2017 (par ordre alphabétique)

Publications en rapport avec les thèmes de recherche de l’EA3808 (maladie d’Alzheimer & maladies génétiques rares)

Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S,   Machado J, Caluseriu O, Dupuis L,  Grafodatskaya D,   Reardon W,  Gilbert-Dussardier B, Verloes A, Bilan F,  Milunsky J, Basran R,  PapsinB,  Stockley TL,   Scherer S,  Choufani S,  Brudno M, WeksberR.  CHARGE and Kabuki syndromes: Unique DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions. ,  Am J Hum Genet 2017; 100:773-788 [IF : 9,025]

Küry S, Besnard T, EbsteinF, Khan T, GambinT, Douglas J, Bacino CA, Sanders S, StringerK, LatypovaX, Pacault M, SacharowS, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho M, Roeder E, Denommé AS, Monaghan K, Yuan B, XiaF, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S,  Toutain T, Shaw CA, Patel A,  Smith JL, Bi W,  Schmitt S, DebW, Nizon M, Mercier S, Vincent M, Malan V, Luzzi CD, Gomez Gutierrez A, Cogné B, Lupski JR, Stessman H, Eichler E, Retterer K, Yang Y, Redon R, Katsani N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B..De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder. Am J Hum Genet. 2017; 100:352-363. doi: 10.1016/j.ajhg.2017.01.003. [IF : 9,025]

Küry S, van Woerden GM,  Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA,  Sanders S, Stessman HAF, Pujol A, Distel B, Robak L, Bernstein JA, Denommé-Pichon AS,  Lesca G, Sellars EA, Berg J,  Carré W, Busk OL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla OL, Sarkar A, Tveten K, de-Regnauld-de-Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam CT, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AL, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLL, Juusola J,  Foss K, Enns GM, Lindenbaum P,  Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F,  Schmitt S, Deb W,  Bonneau D,  Nizon M,  Quinquis D, Chelly J, Reijnders M, Rudolf G, Sanlaville D,  Parent P,  Gilbert-Dussardier B,  Toutain A, Sutton VR,  Howell J, Peart-Vissers LELM,  Boisseau P, Vincent M, Grabrucker A,  Dubourg C, Santen J, Shendure J, Wigler M,  Isidor B, Pasquier L,  Redon R,  Yang Y,  State M, Kleefstra T,  Cogné B, Deciphering Developmental Disorders study, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB,  Bézieau S,  Odent S,  Elgersma Y, Mercier S.  De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability. 2017. Am J Human Genet. 101 ; 5 : p768–788 ; http://dx.doi.org/10.1016/j.ajhg.2017.10.003 [IF : 9,025]

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Beneteau C, Bilan F, Boute O, Busa T, Cormier V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jonch A, Martin D, Mercier S, Moutton S, Rooryck Thambo C, Schaefer E, Vincent M, Sanlaville D,  Le Caignec C, Jacquemont S, David A et Isidor B. Sex Chromosome Aneuploidies and Copy Number variants: a further explanation for neurodevelopmental prognosis variability? Eur J Human Genet 2017. 00, 1-5. doi:10.1038/ejhg.2017.93. [IF : 4,287]

Legendre M, Rodriguez – Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. Eur J Human Genet 2017, sous presse [IF : 4,287]

Vérité J, Janet T, Julian A, Chassaing D, Page G§, Paccalin M§ (§ co-last authors). Peripheral blood mononuclear cells of Alzheimer’s disease patients control CCL4 and CXCL10 levels in a human blood brain barrier model. Current Alzheimer Research, 2017, 14(11): 1215-1228. doi: 10.2174/1567205014666170417110337. [IF : 3,145]

Autres publications

Bruel AL,  Franco B,  Duffourd Y,  Thevenon J,   Jego L,  Lopez  E, Deleuze JF,  Doummar D, Giles RH, Johnson CA, . Huynen MA, Chevrier V,  Burglen L,  Desguerres I, Pierquin G,  Doray B,  Gilbert-Dussardier B, Reversade B,  Steichen-Berger E,  Baumann C,   Panigrah I,  Fargeot-Espaliat A,  Dieux A, David A,  Goldenberg A,  Bongers E,  Gaillard D, Argente J, Aral B, Gigot N,  St-Onge J, Birnbaum D,  Phadke S,  Cormier-Daire V,  Eguether T,  Pazour GJ, Herranz-Pérez V, Lee JS,  Pasquier L,  Loget P,  Saunier S,  Mégarbané A, Rosnet O, . Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB,  Faivre L,  Thauvin-Robinet C.  Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes 2017. J Med Genet Mar 13. pii: jmedgenet-2016-104436. doi: 10.1136/jmedgenet-2016-104436 [IF : 6,335]

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Hum Mutat. 2017 Jun 12. doi: 10.1002/humu.23276.  [IF : 4,601]

Canivet A, Albinet CT, Rodriguez-Ballesteros M, Chicherio C, Fagot D, André N, Audiffren M. Interaction between BDNF Polymorphism and Physical Activity on Inhibitory Performance in the Elderly without Cognitive Impairment. Front. Hum. Neurosci., 07 November 2017. https://doi.org/10.3389/fnhum.2017.00541 [IF : 3,209]

Farhat R, El-Seedy A, Sari AIP, Norez C, Pasquet MC, Becq F, Kitzis A, Ladevèze V. In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity. C R Biol. 2017 Aug 4. pii: S1631-0691(17)30100-2. doi: 10.1016/j.crvi.2017.06.00 [IF : 1,1]

Foucault-Fruchard L, Doméné A, Page G, Windsor M, Emond P, Rodrigues N, Dollé F, Damont A, Buron F, Routier S, Chalon S, Antier D. Neuroprotective effect of the alpha 7 nicotinic receptor agonist PHA 543613 in an in vivo excitotoxic adult rat model. Neuroscience. 2017 May 18. pii: S0306-4522(17)30344-5. doi: 10.1016/j.neuroscience.2017.05.019 [IF : 3,231]

Mathis S, Couratier P, Julian A, Corcia P, Le Masson G. Current view and perspectives in amyotrophic lateral sclerosis. Neural Regen Res. 2017 Feb;12(2):181-184. doi: 10.4103/1673-5374.200794. Review. [IF : 1,769]

 

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