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Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice.

Sepulveda, F.E. Garrigue, A., Maschalidi, S., Garfa- Traore, M., Menasche, G., Fischer, A., and de Saint Basile, G.

Blood 2016 127:2113-2121.


Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

Maschalidi S. Sepulveda F.E. Garrigue A. Fischer A. and de Saint Basile G.

Blood 2016 128:60-71.


Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K- dependent recruitment to the granular Slp3/Rab27b complex.

Isabelle Munoz. Luca Danelli, Julien Claver, Nicolas Goudin, Mathieu Kurowska, Iris Karina Madera-Salcedo, Jian-Dong Huang, Alain Fischer, Claudia Gonzalez- Espinosa, Geneviève de Saint Basile, Ulrich Blank and Gaël Ménasché.

Journal of cell Biology 2016 215(2):203-216.


DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Girard M. Bizet AA, Lachaux A, Gonzales E, Filhol E, Collardeau-Frachon S, Jeanpierre C, Henry C, Fabre M, Viremouneix L, Galmiche L, Debray D, Bole-Feysot C, Nitschke P, Pariente D, Guettier C, Lyonnet S, Heidet L, Bertholet A, Jacquemin E, Henrion-Caude A, Saunier S.

Hum Mutat. 2016 doi: 10.1002/ humu.23031.


Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Grampa V. Delous M, Zaidan M, Odye G, Thomas S, Elkhartoufi N, Filhol E, Niel O, Silbermann F, Lebreton C, Collardeau-Frachon S, Rouvet I, Alessandri JL, Devisme L, Dieux-Coeslier A, Cordier MP, Capri Y, Khung-Savatovsky S, Sigaudy S, Salomon R, Antignac C, Gubler MC, Benmerah A, Terzi F, Attié- Bitach T, Jeanpierre C, Saunier S.

PLoS Genet. 2016 12(3):e1005894.


TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.

Lambacher NJ. Bruel AL, van Dam TJ, SzymaÅ„ska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE.

Nat Cell Biol. 2016 18(1):122-31.


IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype- Phenotype Correlation in Pustular Diseases.

Tauber M. Bal E, Pei XY, Madrange M, Khelil A, Sahel H, Zenati A, Makrelouf M, Boubridaa K, Chiali A, Smahi N, Otsmane F, Bouajar B, Marrakchi S, Turki H, Bourrat E, Viguier M, Hamel Y, Bachelez H, Smahi A.

J Invest Dermatol. 2016 136(9):1811-9.


A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.

Zhang S. Pondarre C, Pennarun G, Labussiere- Wallet H, Vera G, France B, Chansel M, Rouvet I, Revy P, Lopez B, Soulier J, Bertrand P, Callebaut I, de Villartay JP.

J Exp Med 2016 213(6):1011- 28.


TALEN-Induced Translocations in Human Cells.

Piganeau M. Renouf B, Ghezraoui H, Brunet E.

Methods Mol Biol 2016 1338:99-117.


RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair.

Lescale C. Abramowski V, Bedora-Faure M, Murigneux V, Vera G, Roth DB, Revy P, de Villartay JP, Deriano L.

Nat Commun 2016 7:10529.


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