TEAM LEADERS : Nabila Bouatia-Naji and Xavier Jeunemaitre
Mail : nabila.bouatia-naji@inserm.fr
PHONE :+33 1 53 98 80 23
Localisation : Lab 177, offices 159, 160 1st Floor
DOCTORAL SCHOOL : BioSPC – Development, genetics, reproduction, neurobiology and aging (DGRNV), Université Paris Cité
Adlam D, Berrandou T-E, Georges A, Nelson CP, Giannoulatou E, Henry J, Ma L, Blencowe M, Turley TN, Yang M-L, Chopade S, Finan C, Braund PS, Sadeg-Sayoud I, Iismaa SE, Kosel ML, Zhou X, Hamby SE, Cheng J, Liu L, Tarr I, Muller DWM, d’Escamard V, King A, Brunham LR, Baranowska-Clarke AA, Debette S, Amouyel P, Olin JW, Patil S, Hesselson SE, Junday K, Kanoni S, Aragam KG, Butterworth AS, CARDIoGRAMPlusCD, MEGASTROKE, International stroke genetics consortium (ISGC) intracranial aneurysm working group, Tweet MS, Gulati R, Combaret N, DISCO register, Kadian-Dodov D, Kalman JM, Fatkin D, Hingorani AD, Saw J, Webb TR, Hayes SN, Yang X, Ganesh SK, Olson TM, Kovacic JC, Graham RM, Samani NJ, Bouatia-Naji N. Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation. Nat Genet. 2023 Jun;55(6):964-972. doi: 10.1038/s41588-023-01410-1
Liu L, Jouve C, Henry J, Berrandou TE, Hulot JS, Georges A, Bouatia-Naji N. Genomic, Transcriptomic, and Proteomic Depiction of Induced Pluripotent Stem Cells-Derived Smooth Muscle Cells As Emerging Cellular Models for Arterial Diseases. Hypertension. 2023 Apr;80(4):740-753. doi: 10.1161/HYPERTENSIONAHA.122.19733
Roselli C, Yu M, Nauffal V, Georges A, Yang Q, Love K, Weng LC, Delling FN, Maurya SR, Schrölkamp M, Tfelt-Hansen J, Hagège A, Jeunemaitre X, Debette S, Amouyel P, Guan W, Muehlschlegel JD, Body SC, Shah S, Samad Z, Kyryachenko S, Haynes C, Rienstra M, Le Tourneau T, Probst V, Roussel R, Wijdh-Den Hamer IJ, Siland JE, Knowlton KU, Jacques Schott J, Levine RA, Benjamin EJ, Vasan RS, Horne BD, Muhlestein JB, Benfari G, Enriquez-Sarano M, Natale A, Mohanty S, Trivedi C, Shoemaker MB, Yoneda ZT, Wells QS, Baker MT, Farber-Eger E, Michelena HI, Lundby A, Norris RA, Slaugenhaupt SA, Dina C, Lubitz SA, Bouatia-Naji N, Ellinor PT, Milan DJ. Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
Eur Heart J. 2022 May;43(17):1668-1680. doi: 10.1093/eurheartj/ehac049. PMID: 35245370
Kouranti I, Abdel Khalek W, Mazurkiewicz S, Loisel-Ferreira I, Gautreau AM, Pintard L, Jeunemaitre X, Clauser E. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling.International Journal of Molecular Sciences. 2022 23(9):5151. doi:10.3390/ijms23095151
Legrand A, Guery C, Faugeroux J, Fontaine E, Beugnon C, et al. Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome. PLOS Genetics 2022 18(3): e1010059. doi:10.1371/journal.pgen.1010059
Georges A, Yang ML, Berrandou TE, Bakker MK, Dikilitas O, Kiando SR, Ma L, Satterfield BA, Sengupta S, Yu M, Deleuze JF, Dupré D, Hunker KL, Kyryachenko S, Liu L, Sayoud-Sadeg I, Amar L, Brummett CM, Coleman DM, d’Escamard V, de Leeuw P, Fendrikova-Mahlay N, Kadian-Dodov D, Li JZ, Lorthioir A, Pappaccogli M, Prejbisz A, Smigielski W, Stanley JC, Zawistowski M, Zhou X, Zöllner S, Amouyel P, De Buyzere ML, Debette S, Dobrowolski P, Drygas W, Gornik HL, Olin JW, Piwonski J, Rietzschel ER, Ruigrok YM, Vikkula M, Warchol Celinska E, Januszewicz A, Kullo IJ, Azizi M, Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK, Bouatia-Naji N. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nat Commun. 2021 Oct 15;12(1):6031. doi: 10.1038/s41467-021-26174-2
Hureaux M, Mazurkiewicz S, Boccio V, Vargas-Poussou R, Jeunemaitre X. The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension. Kidney International Reports. 2021;6(10):2639-2652. doi:10.1016/j.ekir.2021.07.025.
