LES PUBLICATIONS SCIENTIFIQUES

2009

Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, et al. Disruption of very distant highly conserved non-coding elements on either side of the SOX9 gene is associated with Pierre Robin sequence. Nat Genet (2009), 41,359-64.

Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, et al. Disruption of very distant highly conserved non-coding elements on either side of the SOX9 gene is associated with Pierre Robin sequence. Nat Genet (2009), 41,359-64.

Bonnefont JP, Bastin J, Behin A, Djouadi F. Bezafibrate for an inborn mitochondrial beta-oxidation defect. N Engl J Med. 2009 360:838-40

Cagnard N, Lucchesi C, Chiocchia, GGExMap: An Intuitive Visual Tool to Detect and Analyze Genomic Distribution in Microarray-generated Lists of Differentially Expressed Genes, J Proteomics Bioinform 2009; 2: 051- 059

Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009, 84:706-711

Delous M, Hellman NE, Gaudé HM, Silbermann F, Le Bivic A, Salomon R, Antignac C, Saunier S. Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6. Hum Mol Genet, 2009 Sep 14. [Epub ahead of print]

Ditadi A, De Coppi P, Picone O, Gautreau L, Smati R, Six E, Bonhomme D, Ezine S, Frydman R, Cavazzana-Calvo M, André-Schmutz I. Human and murine amniotic fluid c-Kit+Lin- cells display hematopoietic activity. Blood 2009 ; 113:3953-60.

Dong Z, Cruz-Munoz ME, Zhong MC, Chen R, Latour S and Veillette A. (2009). Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells. Nat.Immunol. 10(9):973-80

Gaboriau-Routhiau, V., S. Rakotobe, E. Lecuyer, I. Mulder, A. Lan, C. Bridonneau, V. Rochet, A. Pisi, M. De Paepe, G. Brandi, G. Eberl, J. Snel, D. Kelly, and N. Cerf-Bensussan. 2009. The key role of segmented filamentous bacteria in the coordinated maturation of gut helper T cell responses. Immunity 31:677-689.

Goldberg S, Harvey SJ, Cunningham J, Tryggvason K, Miner JH. Glomerular filtration is normal in the absence of both agrin and perlecan-heparan sulfate from the glomerular basement membrane. Nephrol Dial Transplant, 2009, 24:2044-51

Gross O, Borza DB, Anders HJ, Licht C, Weber M, Segerer S, Torra R, Gubler MC, Heidet L, Harvey S, Cosgrove D, Lees G, Kashtan C, Gregory M, Savige J, Ding J, Thorner P, Abrahamson DR, Antignac C, Tryggvason K, Hudson B, Miner JH. Stem cell therapy for Alport syndrome: the hope beyond the hype. Nephrol Dial Transplant, 2009, 24:731-34

Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM.TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet (2009) 84(4):493-8.

Magerus-Chatinet A, et al FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. Blood. 2009 113(13):3027-30.

Malivert, L., Callebaut, I., Rivera-Munoz, P., Fischer, A., Mornon, J. P., Revy, P. & De Villartay, J. P. The C-Terminal domainof Cernunnos/XLF is dispensable for DNA repair in vivo. Mol Cell Biol (2009) 29, 1116-1122

Mateo V, Ménager M, de Saint-Basile G, Stolzenberg MC, Roquelaure B, André N, Florkin B, le Deist F, Picard C, Fischer A, Rieux-Laucat F. Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes.Blood. 2007 15;110(13):4285-92.

Mollet G, Ratelade J, Boyer O, Muda AO, Morisset L, Lavin TA, Kitzis D, Dallman MJ, Bugeon L, Hubner N, Gubler MC, Antignac C, Esquivel EL. Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome. J Am Soc Nephrol, 2009, 20 : 2181-9.

Pannier S, Couloigner V, Messaddeq N, Elmaleh-Bergès M, Munnich A, Romand R, Legeai-Mallet L. Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. Biochim Biophys Acta. 2009,1792: 140-147.

Rivera-Munoz, P., Soulas-Sprauel, P., Le Guyader, G., Abramowski, V., Bruneau, S., Fischer, A., Paques, F., and de Villartay, J.P. Reduced immunoglobulin class switch recombination in the absence of Artemis. Blood (2009) 114:3601-3609.

