Publications éq.1

Publications de l’équipe 1 (2014-)

  1. Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Müller-Nurasyid M, Empana JP, Morley MP, Perret C, Stark K, Bick AG, Prasad SK, Kriebel J, Li J, Tiret L, Strauch K, O’Regan DP, Marguiles KB, Seidman JG, Boutouyrie P, Lacolley P, Jouven X, Hengstenberg C, Komajda M, Hakonarson H, Isnard R, Arbustini E, Grallert H, Cook SA, Seidman CE, Regitz-Zagrosek V, Cappola TP, Charron P, Cambien F, Villard E. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy. PLoS One. 2017 Mar 15;12(3).
  2. Fujii Y, Itoh H, Ohno S, Murayama T, Kurebayashi N, Aoki H, Blancard M, Nakagawa Y, Yamamoto S, Matsui Y, Ichikawa M, Sonoda K, Ozawa T, Ohkubo K, Watanabe I, Guicheney P, Horie M. A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsade de pointe ventricular arrhythmia. Heart Rhythm. 2017 Jan;14(1):98-107.
  3. Fraysse B, Guicheney P, Bitoun M. Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. Biol Open. 2016 Nov 15;5(11):1691-1696.
  4. Veselka J, Anavekar NS, Charron P. Hypertrophic obstructive cardiomyopathy. Lancet. 2016 Nov 30.
  5. Kumar S, Baldinger SH, Gandjbakhch E, Maury P, Sellal JM, Androulakis AF, Waintraub X, Charron P, Rollin A, Richard P, Stevenson WG, Macintyre CJ, Ho CY, Thompson T, Vohra JK, Kalman JM, Zeppenfeld K, Sacher F, Tedrow UB, Lakdawala NK. Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. J Am Coll Cardiol. 2016 Nov 29;68(21):2299-2307.
  6. Touat-Hamici Z, Weidmann H, Blum Y, Proust C, Durand H, Iannacci F, Codoni V, Gaignard P, Thérond P, Civelek M, Karabina AS, Lusis AJ, Cambien F, Ninio E. Role of lipid phosphate phosphatase 3 (LPP3) in human aortic endothelial cell function. Cardiovasc Res. 2016 Sep 30.
  7. Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Stallmeyer B, Zumhagen S, Shimizu W, Wilde AA, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P, Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016, 24: 1160-1166.
  8. Pinto YM, Elliott PM, Arbustini E, Adler Y, Anastasakis A, Böhm M, Duboc D, Gimeno J, de Groote P, Imazio M, Heymans S, Klingel K, Komajda M, Limongelli G, Linhart A, Mogensen J, Moon J, Pieper PG, Seferovic PM, Schueler S, Zamorano JL, Caforio AL, Charron P. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2016 Jan 19.
  9. Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M. The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J. 2015.
  10. Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Stallmeyer B, Zumhagen S, Shimizu W, Wilde AA, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P. Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2015.
  11. Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. Eur J Hum Genet. 2016 Jan;24(1).
  12. Elliott P*, Charron P*, Blanes JR, Tavazzi L, Tendera M, Konté M, Laroche C, Maggioni AP; EORP Cardiomyopathy Registry Pilot Investigators. European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology. Eur Heart J. 2016 Jan 7;37(2):164-73. *equal first author
  13. Itoh H, Dochi K, Shimizu W, Denjoy I, Ohno S, Aiba T, Kimura H, Kato K, Fukuyama M, Hasagawa K, Schulze-Bahr E, Guicheney P, Horie M. A Common Mutation of Long QT Syndrome Type 1 in Japan. Circ J. 2015; 79(9): 2026-30.
  14. Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S. Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern. Muscle Nerve. 2015; 52(5): 728-35.
  15. Weidmann H, Touat-Hamici Z, Durand H, Mueller C, Chardonnet S, Pionneau C, Charlotte F, Janssen KP, Verdugo R, Cambien F, Blankenberg S, Tiret L, Zeller T, Ninio E. SASH1, a new potential link between smoking and atherosclerosis. Atherosclerosis. 2015; 242(2): 571-9.
