2019

Auteurs

 

RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome.

Belbachir N, Portero V, Al Sayed ZR, Gourraud JB, Dilasser F, Jesel L, Guo H, Wu H, Gaborit N, Guilluy C, Girardeau A, Bonnaud S, Simonet F, Karakachoff M, Pattier S, Scott C, Burel S, Marionneau C, Chariau C, Gaignerie A, David L, Genin E, Deleuze JF, Dina C, Sauzeau V, Loirand G, Baró I, Schott JJ, Probst V, Wu JC, Redon R, Charpentier F, Le Scouarnec S.

European Heart Journal, Volume 40, Issue 37, 1 October 2019, Pages 3081–3094, https://doi.org/10.1093/eurheartj/ehz308
 

Phenotypic and genotypic approach of a large family with early onset tricuspid aortic valve sclerosis-stenosis: A multimodality evaluation.

Guimbretiere G, Le Scouarnec S, Rigade S, Boureau AS, Cueff C, Capoulade R, Dina C, Mérot J, Schott JJ, Le Tourneau T

Archives of Cardiovascular Diseases Supplements, January 2019  11(1):66-67 | https://doi.org/10.1016/j.acvdsp.2018.10.145
 

Genetic association analyses highlight IL6, ALPL, and NAV1 as three new susceptibility genes underlying calcific aortic valve stenosis.

S. Thériault, C. Dina, D. Messika-Zeitoun, S. Le Scouarnec, R. Capoulade, N. Gaudreault, S. Rigade, Z. Li, F. Simonet, M. Lamontagne, M.A. Clavel, B. J. Arsenault, A.S. Boureau, S. Lecointe, E. Baron, S. Bonnaud, M. Karakachoff, E. Charpentier, I. Fellah, J.C. Roussel, J.P. Verhoye, C. Baufreton, V. Probst, R. Roussel, the D.E.S.I.R. Study Group, R. Redon, F. Dagenais, P. Pibarot, P. Mathieu, T. Le Tourneau, Y. Bossé, J.J. Schott

BioRxiv 2019 | doi: https://doi.org/10.1101/515494
 

Remerciements

 

Characterization of Norovirus and Other Human Enteric Viruses in Sewage and Stool Samples Through Next-Generation.

Strubbia S, Phan V. T. M, Schaeffer J, Koopmans M, Cotten M, Le Guyader F.

Food Environ Virol. 2019 Aug 24. doi: 10.1007/s12560-019-09402-3
 

Low‐dose pesticide mixture induces accelerated mesenchymal stem cells aging in vitro

Leveque X, Hochane M, Geraldo F, Dumont S, Gratas C, Oliver L, Gaignier C, Trichet V, Layrolle P, Heymann D, Herault O, Vallette F, Olivier C.

STEM CELLS Volume 37, Issue 8| https://doi:10.1002/stem.3014
 

Fate of two strains of extended-spectrum beta-lactamase producing Escherichia coli in constructed wetland microcosm sediments: survival and change in antibiotic resistance profiles

Vivant, AL; Boutin, C; Prost-Boucle, S; Papias, S; Ziebal, C; Pourcher, AM.

WATER SCIENCE AND TECHNOLOGY 79 ; 8 : 1550-1560 APR 15 2019 DOI: 10.2166/wst.2019.153
 

US immigration is associated with rapid and persistent acquisition of antibiotic resistance genes in the gut.

Quentin Le Bastard, Pajau Vangay, Eric Batard, Dan Knights, Emmanuel Montassier

Clinical Infectious Diseases, ciz1087, https://doi.org/10.1093/cid/ciz1087
 

Targeted Next Generation Sequencing to study insert stability in genetically modified plants.

A.L. Boutigny, A. Barranger, C. De Boisséson, Y. Blanchard and M. Rolland

Sci Rep 9, 2308 (2019) doi:10.1038/s41598-019-38701-9
 

Rapid genetic and phenotypic changes in Pseudomonas aeruginosa clinical strains during ventilator-associated pneumonia.

