BOILEAU Catherine et JONDEAU Guillaume : UMR_S1048 : Cardiovascular structural diseases

Unit : INSERM UMR_S1048 Laboraty for vascular translational science (LVTS) Université Paris Diderot

INSERM UMR_S1048
Hôpital Bichat
Bâtiment INSERM
Secteur Claude Bernard
46 rue Henri Huchard
75018 PARIS

Speciality : Department DGNRV

Director of the unit : Didier LETOURNEUR

Principal investigator :

BOILEAU Catherine et JONDEAU Guillaume
Email : catherine.boileauSPAMFILTER@inserm.fr Phone number: +33 (0)1 40 25 75 21/28

Composition of research team :

  • BOILEAU Catherine (PU-PH, HDR)
  • JONDEAU Guillaume (PU-PH, HDR)
  • VARRET Matilde (CR1-INSERM, HDR)
  • JACOB Marie-Paule (CR1-CNRS, HDR)
  • ABI-FADEL Marianne (PU, HDR)
  • VAHANIAN Alec (PU-PH, HDR)
  • MESSIKA-ZEITOUN David (PU-PH, HDR)
  • LUNG Bernard (PU-PH, HDR)
  • HIMBERT Dominique (PH)
  • HANNA Nadine (PH)

5 Recent publications of the research team :

M. Abifadel, M. Varret, J-P. Rabès, D. Allard, K. Ouguerram, (20 co-auteurs), N. Seidah, C. Boileau.Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat. Genet., 2003, 34:154-156.

T. Mizuguchi, G. Collod-Béroud (co-premier auteur), T. Akiyama, (18 co-auteurs), C. Boileau (co-dernier auteur), N. Matsumoto. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat. Genet., 2004, 36 :855-861.

Faivre L., Collod-Béroud  G., Loeys B., (25 co-auteurs), Jondeau G., Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes with FBN1 mutations : An international study. Am. J. Hum. Genet, 2007, 81(3):454-466.

Jondeau G, Detaint D, Tubach F, Arnoult F, Milleron O, Raoux F, Delorme G, Mimoun L, Krapf L, Hamroun D, Beroud C, Roy C, Vahanian A, Boileau C. Aortic event rate in the marfan population: a cohort study. Circulation. 2012 Jan 17;125(2):226-32.

Boileau C, Guo D, Hanna N, Regalado SE, Detaint D, Gong L, Varret M, Prakash S, Li AH, d’Indy H, Baverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB, NHLBI, Jondeau G, Milewicz D.

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat. Genet., 2012, Jul 8;44(8):916-21,.