ROZET Jean-Michel : UMR_S1163 : Genetics in Ophtalmology

Unit : INSERM UMR_S1163 - IHU Imagine - Institut des Maladies Génétiques - Université Paris Descartes

IHU Imagine - Institut des Maladies Génétiques
Bâtiment Imagine
Laboratoire de Génétique Ophtalmologique (LGO)
24 boulevard du Montparnasse
75015 PARIS

Speciality : Department DGNRV

Director of the unit : Alain FISCHER

Principal investigator :

ROZET Jean-Michel
Email : jean-michel.rozetSPAMFILTER@inserm.fr Phone number: +33 (0)1 44 49 51 56

Composition of research team :

  • ROZET Jean-Michel (DR2-INSERM HDR)
  • KAPLAN Josseline (DRE-INSERM, HDR)
  • PERRAULT Isabelle (CR1-INSERM)

5 Recent publications of the research team :

Fares-Taie L, et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet. 2013 Feb 7;92(2):265-70.

Perrault I, et al. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet. 2012 Jul 29;44(9):975-7

Perrault I. et al. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. 2012 May 4;90(5):864-70.

Gerard X. et al. AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. Molecular Therapy Nucleic Acids. 2012 1, e29; doi:10.1038/mtna.2012.21.

Hanein S. et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.Am J Hum Genet.2009 Apr; 84(4):493-8.