Kyryachenko S, Georges A, Yu M, Berrandou T, Guo L, Bruneval P, Rubio T, Gronwald J, Baraki H, Kutschka I, Aras K, Efimov IR, Norris RA, Voigt N, Bouatia-Naji N. Chromatin Accessibility of Human Mitral Valves and Functional Assessment of MVP Risk Loci. Circ Res. 2021 March 5. doi: 10.1161/CIRCRESAHA.120.317581
Louis-Dit-Picard H, Kouranti I, Rafael C, Loisel-Ferreira I, Chavez-Canales M, Abdel-Khalek W, Argaiz ER, Baron S, Vacle S, Migeon T, Coleman R, Do Cruzeiro M, Hureaux M, Thurairajasingam N, Decramer S, Girerd X, O’Shaugnessy K, Mulatero P, Roussey G, Tack I, Unwin R, Vargas-Poussou R, Staub O, Grimm R, Welling PA, Gamba G, Clauser E, Hadchouel J, Jeunemaitre X. Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis. The Journal of Clinical Investigation. 2020, dec;130:6379-6394. doi:10.1172/JCI94171.
Georges A, Albuisson J, Berrandou T, Dupré D, Lorthioir A, D’Escamard V, Di Narzo AF, Kadian-Dodov D, Olin JW, Warchol-Celinska E, Prejbisz A, Januszewicz A, Bruneval P, Baranowska AA, Webb TR, Hamby SE, Samani NJ, Adlam D, Fendrikova-Mahlay N, Hazen S, Wang Y, Yang ML, Hunker K, Combaret N, Motreff P, Chédid A, Fiquet B, Plouin PF, Mousseaux E, Azarine A, Amar L, Azizi M, Gornik HL, Ganesh SK, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Rare Loss-of-function Mutations of PTGIR are enriched in Fibromuscular Dysplasia. Cardiovasc Res. 2020 Jun 12;. doi: 10.1093/cvr/cvaa161
Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA. Primary cilia defects causing mitral valve prolapse. Sci Transl Med. 2019 May 22;11(493). pii: eaax0290. doi: 10.1126/scitranslmed.aax0290
Abdel Khalek W, Rafael C, Loisel-Ferreira I, Kouranti I, Clauser E, Hadchouel J, Jeunemaitre X. Severe Arterial Hypertension from Cullin 3 Mutations Is Caused by Both Renal and Vascular Effects. J Am Soc Nephrol. 2019 May;30(5):811-823. doi: 10.1681/ASN.2017121307
Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella J-M, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X. Vascular Ehlers-Danlos Syndrome. J Am Coll Cardiol.2019 Apr,73(15):1948–1957. doi:10.1016/j.jacc.2019.01.058
Adlam D, Olson TM, Combaret N, Kovacic JC, Iismaa SE, Al-Hussaini A, O’Byrne MM, Bouajila S, Georges A, Mishra K, Braund PS, d’Escamard V, Huang S, Margaritis M, Nelson CP, de Andrade M, Kadian-Dodov D, Welch CA, Mazurkiewicz S, Jeunemaitre X; DISCO Consortium, Wong CMY, Giannoulatou E, Sweeting M, Muller D, Wood A, McGrath-Cadell L, Fatkin D, Dunwoodie SL, Harvey R, Holloway C, Empana JP, Jouven X; CARDIoGRAMPlusC4D Study Group, Olin JW, Gulati R, Tweet MS, Hayes SN, Samani NJ, Graham RM, Motreff P, Bouatia-Naji N. Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection. J Am Coll Cardiol. 2019 Jan 8;73(1):58-66. doi: 10.1016/j.jacc.2018.09.085