E. Persyn, M. Sassi, M.Aubry, M. Broly, S. Delanou, K. Asehnoune, N. Caroff and L. Crémet

Scientific Reports volume 9: 4720 (2019) https://doi.org/10.1038/s41598-019-41201-5
 

One year prospective survey of azole resistance in Aspergillus fumigatus at a French cystic fibrosis reference centre: prevalence and mechanisms of resistance.

R -A Lavergne, F Morio, I Danner-Boucher, D Horeau-Langlard, V David, F Hagen ,J F Meis, P Le Pape

Journal of Antimicrobial Chemotherapy, dkz144, https://doi.org/10.1093/jac/dkz144

2018

Auteurs

 

The impact of a fine-scale population stratification on rare variant association test results.

Persyn E, Redon R, Bellanger L, Dina C.

PLOS One 13(12): e0207677, December 2018 | doi: https://doi.org/10.1371/journal.pone.0207677

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

M Lenglet, F Robriquet, K Schwarz, C Camps, A Couturier, D Hoogewijs, A Buffet, S J. L. Knight, S Gad, S Couvé, F Chesnel, M Pacault, P Lindenbaum, S Job, S Dumont, T Besnard, M Cornec, H Dreau, M Pentony, E Kvikstad, S Deveaux, N Burnichon, S Ferlicot, M Vilaine, JM Mazzella, F Airaud, C Garrec, L Heidet, S Irtan, E Mantadakis, K Bouchireb, K-M Debatin, R Redon, S Bezieau, B Bressac-de Paillerets, BT Teh, F Girodon, M-L Randi, M Caterina Putti, V Bours, R Van Wijk, J R. Göthert, A Kattamis, N Janin, C Bento, J C. Taylor, Y Arlot-Bonnemains, S Richard, A-P Gimenez-Roqueplo, H Cario and B Gardie
Blood 2018 132:469-483, September 2018 | doi: https://doi.org/10.1182/blood-2018-03-838235


Transcriptional orchestration of mitochondrial homeostasis in a cellular model of PGC-1-related coactivator-dependent thyroid tumor.

Dumont S, Le Pennec S, Donnart A, Teusan R, Steenman M, Chevalier C, Houlgatte R and Savagner F
Oncotarget, 2018 Mar 23;9(22):15883-15894 | https://doi.org/10.18632/oncotarget.24633
 

An intermediate level of CD161 expression defines a novel activated, inflammatory, and pathogenic subset of CD8+ T cells involved in multiple sclerosis. 

Nicol B, Salou M, Vogel I, Garcia A, Dugast E, Morille J, Kilens S, Charpentier E, Donnart

A, Nedellec S, Jacq-Foucher M, Le Frère F, Wiertlewski S, Bourreille A, Brouard S, Michel L, David L, Gourraud PA, Degauque N, Nicot AB, Berthelot L, Laplaud DA.

Journal of Autoimmunity. Volume 88, March 2018, Pages 61-74. https://doi.org/10.1016/j.jaut.2017.10.005
 

Parallel derivation of isogenic human primed and naive induced pluripotent stem cells.

Kilens S, Meistermann D, Moreno D, Chariau C, Gaignerie A, Reignier A, Lelièvre Y, Casanova M, Vallot C, Nedellec S, Flippe L, Firmin J, Song J, Charpentier E, Lammers J, Donnart A, Marec N, Deb W, Bihouée A, Le Caignec C, Pecqueur C, Redon R, Barrière P, Bourdon J, Pasque V, Soumillon M, Mikkelsen TS, Rougeulle C, Fréour T, David L and The Milieu Intérieur Consortium
Nat Commun. 2018 Jan 24;9(1):360 | https://doi.org/10.1038/s41467-017-02107-w

Ex vivo expanded human non-cytotoxic CD8+CD45RClow/- tregs efficiently delay skin graft rejection and GVHD in humanized mice.

