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Periosteum contains skeletal stem cells with high bone regenerative potential controlled by Periostin.

Conway SJ and Colnot C Duchamp de Lageneste O, Julien A, Abou-Khalil R, Frangi G, Carvalho C, Cagnard N, Cordier C

Nature Communications, 2018 9(1):773.


Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

Parlato, M., Charbit-Henrion, F., Pan, J., Romano, C., Duclaux-Loras, R., Le Du, M. H., Warner, N., Francalanci, P., Bruneau, J., Bras, M., Zarhrate, M., Begue, B., Guegan, N., Rakotobe, S., Kapel, N., De Angelis, P., Griffiths, A. M., Fiedler, K., Crowley, E., Ruemmele, F., Muise, A. M. and Cerf-Bensussan, N.

EMBO Mol Med. 2018 0(4). pii: emmm.201708483. doi: 10.15252/emmm.201708483.


Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study.

Charbit-Henrion, F., Parlato, M., Hanein, S., Duclaux-Loras, R., Nowak, J., Begue, B., Rakotobe, S., Bruneau, J., Fourrage, C., Alibeu, O., Rieux-Laucat, F., Levy, E., Stolzenberg, M. C., Mazerolles, F., Latour, S., Lenoir, C., Fischer, A., Picard, C., Aloi, M., Amil Dias, J., Ben Hariz, M., Bourrier, A., Breuer, C., Breton, A., Bronski, J., Buderus, S., Cananzi, M., Coopman, S., Cremilleux, C., Dabadie, A., Dumant-Forest, C., Egritas Gurkan, O., Fabre, A., Fischer, A., German Diaz, M., Gonzalez-Lama, Y., Goulet, O., Guariso, G., Gurcan, N., Homan, M., Hugot, J. P., Jeziorski, E., Karanika, E., Lachaux, A., Lewindon, P., Lima, R., Magro, F., Major, J., Malamut, G., Mas, E., Mattyus, I., Mearin, L. M., Melek, J., Navas-Lopez, V. M., Paerregaard, A., Pelatan, C., Pigneur, B., Pinto Pais, I., Rebeuh, J., Romano, C., Siala, N., Strisciuglio, C., Tempia-Caliera, M., Tounian, P., Turner, D., Urbonas, V., Willot, S., Ruemmele, F. M. and Cerf-Bensussan, N.

J Crohns Colitis. 2018 pii: 4999332. doi: 10.1093/ecco-jcc/jjy068


A homozygous mutation in KAT2B extends the spectrum of ADD3-dependent intellectual disability syndrome

Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, Boyer O, Gribouval O, Gubler MC, Mollet G, Rio M, Charbit M, Bole-Feysot C, Nitschke P, Huber TB, Wheeler PG, Haynes D, Juusola J, Billette de Villemeur T, Nava C, Afenjar A, Keren B, Bodmer R, Antignac C, Simons M.

PLoS Genet. 2018 16;14(5):e1007386.


Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair.

Izmiryan A, Ganier C, Bovolenta M, Schmitt A, Mavilio F, Hovnanian A.

Mol Ther Nucleic Acids. 2018 12:554-567.


Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects Recessive Dystrophic Epidermolysis Bullosa in a Xenograft Model.

Ganier C, Titeux M, Gaucher S, Peltzer J, Le Lorc'h M, Lataillade JJ, Ishida-Yamamoto A, Hovnanian A.

J Invest Dermatol. 2018 pii: S0022-202X(18)31965-1


Inborn errors of RNA lariat metabolism in humans with brainstem viral infection.

Zhang, S.Y. et al.

Cell 2018 172, 952-965


Scoring of pathogenic non-coding variants in Mendelian diseases through supervised learning on ancient, recent and ongoing purifying selection signals in human

RAUSELL A. CARON B, LUO Y

BioRxiv, 2018, 2018 https://doi.org/10.1101/363903


Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem/Progenitor Cells for Therapeutic Genomic Rearrangements.

Lattanzi A, Meneghini V., Pavani G., Amor F., Ramadier S., Antoniani C., Felix T., Masson C., Lee C., Porteus M., Bao G., Amendola M., Mavilio F., Miccio A.

Mol Ther. 2018 pii: S1525-0016(18)30497-0. doi: 10.1016/j.ymthe.2018.10.008.


An optimized lentiviral vector corrects efficiently the human sickle cell disease phenotype.

Weber L., Poletti V., Magrin E., Antoniani C., Martin S., Bayard C., Sadek H., Felix T., Meneghini V., Antoniou M.N., El-Nemer W., Mavilio F., Cavazzana M., Andre-Schmutz I. and Miccio A.

Mol Ther Methods Clin Dev. 2018 10:268-280. doi: 10.1016/j.omtm.2018.07.012. eCollection 2018 Sep 21.


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