Saal S, Harvey SJ. MicroRNAs and the kidney: coming of age. Curr Opin Nephrol Hypertens, 2009, 18:317-23

Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet. 2009 85:401-7

2008

Benjelloun F, Garrigue A, Demerens-de Chappedelaine C, Soulas-Sprauel P, Malassis-Séris M, Stockholm D, Hauer J, Blondeau J, Rivière J, Lim A, Le Lorc'h M, Romana S, Brousse N, Pâques F, Galy A, Charneau P, Fischer A, de Villartay JP, Cavazzana-Calvo M., Stable and Functional Lymphoid Reconstitution in Artemis-deficient Mice Following Lentiviral Artemis Gene Transfer Into Hematopoietic Stem Cells, Mol Ther., 2008,16(8):1490-9.

Brezillon NM, DaSilva L, L'Hôte D, Bernex F, Piquet J, Binart N, Morosan S, Kremsdorf D., Rescue of Fertility in Homozygous Mice for the Urokinase Plasminogen Activator Transgene by the Transplantation of Mouse Hepatocytes. Cell Transplant. 2008,17(7):803-12

Danos, O. AAV vectors for RNA-based modulation of gene expression. Gene Ther. (2008);15:864-9.

Fabre S, Carrette F, Chen J, Lang V, Semichon M, Denoyelle C, Lazar V, Cagnard N, Dubart-Kupperschmitt A, Mangeney M, Fruman DA, Bismuth, G.FOXO1 regulates L-Selectin and a network of human T cell homing molecules downstream of phosphatidylinositol 3-kinase. J Immunol. 2008 Sep 1;181(5):2980-9

Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C,Vignon-Savoye C, Bader-Meunier B, Blanche S, De Vernejoul MC, Legeai-Mallet L, Fischer A, Le Merrer, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet. 2008, 40: 284-286

Harvey SJ, Jarad G, Cunningham J, Goldberg S, Schermer B, Harfe BD, McManus MT, Benzing T, Miner JH. Podocyte-specific deletion of dicer alters cytoskeletal dynamics and causes glomerular disease. J Am Soc Nephrol, 2008, 19:2150-58

Harvey SJ, Miner JH. Revisiting the glomerular charge barrier in the molecular era. Curr Opin Nephrol Hypertens, 2008, 17:393-98

Hyun I, Lindvall O, Hrlund-Richter LA, Cattaneo E, Cavazzana-Calvo M, Cossu G, de Luca M, Fox IJ, Gerstle C, Goldstein RA, Hermere G, High KA, Kim HO, Peng Lee H, Levy-Lahad E, Lo B, Marshak DR, McNab A, Munsie M, Nakauchi H, Rao M, Rooke HM, Valles CS, Srivastava A, Sugarman J, Taylor PL, Veiga A, Wong AL, Zoloth L, Daley GQ. New ISSCR guidelines underscore major principles for responsible translational stem cell research. Cell Stem Cell 2008 ; 3:607-9.

Jais, J.P., C. Haioun, T.J. Molina, D.S. Rickman, A. de Reynies, F. Berger, C. Gisselbrecht, J. Briere, F. Reyes, P. Gaulard, P. Feugier, E. Labouyrie, H. Tilly, C. Bastard, B. Coiffier, G. Salles, and K. Leroy, The expression of 16 genes related to the cell of origin and immune response predicts survival in elderly patients with diffuse large B-cell lymphoma treated with CHOP and rituximab. Leukemia, 2008. 22(10): p. 1917-24

Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E,Prost-Squarcioni C, Krakow D, Ge G, Grenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V. ADAMTSL2 mutations in geleophysic dysplasia reveal a role for ADAMTS-like proteins in the regulation of TGFb bioavailability. Nat Genet 2008, 49: 1119-1123.

Lorain, S.,Gross D.A, Goyenvalle A,Danos O, Davoust J,Garcia L. Transient immunomodulation allows repeated injections of AAV1 and correction of muscular dystrophy in multiple muscles. Mol Ther. (2008);16:541-7.

