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Médecine translationnelle et neurogénétique

  • Identification of genes required for eye development by high-throughput screening of mouse knockouts.

    Moore BA(1), Leonard BC(#)(2), Sebbag L(#)(1), Edwards SG(1), Cooper A(1), Imai DM(3), Straiton E(4), Santos L(4), Reilly C(3), Griffey SM(3), Bower L(5), Clary D(5), Mason J(6), Roux MJ(7)(8)(9)(10)(11), Meziane H(7)(8)(9)(10)(11), Herault Y(7)(8)(9)(10)(11); International Mouse Phenotyping Consortium, McKerlie C(12)(13), Flenniken AM(12)(14), Nutter LMJ(12)(13), Berberovic Z(12)(14), Owen C(12)(14), Newbigging S(12)(14), Adissu H(12)(14), Eskandarian M(12)(14), Hsu CW(15), Kalaga S(15), Udensi U(15), Asomugha C(15), Bohat R(16), Gallegos JJ(16), Seavitt JR(16), Heaney JD(16), Beaudet AL(16), Dickinson ME(15)(16), Justice MJ(12)(13)(16), Philip V(17), Kumar V(17), Svenson KL(17), Braun RE(17), Wells S(4), Cater H(4), Stewart M(4), Clementson-Mobbs S(4), Joynson R(4), Gao X(18), Suzuki T(19), Wakana S(19), Smedley D(20), Seong JK(21), Tocchini-Valentini G(22), Moore M(23), Fletcher C(24), Karp N(25), Ramirez-Solis R(25), White JK(17)(25), de Angelis MH(26), Wurst W(26), Thomasy SM(2)(27), Flicek P(6), Parkinson H(6), Brown SDM(4), Meehan TF(6), Nishina PM(17), Murray SA(17), Krebs MP(17), Mallon AM(4), Lloyd KCK(5), Murphy CJ(2)(27), Moshiri A(27).

    Commun Biol 21 décembre 2018

  • Identification of genetic elements in metabolism by high-throughput mouse phenotyping.

    Rozman J(1)(2), Rathkolb B(1)(2)(3), Oestereicher MA(1), Schutt C(1), Ravindranath AC(2)(4), Leuchtenberger S(1), Sharma S(2)(5), Kistler M(1), Willershauser M(6)(7)(8), Brommage R(1), Meehan TF(9), Mason J(9), Haselimashhadi H(9); IMPC Consortium, Hough T(10), Mallon AM(10), Wells S(10), Santos L(10), Lelliott CJ(11), White JK(11)(12), Sorg T(13)(14)(15)(16)(17), Champy MF(13)(14)(15)(16)(17), Bower LR(18), Reynolds CL(19), Flenniken AM(20)(21)(22), Murray SA(12), Nutter LMJ(20)(21), Svenson KL(12), West D(23), Tocchini-Valentini GP(24), Beaudet AL(20)(21), Bosch F(25), Braun RB(12), Dobbie MS(26), Gao X(27), Herault Y(13)(14)(15)(16)(17), Moshiri A(28), Moore BA(29), Kent Lloyd KC(18), McKerlie C(20)(21), Masuya H(30), Tanaka N(30), Flicek P(9), Parkinson HE(9), Sedlacek R(31), Seong JK(32), Wang CL(33), Moore M(34), Brown SD(10), Tschop MH(2)(35)(36), Wurst W(37)(38)(39)(40), Klingenspor M(6)(7)(8), Wolf E(2)(3), Beckers J(1)(2)(41), Machicao F(42), Peter A(2)(42)(43), Staiger H(2)(43)(44), Haring HU(2)(42)(43), Grallert H(2)(5)(45), Campillos M(2)(4), Maier H(1), Fuchs H(1), Gailus-Durner V(1), Werner T(46), Hrabe de Angelis M(47)(48)(49).

    Nat Commun 18 janvier 2018

  • Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.

    Iacono G(1), Dubos A(2)(3)(4)(5), Meziane H(2), Benevento M(6)(7)(8), Habibi E(1), Mandoli A(1), Riet F(2), Selloum M(2), Feil R(9)(10), Zhou H(1)(7), Kleefstra T(7)(8), Kasri NN(6)(7)(8), van Bokhoven H(6)(7)(8), Herault Y(2)(3)(4)(5), Stunnenberg HG(1).

    Nucleic Acids Res 1 juin 2018

  • Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.

    Arbogast T(1), Razaz P(2), Ellegood J(3), McKinstry S(1), Erdin S(2), Currall B(2), Aneichyk T(2), Lerch JP(3), Qiu LR(3), Rodriguiz RM(4), Mark Henkelman R(3), Talkowski ME(2), Wetsel WC(4)(5), Golzio C(6), Katsanis N(1).

    Hum Mol Genet 26 décembre 2018

  • KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

    Gueneau L(1), Fish RJ(2), Shamseldin HE(3), Voisin N(1), Tran Mau-Them F(4), Preiksaitiene E(5), Monroe GR(6), Lai A(7), Putoux A(8), Allias F(9), Ambusaidi Q(10), Ambrozaityte L(5), Cimbalistiene L(5), Delafontaine J(11), Guex N(11), Hashem M(3), Kurdi W(10), Jamuar SS(12), Ying LJ(13), Bonnard C(14), Pippucci T(15), Pradervand S(16), Roechert B(11), van Hasselt PM(6), Wiederkehr M(1), Wright CF(17); DDD Study, Xenarios I(16), van Haaften G(6), Shaw-Smith C(18), Schindewolf EM(19), Neerman-Arbez M(2), Sanlaville D(8), Lesca G(8), Guibaud L(20), Reversade B(21), Chelly J(4), Kucinskas V(5), Alkuraya FS(22), Reymond A(23).

    Am J Hum Genet 4 janvier 2018

  • Knockdown of hypocretin attenuates extended access of cocaine self-administration in rats.

    Schmeichel BE(1)(2), Matzeu A(3), Koebel P(4), Vendruscolo LF(5), Sidhu H(3), Shahryari R(3), Kieffer BL(4)(6), Koob GF(5), Martin-Fardon R(3), Contet C(3).

    Neuropsychopharmacology Nov 2018 2018

  • Lack of anticipatory behavior in Gpr88 knockout mice revealed by automatized home cage phenotyping.

    Maroteaux G(1), Arefin TM(2)(3), Harsan LA(3)(4)(5), Darcq E(1), Ben Hamida S(1)(2), Kieffer BL(1)(2).

    Genes Brain Behav 25 mars 2018

  • Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors.

    Carrillo-Rosas S(1)(2)(3)(4), Weber C(1)(2)(3)(4), Fievet L(1)(2)(3)(4), Messaddeq N(1)(2)(3)(4), Karam A(1)(2)(3)(4), Trottier Y(1)(2)(3)(4).

    Hum Mol Genet 16 novembre 2018

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