Publications

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

Published the 31/07/2012 - J Allergy Clin Immunol - pmid : 22841008 IMGT® - the international ImMunoGeneTics information system®

Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Mégarbané A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ

Animal models in therapeutic drug discovery for oculopharyngeal muscular dystrophy

Published the 28/07/2012 - Drug Discovery Today: Technologies - pmid : 24050237 mRNA Regulation and Development

Chartier A, Simonelig M.

PABPN1 shuts down alternative poly(A) sites

Published the 29/05/2012 - Cell Res. - pmid : 22641371 mRNA Regulation and Development

+ Homing, immune activation and infection

Simonelig, M

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.

Published the 25/05/2012 - J Allergy Clin Immunol - pmid : 22621957 IMGT® - the international ImMunoGeneTics information system®

Cliffe ST, Bloch DB, Suryani S, Kamsteeg EJ, Avery DT, Palendira U, Church JA, Wainstein BK, Trizzino A, Lefranc G, Akatcherian C, Megarbané A, Gilissen C, Moshous D, Reichenbach J, Misbah S, Salzer U, Abinun M, Ong PY, Stepensky P, Ruga E, Ziegler JB, Wong M, Tangye SG, Lindeman R, Buckley MF, Roscioli T

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.

Published the 15/05/2012 - Nat Immunol - pmid : 22581261 IMGT® - the international ImMunoGeneTics information system®

Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, Rauter I, Benson H, Schneider L, Baxi S, Recher M, Notarangelo LD, Wakim R, Dbaibo G, Dasouki M, Al-Herz W, Barlan I, Baris S, Kutukculer N, Ochs HD, Plebani A, Kanariou M, Lefranc G, Reisli I, Fitzgerald KA, Golenbock D, Manis J, Keles S, Ceja R, Chatila TA, Geha RS

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.

Published the 02/03/2012 - Eur J Hum Genet - pmid : 22378288 IMGT® - the international ImMunoGeneTics information system®

Lana E, Mégarbané A, Tourrière H, Sarda P, Lefranc G, Claustres M, De Sario A

Maternal-to-zygotic transition: soma versus germline.

Published the 22/02/2012 - Genome Biol. - pmid : 22356804 mRNA Regulation and Development

Simonelig, M.

The nucleoporin 153, a novel factor in double-strand break repair and DNA damage response

Published the 16/01/2012 - Oncogene Nuclear architecture in physiology and pathology

C Lemaître, B Fischer, A Kalousi, A-S Hoffbeck, J Guirouilh-Barbat, O D Shahar, D Genet, M Goldberg, P Betrand, B Lopez, L Brino & E Soutoglou

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Published the 03/01/2012 - Clin Genet - pmid : 21906047 IMGT® - the international ImMunoGeneTics information system®

Chouery E, Abou-Ghoch J, Corbani S, El Ali N, Korban R, Salem N, Castro C, Klayme S, Azoury-Abou Rjeily M, Khoury-Matar R, Debo G, Germanos-Haddad M, Delague V, Lefranc G, Mégarbané A

Mass Spectrometry Detection of G3m and IGHG3 Alleles and Follow-Up of Differential Mother and Neonate IgG3.

Published the 01/01/2012 - PLoS One - pmid : 23049948 IMGT® - the international ImMunoGeneTics information system®

Dechavanne C, Guillonneau F, Chiappetta G, Sago L, Lévy P, Salnot V, Guitard E, Ehrenmann F, Broussard C, Chafey P, Le Port A, Vinh J, Mayeux P, Dugoujon JM, Lefranc MP, Migot-Nabias F.

Interallelic and intergenic incompatibilities of the prdm9 (hst1) gene in mouse hybrid sterility

Published the 01/01/2012 - PLoS Genet. Meiosis and recombination

Flachs P, Mihola O, Simeček P, Gregorová S, Schimenti JC, Matsui Y, Baudat F, de Massy B, Piálek J, Forejt J, Trachtulec Z.

SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4+ T-cells

Published the 01/01/2012 - Retrovirology - pmid : 23092122 Laboratory of Molecular Virology

Descours B, Cribier A, Chable-Bessia C, Ayinde D, Rice G, Crow Y, Yatim A, Schawartz O, Laguette N, Benkirane M.

Diversity, Molecular Characterization and Expression of T Cell Receptor γ in a Teleost Fish, the Sea Bass (Dicentrarchus labrax, L)

Published the 01/01/2012 - PLoS One - pmid : 23133531 IMGT® - the international ImMunoGeneTics information system®

Buonocore F, Castro R, Randelli E, Lefranc MP, Six A, Kuhl H, Reinhardt R, Facchiano A, Boudinot P, Scapigliati G.

Molecular biology. EZH2 goes solo

Published the 01/01/2012 - SCIENCE Chromatin and cell biology

Cavalli, G.

DNA replication stress response involving PLK1, CDC6, POLQ, RAD51 and CLASPIN upregulation prognoses the outcome of early/mid-stage non-small cell lung cancer patients

Published the 01/01/2012 - Oncogenesis - pmid : 23552402 Maintenance of genome integrity during DNA replication

Allera-Moreau C, Rouquette I, Lepage B, Oumouhou N, Walschaerts M, Leconte E, Schilling V, Gordien K, Brouchet L, Delisle MB, Mazieres J, Hoffmann JS, Pasero P, Cazaux C.

Nuclear retention prevents premature cytoplasmic appearance of mRNA.

Published the 01/01/2012 - Mol Cell Cell Biology of RNA

Kallehauge,T., Robert, M-C., Bertrand*, E., Jensen*, T. H. *: co-corresponding authors.

CRM1 plays a nuclear role in transporting snoRNPs to nucleoli in higher eukaryotes.

Published the 01/01/2012 - Nucleus. Cell Biology of RNA

Verheggen C, Bertrand E.

Microprocessor dynamics and interactions at endogenous imprinted C19MC microRNA genes.

Published the 01/01/2012 - J Cell Sci. Cell Biology of RNA

Bellemer C, Bortolin-Cavaillé ML, Schmidt U, Jensen SM, Kjems J, Bertrand E, Cavaillé J.

Perispeckles are major assembly sites for the exon junction core complex.

Published the 01/01/2012 - Mol Biol Cell. Cell Biology of RNA

Daguenet E, Baguet A, Degot S, Schmidt U, Alpy F, Wendling C, Spiegelhalter C, Kessler P, Rio MC, Le Hir H, Bertrand E, Tomasetto C.

HSP90 and the R2TP co-chaperone complex: building multi-protein machineries essential for cell growth and gene expression.

Published the 01/01/2012 - RNA Biol Cell Biology of RNA

Boulon, S., Bertrand, E.*, and B. Pradet-Balade*. *: co-corresponding authors

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