  16. Karabina S, Ninio E. Plasma PAFAH/PLA2G7 Genetic Variability, Cardiovascular Disease, and Clinical Trials. Enzymes. 2015; 38: 145-55.
  17. Christensen AH, Kamstrup PR, Gandjbakhch E, Benn M, Jensen JS, Bundgaard H, Villard E, Tybjærg-Hansen A. Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population. Eur J Hum Genet. 2015.
  18. Behr ER, Savio-Galimberti E, Barc J, et al. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. Cardiovasc Res. 2015; 106(3): 520-9.
  19. Poitou C, Perret C, Mathieu F, Truong V, Blum Y, Durand H, Alili R, Chelghoum N, Pelloux V, Aron-Wisnewsky J, Torcivia A, Bouillot JL, Parks BW, Ninio E, Clément K, Tiret L. Bariatric Surgery Induces Disruption in Inflammatory Signaling Pathways Mediated by Immune Cells in Adipose Tissue: A RNA-Seq Study. PLoS One. 2015; 10(5): e0125718.
  20. Guardiola M, Exeter HJ, Perret C, Folkersen L, Van’t Hooft F, Eriksson P, Franco-Cereceda A, Paulsson-Berne G, Palmen J, Li K, Cooper JA, Khaw KT, Mallat Z, Ninio E, Karabina SA, Humphries SE, Boekholdt SM, Holmes MV, Talmud PJ. PLA2G10 Gene Variants, sPLA2 Activity, and Coronary Heart Disease Risk. Circ Cardiovasc Genet. 2015; 8(2): 356-62.
  21. Garnier S, Hengstenberg C, Lamblin N, Dubourg O, De Groote P, Fauchier L, Trochu JN, Arbustini E, Esslinger U, Barton PJ, Meder B, Katus H, Frese K, Komajda M, Cook SA, Isnard R, Tiret L, Villard E, Charron P. Involvement of BAG3 and HSPB7 loci in various etiologies of systolic heart failure: Results of a European collaboration assembling more than 2000 patients. Int J Cardiol. 2015; 189: 105-7.
  22. Liu A, Ming JY, Fiskesund R, Ninio E, Karabina SA, Bergmark C, Frostegård AG, Frostegård J. Induction of dendritic cell-mediated T-cell activation by modified but not native low-density lipoprotein in humans and inhibition by annexin a5: involvement of heat shock proteins. Arterioscler Thromb Vasc Biol. 2015 Jan; 35(1): 197-205.
  23. Béziau DM, Barc J, O’Hara T, Le Gloan L, Amarouch MY, Solnon A, Pavin D, Lecointe S, Bouillet P, Gourraud JB, Guicheney P, Denjoy I, Redon R, Mabo P, le Marec H, Loussouarn G, Kyndt F, Schott JJ, Probst V, Baró I. Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations. Basic Res Cardiol. 2014; 109(6): 446.
  24. Inamori K, Willer T, Hara Y, Venzke D, Anderson ME, Clarke NF, Guicheney P, Bönnemann CG, Moore SA, Campbell KP. Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues. J Biol Chem. 2014; 289(41): 28138-48.
  25. Ziyadeh-Isleem A, Clatot J, Duchatelet S, Gandjbakhch E, Denjoy I, Hidden-Lucet F, Hatem S, Deschênes I, Coulombe A, Neyroud N, Guicheney P. A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation. Heart Rhythm. 2014; 11(6): 1015-23.
  26. Meder B, Rühle F, Weis T, et al. A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy. Eur Heart J. 2014; 35(16): 1069-77.
  27. Eyries M, Montani D, Girerd B, Perret C, Leroy A, Lonjou C, Chelghoum N, Coulet F, Bonnet D, Dorfmüller P, Fadel E, Sitbon O, Simonneau G, Tregouët DA, Humbert M, Soubrier F. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat Genet. 2014; 46(1): 65-9.