Matysiak-Budnik, T., I.C. Moura, M. Arcos-Fajardo, C. Lebreton, S. Menard, C. Candalh, K. Ben-Khalifa, C. Dugave, H. Tamouza, G. van Niel, Y. Bouhnik, D. Lamarque, S. Chaussade, G. Malamut, C. Cellier, N. Cerf-Bensussan, R.C. Monteiro, and M. Heyman. 2008. Secretory IgA mediates retrotranscytosis of intact gliadin peptides via the transferrin receptor in celiac disease. J Exp Med 205:143-154

Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, Edkins S, Futreal PA, Stratton MR, Turner G, Matthijs G, Gecz J, Munnich A, Colleaux L (2008) Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet. 82 :1150-7.

Pachlopnik Schmid J, Ho CH, Diana J, Pivert G, Lehuen A, Geissmann F, Fischer A, de Saint Basile G., A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH), Eur J Immunol. 2008, 38(11):3219-25.

Péron S, Metin A, Gardès P, Alyanakian M-A, Sheridan E, Kratz C.P, Fischer A, Durandy A Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination J Exp Med 2008 ;205(11): 2465-72

Thomas S, Thomas M, Wincker P, Babarit C, Xu et al. Human neural crest cells share a complex molecular signature with embryonic stem cells. Hum Mol Genet (2008), 17, 3411-25.

Wang GP, Garrigue A, Ciuffi A, Ronen K, Leipzig J, Berry C, Lagresle-Peyrou C, Benjelloun F, Hacein-Bey-Abina S, Fischer A, Cavazzana-Calvo M, Bushman FD. DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer. Nucleic Acids Res 2008 ; 36 : e49.

2007

Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L (2007) Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. 80: 988-93.

Auffray Cedric, Fogg Darin K., Garfa Meriem, Elain Gaelle, Join-Lambert Olivier, Kayal Samer, Sarnacki Sabine, Cumano Ana, Lauvau Gregoire, Geissmann Frederic. Patrolling blood monocytes that monitor blood vessels and tissues for damage and infection -Science 3 August 2007, Vol. 317. no. 5838, pp. 666 - 670, DOI: 10.1126/science.1142883

Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, et al. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007), 39, 454-6.

Benahmed, M., B. Meresse, B. Arnulf, U. Barbe, J.J. Mention, V. Verkarre, M. Allez, C. Cellier, O. Hermine, and N. Cerf-Bensussan. 2007. Inhibition of TGF-beta signaling by IL-15: a new role for IL-15 in the loss of immune homeostasis in celiac disease. Gastroenterology 132:994-1008.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007 39 :776-80

Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science 2007;317:617-9

Deichmann A, Hacein-Bey-Abina S, Schmidt M, Garrigue A, Brugman M, Hu J, Glimm H, Gyapay G, Prum B, Fraser CC, Fischer N, Schwarzwaelder K, Siegler ML, de Ridder D, Pike-Overzet K, Howe SJ, Thrasher AJ, Wagemaker G, Abel U, Staal F, Delabesse E, Villeval JL, Aronow B, Hue C, Prinz C, Wissler M, Klanke C, Weissenbach J, Alexander I, Fischer A, von Kalle C, Cavazzana-Calvo M. Vector integration is non-random, clustered and influences the in vivo fate of lymphopoiesis in SCID-X1 gene therapy. J Clin Invest 2007 ; 117 : 2225-32.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007), 39, 875-81.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. The novel ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007, 39:875-881.

Fougerousse, F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N, Gicquel E, Danos O, Richard I. Phenotypic Correction of alpha-Sarcoglycan Defi ciency by Intra-arterial Injection of a Muscle-specifi c Serotype 1 rAAV Vector. Mol Ther. (2007); 15:53-61.

Gomes-Pereira M, Foiry L, Nicole A, Huguet A, Junien C, Munnich A and Gourdon G. CTG trinucleotide repeat “big jumps”: large expansions, small mice. PloS Genetics, 2007 6;3(4):epub52 Gottenberg JE, Loiseau P, Azarian M, Chen C, Cagnard N, Hachulla E, Puechal X, Sibilia J, Charron D, Mariette X, Miceli-Richard C,CTLA-4 +49A/G and CT60 gene polymorphisms in primary Sjögren syndrome. Arthritis Res Ther. 2007;9(2):R24.

Latour S. NKT cells and X-linked lymphoproliferative syndrome (XLP). (2007). Current Opinion in Allergy and Clinical Immunology. 2007; 7(6) :510-4

Menager MM, Menasche G, Romao M, Knapnougel P, Ho CH, Garfa M, Raposo G, Feldmann J, Fischer A, de Saint Basile G. Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat Immunol (2007)8:257-67.

Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rötig A Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007, 117:765-772

Neven B, Valayannopoulos V, Quartier P, Blanche, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Allogeneic bone marrow transplantation in mevalonic aciduria . N Engl J Med 2007; 356 : 2700-3.

Patey-Mariaud de Serre N., Garfa M., Bessiéres B., Noël L.H., Knebelmann B. Collagen alpha5 and alpha2(IV) chain coexpression: Analysis of skin biopsies of Alport patients-Kidney Int. 2007 Jun 6; : 17554254 (P,S,E,B,D)

Peron S, Pan-Hammarstrom Q, Imai K, Du L, Taubenheim N, Sanal O, Marodi L, Bergelin-Besancon A, Benkerrou M, de Villartay JP, Fischer A, Revy P, Durandy A. A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med 2007 ;204(5): 1207-16

Raji B, Dansault A, Leemput J, de la Houssaye G, Vieira V, Kobetz A, Arbogast L, Masson C, Menasche M, Abitbol M., The RNA-binding protein Musashi-1 is produced in the developing and adult mouse eye. Mol Vis., 2007, 13:1412-27.

Sarzi E, Goffart S, Serre V, Chrétien D, Slama A, Munnich A, Spelbrink JN, Rötig A Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol. 2007 62:579-87

Six, E., Bonhomme, D., Monteiro, M ., Beldjord, K., Jurkowska, M., Cordier-Garcia, C., Garrigue, A., Dal Cortivo, L., Rocha, B ., Fischer, A., Cavazzana-Calvo, M., and André-Schmutz, I. A human postnatal lymphoid-restricted progenitor capable of circulating and seeding the thymus. J.Exp.Med. 204, 3085-3093 (2007)

Soulas-Sprauel, P., Le Guyader, G., Rivera-Munoz, P., Abramowski, V., Olivier-Martin, C., Goujet-Zalc, C., Charneau, P. & de Villartay, J. P. Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination. J Exp Med (2007) 204, 1717-27

Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: Potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol, 2007, 18:1566–1575.

2006

Baghdadi JE, Orlova M, Alter A, Ranque B, Chentoufi M, Lazrak F, Archane MI, Casanova JL, Benslimane A, Schurr E, Abel L. An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults. J Exp Med 2006;203:1679-84

Bartoli M, Roudaut C, Martin, S, Fougerousse F, Suel L, Poupiot J, Gicquel E, Noulet F, Danos O, Richard I. Safety and effi cacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. Mol Ther. (2006); 13, 250-259.

Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 2006;124:287-99.

Callebaut, I., Malivert, L., Fischer, A., Mornon, J. P., Revy, P. & de Villartay, J. P. Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1. J Biol Chem (2006) 281, 13857-60

Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Senechal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Heron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 2006;314:308-12

Didelot G, Molinari F, Tchenio P, Comas D, Milhiet E, Munnich A, Colleaux L, Preat T (2006) Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. Science. 313:851-3. Durandy A, Peron S, Taubenheim N, Fischer A. Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants. Hum Mutat 2006;27:1185-91.

Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israel A, Veron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 2006;203:1745-59

Gerber S, Bonneau D, Gilbert B, Munnich A, Dufier JL, Rozet JM, Kaplan J. USH1A: chronicle of a slow death. Am J Hum Genet (2006);78(2):357-9.

Lambolez, F., Arcangeli, M. L., Joret, A. M., Pasqualetto, V., Cordier, C., Di Santo, J. P., Rocha, B., and Ezine, S. The thymus exports long-lived fully committed T cell precursors that can colonize primary lymphoid organs. Nat. Immunol. 7 (1), 76-82 (2006)

Moschese V, Lintzman J, Callea F, Chini L, Devito R, Carsetti R, Di Cesare S, Geissman F, Brousse N, Rossi P, Durandy A. A novel form of non-X-linked hyperigm associated with growth and pubertal disturbances and with lymphoma development. J Pediatr 2006;148:404-6.

Plancoulaine S, Gessain A, Tortevoye P, Boland-Auge A, Vasilescu A, Matsuda F, Abel L. A major susceptibility locus for HTLV-1 infection in childhood maps to chromosome 6q27. Hum Mol Genet 2006;15:3306-12

Rieux-Laucat F, et al Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. 2006 May 4;354(18):1913-21.

Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G and S. Latour (2006). XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 444(7115):110-4

Vincent Q, Alcais A, Alter A, Schurr E, Abel L. Quantifying genomic imprinting in the presence of linkage. Biometrics 2006;62:1071-80

Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006, 17(10):2864-70.

2005

Alcais A, Fieschi C, Abel L, Casanova JL. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 2005;202:1617-21

Bloch-Queyrat C, Fondaneche MC, Chen R, Yin L, Relouzat F, Veillette A, Fischer A and S. Latour (2005). Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn. J Exp Med. 202(1):181-92

Caspersen C, Wang N, Yao J, Sosunov A, Chen X, Lustbader JW, Xu HW, Stern D, McKhann G, Yan SD. Mitochondrial Abeta: a potential focal point for neuronal metabolic dysfunction in Alzheimer's disease. FASEB J. 19:2040-1, 2005.

Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in renin-angiotensin system genes are associated with autosomal recessive renal tubular dysgenesis. Nature Genet, 2005, 37 : 964-8.

Huber C, Dias-Santagata D, Glaser A, O’Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Santos HD, Megarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, Burgtiv, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Identification of CUL7 mutations in 3 M syndrome. Nat Genet 2005, 37 : 1119-1124

Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L (2005) Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet.;76 : 334-9.

Pasquier B, Yin L, Fondaneche MC, Relouzat F, Bloch-Queyrat C, Lambert N, Fischer A, de Saint-Basile G and S. Latour (2005). Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med. 201(5):695-701.

Storck S, Delbos F, Stadler N, Thirion-Delalande C, Bernex F, Verthuy C, Ferrier P, Weill JC, Reynaud CA, Normal Immune System Development in Mice Lacking the Deltex-1 RING Finger Domain, Mol Cell Biol., 2005, 25(4):1437-45

Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 2005

Yang K, Puel A, Zhang S, Eidenschenk C, Ku CL, Casrouge A, Picard C, von Bernuth H, Senechal B, Plancoulaine S, Al-Hajjar S, Al-Ghonaium A, Marodi L, Davidson D, Speert D, Roifman C, Garty BZ, Ozinsky A, Barrat FJ, Coffman RL, Miller RL, Li X, Lebon P, Rodriguez-Gallego C, Chapel H, Geissmann F, Jouanguy E, Casanova JL. Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity 2005;23:465-78

You, S., Belghith, M., Cobbold, S., Alyanakian, M. A., Gouarin, C., Barriot, S., Garcia, C., Waldmann, H., Bach, J. F., Chatenoud, L. Autoimmune diabetes onset results from qualitative rather than quantitative age-dependent changes in pathogenic T-cells. Diabetes 54 (5), 1415-1422 (2005)

2004

Alcais A*, Mira MT*, Van Thuc N, Moraes MO, Di Flumeri C, Hong Thai V, Chi Phuong M, Thu Huong N, Ngoc Ba N, Xuan Khoa P, Sarno EN, Alter A, Montpetit A, Moraes ME, Moraes JR, Dore C, Gallant CJ, Lepage P, Verner A, Van De Vosse E, Hudson TJ, Schurr E*, Abel L*. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 2004;427:636-640

Goyenvalle A,Vulin A, Fougerousse F, Leturcq F, Kaplan J, Garcia L, Danos O. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science. (2004); 306, 1796-1799.

Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, Blanche S, Bartunkova J, Vilmer E, Fischer A, Le Deist F, Rieux-Laucat F.N Engl J. Autoimmune lymphoproliferative syndrome with somatic Fas mutations. Med. 2004 Sep 30;351(14):1409-18.

Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet (2004); 75(4):639-46

Savouret C, Garcia-Cordier C, Megret J, te Riele H, Junien C and Gourdon G. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Molecular and Cellular Biology, 2004, 24: 629-637.

Vona G, Estepa L, Béroud C, Damotte D, Capron F, Mineur A, Franco D, Lacour B, Pol S, Bréchot C, Paterlini-Bréchot P. Impact of cytomorphological and molecular characterization of circulating tumor cells in patients with primary liver cancer. Hepatology, 39:792-797, 2004.

2003

Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, et al. Polyalanine expansion and frame shift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (Ondine’s curse). Nat Genet (2003), 33, 459-461.