S. Bézie, D. Meistermann, L. Boucault, S. Kilens, J. Zoppi, E. Autrusseau, A. Donnart, V. Nerrière-Daguin, F. Bellier-Waast, E. Charpentier, F. Duteille, L. David, I. Anegon and C. Guillonneau
Front Immunol, 24 January 2018 | https://doi.org/10.3389/fimmu.2017.02014
 

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm

Bourcier R, Le Scouarnec S, Bonnaud S, Karakachoff M, Bourcereau E, Heurtebise-Chrétien S, Menguy C, Dina C, Simonet F, Moles A, Lenoble C, Lindenbaum P, Chatel S, Isidor B, Génin E, Deleuze JF, Schott JJ
The American Journal of Human Genetics, Volume 102, Issue 1, 4 January 2018, Pages 133–141 | https://doi.org/10.1016/j.ajhg.2017.12.006
 

Remerciements

 

Comparative analysis of five Mucor species transcriptomes.

A. Lebretona, L. Meslet-Cladièrea, S. Morin-Sardina, E. Cotona, JL. Janya, G. Barbiera, E. Corre

Genomics: 111; 6, December 2019, Pages 1306-1314 https://doi.org/10.1016/j.ygeno.2018.09.003
 

Implication of molecular vascular smooth muscle cell heterogeneity among arterial beds in arterial calcification

Espitia O, Chatelais M, Steenman M, Charrier C, Maurel B, Georges S, Houlgatte R, Verrecchia F, Ory B, Lamoureux F, Heymann D, Gouëffic Y, Quillard T.

PLOS One, January 26, 2018 | https://doi.org/10.1371/journal.pone.0191976

Blood Gene Expression Predicts Bronchiolitis Obliterans Syndrome

R Danger, PJ Royer, D Reboulleau, E Durand, J Loy, A Tissot, P Lacoste, A Roux, M Reynaud-Gaubert, C Gomez, R Kessler, S Mussot, C Dromer, O Brugière, JF Mornex, R Guillemain, M Dahan, C Knoop, K Botturi, A Foureau, C Pison, A Koutsokera, L Nicod, S Brouard, A Magnan and The COLT and SysCLAD Consortia.
Front. Immunol., 11 January 2018 |
https://doi.org/10.3389/fimmu.2017.01841

2017

Auteurs

 

An intermediate level of CD161 expression defines a novel activated, inflammatory, and pathogenic subset of CD8+ T cells involved in multiple sclerosis.

Nicol B, Salou M, Vogel I, Garcia A, Dugast E, Morille J, Kilens S, Charpentier E, Donnart A, Nedellec S, Jacq-Foucher M, Le Frère F, Wiertlewski S, Bourreille A, Brouard S, Michel L, David L, Gourraud PA, Degauque N, Nicot AB, Berthelot L, Laplaud DA.

J Autoimmun, Oct 2017 | https://doi.org/10.1016/j.jaut.2017.10.005
 

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

Persyn E, Karakachoff M, Le Scouarnec S, Le Clézio C, Campion D, Schott J-J, Redon R, Bellanger L, Dina C

PLOS, July 2017 | https://doi.org/10.1371/journal.pone.0179364
 

Transient antibody targeting of CD45RC induces transplant tolerance and potent antigenspecific regulatory T cells.

Picarda E, Bézie S, Boucault L, Autrusseau E, Kilens S, Meistermann D, Martinet B, Daguin V, Donnart A, Charpentier E, David L, Anegon I, Guillonneau C.

JCI Insight. 2017 Feb 9;2(3):e90088. doi: 10.1172/jci.insight.90088
 

Remerciements

 

Preparation for emergence of an Eastern European porcine reproductive and respiratory syndrome virus (PRRSV) strain in Western Europe: immunization with modified live virus vaccines or a field strain confers partial protection.

Renson P, Fablet C, Le Dimna M, Mahé S, Touzain F, Blanchard Y, Paboeuf F, Rose N, Bourry O

Veterinary Microbiology (2017) | https://doi.org/10.1016/j.vetmic.2017.04.021
 

Accurate identification and quantification of DNA species by next-generation sequencing in adeno-associated viral vectors produced in insect cells.

Penaud-Budloo M, Lecomte E, Guy-Duché A, Saleun S, Roulet A, Lopez-Roques C, Tournaire B, Cogné B, Léger A, Blouin V, Lindenbaum P, Moullier P, Ayuso E

Human Gene Therapy Methods, May 2017 | https://doi.org/10.1016/j.omtm.2018.01.002
 

Severe symptomatic primary HCMV infection despite effective innate and adaptive immune responses.

