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]

Dufouil C, Dubois B, Vellas B, Pasquier F, Blanc F, Hugon J, Hanon O, Dartigues JF, Harston S, Gabelle A, Ceccaldi M, Beauchet O, Krolak-Salmon P, David R, Rouaud O, Godefroy O, Belin C, Rouch I, Auguste N, Wallon D, Benetos A,  Pariente J, Paccalin M, Moreaud O, Hommet C, Sellal F, Boutoleau-Bretonniére C, Jalenques I, Gentric A, Vandel P, Azouani C, Fillon L, Fischer C, Savarieau H, Operto G, Bertin H, Chupin M, Bouteloup V, Habert MO, Mangin JF, Chêne G; MEMENTO cohort Study Group. Cognitive and imaging markers in non-demented subjects attending a memory clinic: study design and baseline findings of the MEMENTO cohort. Alzheimers Res Ther. 2017 Aug 29;9(1):67. doi: 10.1186/s13195-017-0288-0. PubMed PMID: 28851447; PubMed Central PMCID: PMC5576287.

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]

Bureau ML, Liuu E, Christiaens L, Pilotto A, Mergy J, Bellarbre F, Ingrand P, Paccalin M; MPI_AGE Project Investigators. Using a multidimensional prognostic index (MPI) based on comprehensive geriatric assessment (CGA) to predict mortality in elderly undergoing transcatheter aortic valve implantation. Int J Cardiol. 2017 Jun 1;236:381-386. doi: 10.1016/j.ijcard.2017.02.048. Epub 2017 Feb 16. PubMed PMID: 28238508.

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]

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]

Evanno E, Godet J, Piccirilli N, Guilhot J, Milin S, Gombert JM, Fouchaq B, Roche J. Tri-methylation of H3K79 is decreased in TGF-β1-inducedepithelial-to-mesenchymal transition in lung cancer. Clin Epigenetics. 2017 Aug 8;9:80. doi: 10.1186/s13148-017-0380-0. eCollection 2017. PubMed PMID: 28804523; PubMed Central PMCID: PMC5549304.

Farhat R, El-Seedy A, Norez C, Talbot H, Pasquet MC, Adolphe C, Kitzis A, Ladevèze V. Complexity of phenotypes induced by p.Asn1303Lys-CFTR correlates with difficulty to rescue and activate this protein. Cell Mol Biol. 2017 Nov 30;63(11):106-110. doi: 10.14715/cmb/2017.63.11.18. PMID: 29208182 [IF: 0.920]

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: 1.100]

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]

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B. Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14. PubMed PMID: 28612834; PubMed Central PMCID: PMC5567159.

Masliantsev K, Pinel B, Balbous A, Guichet PO, Tachon G, Milin S, Godet J, Duchesne M, Berger A, Petropoulos C, Wager M, Karayan-Tapon L. Impact of STAT3 phosphorylation in glioblastoma stem cells radiosensitization and patient outcome. Oncotarget. 2017 Dec 16;9(3):3968-3979. doi: 10.18632/oncotarget.23374. eCollection 2018 Jan 9. PubMed PMID: 29423098; PubMed Central PMCID: PMC5790515.

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]

Mazerolle M, Régner I, Barber SJ, Paccalin M, Miazola AC, Huguet P, Rigalleau F. Negative Aging Stereotypes Impair Performance on Brief Cognitive Tests Used to Screen for Predementia. J Gerontol B Psychol Sci Soc Sci. 2017 Oct 1;72(6):932-936. doi: 10.1093/geronb/gbw083. PubMed PMID: 27466251; PubMed Central PMCID: PMC5926988.

Pinel B, Duchesne M, Godet J, Milin S, Berger A, Wager M, Karayan-Tapon L. Mesenchymal subtype of glioblastomas with high DNA-PKcs expression is associated  with better response to radiotherapy and temozolomide. J Neurooncol. 2017 Apr;132(2):287-294. doi: 10.1007/s11060-016-2367-7. Epub 2017 Jan 10. PubMed PMID: 28070830.

Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gérard B, Mandel JL, Faivre L, Piton A. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. Eur J Hum Genet. 2017 Apr;25(4):423-431. doi: 10.1038/ejhg.2016.204. Epub 2017 Feb 8. PubMed PMID:28176767; PubMed Central PMCID: PMC5386424.

Renault AL, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d’Enghien CD, Laugé A, Dondon MG, Labbé M, Lesca G, Leroux D, Gladieff L, Adenis C, Faivre L, Gilbert-Dussardier B, Lortholary A, Fricker JP, Dahan K, Bay JO, Longy M, Buecher B, Janin N, Zattara H, Berthet P, Combès A, Coupier I; CoF-AT study collaborators, Hall J, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families Carcinogenesis. 2017 Oct 1;38(10):994-1003. doi: 10.1093/carcin/bgx074  [IF: 5.105]

Roubaud-Baudron C, Forestier E, Fraisse T, Gaillat J, de Wazières B, Pagani L, Ingrand I, Bernard L, Gavazzi G, Paccalin M. Tolerance of subcutaneously administered antibiotics: a French national prospective study. Age Ageing. 2017 Jan 8;46(1):151-155. doi: 10.1093/ageing/afw143. PubMed PMID: 28181635.

Terrier LM, Bauchet L, Rigau V, Amelot A, Zouaoui S, Filipiak I, Caille A, Almairac F, Aubriot-Lorton MH, Bergemer-Fouquet AM, Bord E, Cornu P, Czorny A, Dam Hieu P, Debono B, Delisle MB, Emery E, Farah W, Gauchotte G, Godfraind C, Guyotat J, Irthum B, Janot K, Le Reste PJ, Liguoro D, Loiseau H, Lot G, Lubrano V, Mandonnet E, Menei P, Metellus P, Milin S, Muckenstrum B, Roche PH, Rousseau A, Uro-Coste E, Vital A, Voirin J, Wager M, Zanello M, François P, Velut S, Varlet P, Figarella-Branger D, Pallud J, Zemmoura I; Club de Neuro-Oncologie of the Société Française de Neurochirurgie. Natural course and prognosis of anaplastic gangliogliomas: a multicenter retrospective study of 43 cases from the French Brain Tumor Database. Neuro Oncol. 2017 May 1;19(5):678-688. doi: 10.1093/neuonc/now186. PubMed PMID: 28453747; PubMed Central PMCID: PMC5464461.

Vuillaume ML, Jeanne M, Blesson S,, Denommé-Pichon AS, Alirol S, Brulard C , Bonneau D, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bézieau S, Laumonnier F, Toutain A.  A novel GABBR2 mutation identified by whole exome sequencing highlights the involvement of GABAB receptors in severe intellectual disability Ann Neurol. 2018 Jan 25. doi: 10.1002/ana.25155    [IF: 9.890]