Béroud C, Karliova M, Bonnefont JP, Benachi A, Munnich A, Dumez Y, Lacour B, Paterlini-Bréchot P. Prenatal diagnosis of Spinal Muscular Atrophy (SMA) by genetic analysis of circulating fetal cells. The Lancet, 361:1013-4, 2003.

Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachee-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocyticlymphohistiocytosis (FHL3). Cell (2003),115:461-73.

Mention, J.J., M. Ben Ahmed, B. Begue, U. Barbe, V. Verkarre, V. Asnafi, J.F. Colombel, P.H. Cugnenc, F.M. Ruemmele, E. McIntyre, N. Brousse, C. Cellier, and N. Cerf-Bensussan. 2003. Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease. Gastroenterology 125:730-745

Paterlini-Bréchot P, Saigo K, Murakami Y, Chami M, Gozuacik D, Mugnier C, Lagorce D, Bréchot C. Hepatitis B virus-related insertional mutagenesis occurs frequently in human liver cancers and recurrently targets human telomerase gene. Oncogene, 22:3911-6, 2003.

Savouret C, Brisson E, Essers J, Kanaar R, Pastink A, te Riele H, Junien C and Gourdon G. CTG repeat instability and size variation timing in repair-deficient mice. The Embo Journal, 2003, 22 :2264-2273.

Tieu K, Perier C, Caspersen C, Teismann P, Wu DC, Yan SD, Naini A, Vila M, Jackson-Lewis V, Ramasamy R, Przedborski S. D-beta-hydroxybutyrate rescues mitochondrial respiration and mitigates features of Parkinson disease. J Clin Invest. 112:892-901, 2003.

2002

Ducroq D, Rozet JM, Gerber S, Perrault I, Barbet D, Hanein S, Hakiki S, Dufier JL, Munnich A, Hamel C, Kaplan J. The ABCA4 gene in autosomal recessive cone-rod dystrophies. Am J Hum Genet (2002); 71(6):1480-2.

Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet, 2002, 32: 300-305.

2001

Kalatzis V, Cherqui S, Antignac C, Gasnier B. Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter. EMBO J, 2001, 20: 5940-5949.

Seznec H, Agbulut O, Savouret C, Sergeant N, Ghestem A, Tabti N, Willer JC, Ourth L, Duros C, Brisson E, Fouquet C, Buttler-Browne G, Delacourte A, Junien C and Gourdon G. (2001) Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Human Molecular Genetics, 2001,10 :2717-2726.

Weller , S., Faili, A., Garcia, C., Braun, M. C., Le Deist, F., De Saint Basile, G., Hermine, O., Fischer, A., Reynaud, C. A., and Weill, J. C. CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. PNAS 98 (3), 1166-1170 (2001)

2000

Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler M-c, Niaudet P, Antignac C. The NPHS2 gene encoding a novel glomerular protein, podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nature Genet, 2000, 24: 349-354.

Cellier, C., E. Delabesse, C. Helmer, N. Patey, C. Matuchansky, B. Jabri, E. Macintyre, N. Cerf-Bensussan, and N. Brousse. 2000. Refractory sprue, coeliac disease, and enteropathy-associated T-cell lymphoma. French Coeliac Disease Study Group. Lancet 356:203-208

Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet (2000),25:173-6.

1998

Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, Van't Hoff W, Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genet, 1998, 18: 319-324.

1997

Gourdon G, Radvanyi F, Lia AS, Duros C, Blanche M, Junien C and Hofmann-Radvanyi H. Moderate instability of a 55 CTG repeat in transgenic mice carrying a 45 kb genomic region from an affected DM patient. Nature Genetics, 1997, 15:190-192.

Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, Jabado N, Seger R, Griscelli C, Fischer A, de Saint Basile G. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet (1997),16:289-92.

1996

Rozet JM, Perrault I, Calvas P, Gerber S, Camuzat A, Dollfus H, Châtelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, Frézal J, Dufier JL, Pittler S, Munnich A, Kaplan J. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996);14(4):461-4.

Stephan V, Wahn V, Le Deist F, Dirksen U, Broker B, Muller-Fleckenstein I, Horneff G, Schroten H, Fischer A, de Saint Basile G. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med (1996),335:1563-7.

1995

Rieux-Laucat F, et al Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 1995 Jun 2;268(5215):1347-9².