Riou R, Bressollette-Bodin C, Boutoille D, Katia Gagne, Rodallec A, Lefebvre M, Raffi F, Senitzer D, Imbert-Marcille B-M and Retière C

J. Virol. March 2017  Volume 91  Issue 5  e02245-16  DOI: 10.1128/JVI.02245-16
 

Severe symptomatic primary HCMV infection despite effective innate and adaptive immune responses. 

Riou R, Bressollette-Bodin C, Boutoille D, Katia Gagne, Rodallec A, Lefebvre M, Raffi F, Senitzer D, Imbert-Marcille B-M and Retière C

J Virol. 2017 Feb 14;91(5). pii: e02245-16. doi: 10.1128/JVI.02245-16

2016

Auteurs

 

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta.

Sanchez-Castro M, Eldjouzi H, Charpentier E, Busson PF, Hauet Q, Lindenbaum P, Delasalle-Guyomarch B, Baudry A, Pichon O, Pascal C, Lefort B, Bajolle F, Pezard P, Schott JJ, Dina C, Redon R, Gournay V, Bonnet D, Le Caignec C.

Circ Cardiovasc Genet. 2016 Feb;9(1):86-94. doi: 10.1161/CIRCGENETICS.115.001213
 

De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability.

Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Latypova X, Caignec CL, Cogné B, Mercier S, Vincent M, Colin E, Bonneau D, Denommé AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Bézieau S.

Hum Mutat 37:354–358, 2016 DOI: 10.1002/humu.22952
 

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.

Daumy X, Amarouch MY, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, Nafzger S, Baron E, Fouchard S, Thollet A, Kyndt F, Barc J, Le Scouarnec S, Makita N, Le Marec H, Dina C, Gourraud JB, Probst V, Abriel H, Redon R, Schott JJ

Int J Cardiol. 2016 Mar 15;207:349-58. doi: 10.1016/j.ijcard.2016.01.052
 

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. 

Rimbert A, Pichelin M, Lecointe S, Marrec M, Le Scouarnec S, Barrak E, Croyal M, Krempf M, Le Marec H, Redon R, Schott JJ, Magré J, Cariou B

Atherosclerosis. 2016 Apr 11;250:52-56. https://doi.org/10.1016/j.atherosclerosis.2016.04.010
 

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. 

Sanchez-Castro M, Eldjouzi H, Charpentier E, Busson PF, Hauet Q, Lindenbaum P, Delasalle-Guyomarch B, Baudry A, Pichon O, Pascal C, Lefort B, Bajolle F, Pezard P, Schott JJ, Dina C, Redon R, Gournay V, Bonnet D, Le Caignec C.

Circ Cardiovasc Genet. 2016 Feb;9(1):86-94. doi: 10.1161/CIRCGENETICS.115.001213
 

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.

Portero V, Le Scouarnec S, Es-Salah-Lamoureux Z, Burel S, Gourraud JB, Bonnaud S, Lindenbaum P, Simonet F, Violleau J, Baron E, Moreau E, Scott C, Chatel S, Loussouarn G, O'Hara T, Mabo P, Dina, Le Marec , Schott JJ, Probst , Baró , Marionneau , Charpentier , Redon  R

J Am Heart Assoc. 2016 Jun 10;5(6). pii: e003122. doi: 10.1161/JAHA.115.003122.
 

Remerciements

 

Oyster reproduction is affected by exposure to polystyrene microplastics.

Rossana Sussarellua,1, Marc Suqueta, Yoann Thomasa, Christophe Lamberta, Caroline Fabiouxa, Marie Eve Julie Perneta, Nelly Le Goïca, Virgile Quilliena, Christian Minganta, Yanouk Epelboina, Charlotte Corporeaua, Julien Guyomarchb, Johan Robbensc, Ika Paul-Ponta, Philippe Soudanta, and Arnaud Huvet

Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):2430-5. doi: 10.1073/pnas.1519019113
 

A comparison of zirconium phosphonate modified surfaces for immobilizing phosphopeptides and phosphate-tagged proteins.

