Varoona Bizaoui-Rambhajunsing, Jessica Assoumani, Lionel van Maldergem, Amélie Piton, Bénédicte Gerard, Frédéric Tran Mau-Them, Ange-Line Bruel, Laurence Faivre, Florence Demurger, Laurent Pasquier et al.

European Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.256-256.

 

23 - 

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, Christele Dubourg

Pediatric and developmental pathology, 2022, 25 (5), pp.548-552.

DOI : https://doi.org/10.1177/10935266221095305

Pubmed : 35481434

 

24 - 

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, Regis Bouvet, Marc Le Vée, Pauline Houssel‐debry, Michel Rayar, Marie-Clémence Verdier, Mikaël Roussel, Marie-Dominique Galibert, Edouard Bardou-Jacquet, Olivier Fardel, Cécile Vigneau et al.

Drug Metabolism and Pharmacokinetics, 2022, 47, pp.100473.

DOI : https://doi.org/10.1016/j.dmpk.2022.100473

Pubmed : 36166890

 

25 - 

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, Agathe Subtil

Journal of Biological Chemistry, 2022, 298 (9), pp.102338.

DOI : https://doi.org/10.1016/j.jbc.2022.102338

Pubmed : 35931114

 

26 - 

The RNA-binding proteins CELF1 and ELAVL1 cooperatively control the alternative splicing of CD44

Géraldine David, David Reboutier, Stéphane Deschamps, Agnès Méreau, William Taylor, Sergi Padilla-Parra, Marc Tramier, Yann Audic, Luc Paillard

Biochemical and Biophysical Research Communications, 2022, 626, pp.79-84.

DOI : https://doi.org/10.1016/j.bbrc.2022.07.073

Pubmed : 35973378

 

27 - 

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, Celine Revenu de Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Julia Baptista, Maxime M Mahe, M Hess et al.

Journal of Clinical Investigation, 2022, 132 (10),

DOI : https://doi.org/10.1172/JCI154997

Pubmed : 35575086

 

28 - 

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, Carole Gautier-Courteille, David Reboutier, Justine Viet, Catherine Le Goff-Gaillard, Salil Anil Lachke, Luc Paillard

Investigative Ophthalmology & Visual Science, 2022, 63 (7), pp.647.

 

29 - 

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, Thomas W. Stafford, Christophe Hitte

Ecology and Evolution, 2022, 12 (8), pp.e9238.

DOI : https://doi.org/10.1002/ece3.9238

Pubmed : 37265549

 

30 - 

A Mechanism Sensing Paracellular Diffusion Barrier Alteration Triggers ESCRT-III-Dependent Adhesive and Mechanical Changes in Drosophila Epithelial Cells

Thomas Esmangart de Bournonville, Mariusz Jaglarz, Roland Le Borgne

A Mechanism Sensing Paracellular Diffusion Barrier Alteration Triggers ESCRT-III-Dependent Adhesive and Mechanical Changes in Drosophila Epithelial Cells. SSRN Electronic Journal, 2022,

DOI : https://doi.org/10.2139/ssrn.4078232