Florian Forato, Hao Liu, Roland BENOIT, Franck Fayon, Cathy Charlier, Amina Fateh, Alain Defontaine, Charles Tellier, Daniel R. Talham, Clemence Queffelec, and Bruno Bujoli

Langmuir. 2016 Jun 7;32(22):5480-90. doi: 10.1021/acs.langmuir.6b01020
 

Free water surface constructed wetlands limit the dissemination of extended-spectrum betalactamase producing Escherichia coli in the natural environment.

Anne-Laure Vivant, Catherine Boutin, Stephanie Prost-Boucle, Sandrine Papias, Alain Hartmann, Geraldine Depret, Christine Ziebal, Sophie Le Roux, Anne-Marie Pourcher

Water Res. 2016 Nov 1;104:178-188. doi: 10.1016/j.watres.2016.08.015

2015

Auteurs


Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients with Coarctation of the Aorta.

Sanchez-Castro M, Eldjouzi H, Charpentier E, Busson P-F, Hauet Q, Lindenbaum P, Delasalle-Guyomarch B, Baudry A, Pichon O, Pascal C, Lefort B, Bajolle F, Pezard P, Schott J-J, Dina C, Redon R, Gournay V, Bonnet D, Le Caignec C.

Circ Cardiovasc Genet 2015; doi:10.1161/CIRCGENETICS.115.001213.
 

Fine-scale human genetic structure in Western France. 

Karakachoff M, Duforet-Frebourg N, Simonet F, Le Scouarnec S, Pellen N, Lecointe S, Charpentier E, Gros F, Cauchi S, Froguel P, Copin N; D.E.S.I.R. Study Group, Le Tourneau T, Probst V, Le Marec H, Molinaro S, Balkau B, Redon R, Schott JJ, Blum MG, Dina C;

Eur J Hum Genet. 2015 Jun;23(6):831-6. doi: 10.1038/ejhg.2014.175. Epub 2014 Sep 3.
 

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. 

Le Scouarnec S, Karakachoff M, Gourraud JB, Lindenbaum P, Bonnaud S, Portero V, Duboscq-Bidot L, Daumy X, Simonet F, Teusan R, Baron E, Violleau J, Persyn E, Bellanger L, Barc J, Chatel S, Martins R, Mabo P, Sacher F, Haïssaguerre M, Kyndt F, Schmitt S, Bézieau S, Le Marec H, Dina C, Schott JJ, Probst V, Redon R.

Hum Mol Genet. 2015 May 15;24(10):2757-63. doi: 10.1093/hmg/ddv036. Epub 2015 Feb 3.
 

Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing.

Lecomte E, Tournaire B, Cogné B, Dupont JB, Lindenbaum P, Martin-Fontaine M, Broucque F, Robin C, Hebben M, Merten OW, Blouin V, François A, Redon R, Moullier P, Léger A.

Mol Ther Nucleic Acids. 2015 Oct 27;4:e260. doi: 10.1038/mtna.2015.32.
 

Genetic association analyses highlight biological pathways underlying mitral valve prolapse.

Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, Perrocheau M,  Fernandez-Friera L, Solis J; PROMESA investigators, Le Tourneau T, Chen MH, Probst V, Bosse, Pibarot, Zelenika, Lathrop M, Hercberg S, Roussel R, Benjamin EJ, Bonnet F, Lo SH, Dolmatova E, Simonet F, Lecointe S, Kyndt F, Redon R, Le Marec H, Froguel P, Ellinor PT, Vasan RS, Bruneval P, Markwald RR, Norris RA, Milan DJ, Slaugenhaupt SA, Levine RA, Schott JJ, Hagege AA; MVPFrance, Jeunemaitre X; Leducq Transatlantic MITRAL Network.

Nat Genet. 2015 Oct;47(10):1206-11. doi: 10.1038/ng.3383.
 

Remerciements

 

Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing.

Lecomte E, Tournaire B, Cogné B, Dupont JB, Lindenbaum P, Martin-Fontaine M, Broucque F, Robin C, Hebben M, Merten OW, Blouin V, François A, Redon R, Moullier P, Léger A.

Mol Ther Nucleic Acids. 2015 Oct; 4(10): e260. doi: 10.1038/mtna.2015.32