Callebaut I - Search Results

1

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: callebaut i. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.

2

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

Corneo B, Moshous D, Callebaut I, de Chasseval R, Fischer A, de Villartay JP. Corneo B, et al. Among authors: callebaut i. J Biol Chem. 2000 Apr 28;275(17):12672-5. doi: 10.1074/jbc.275.17.12672. J Biol Chem. 2000. PMID: 10777560 Free article.

3

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP. Moshous D, et al. Among authors: callebaut i. Cell. 2001 Apr 20;105(2):177-86. doi: 10.1016/s0092-8674(01)00309-9. Cell. 2001. PMID: 11336668 Free article.

4

The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system.

Moshous D, Callebaut I, de Chasseval R, Poinsignon C, Villey I, Fischer A, de Villartay JP. Moshous D, et al. Among authors: callebaut i. Ann N Y Acad Sci. 2003 Apr;987:150-7. doi: 10.1111/j.1749-6632.2003.tb06043.x. Ann N Y Acad Sci. 2003. PMID: 12727634 Review.

5

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G. Neven B, et al. Among authors: callebaut i. Blood. 2004 Apr 1;103(7):2809-15. doi: 10.1182/blood-2003-07-2531. Epub 2003 Nov 20. Blood. 2004. PMID: 14630794 Free article.

6

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.

Feldmann J, Ménasché G, Callebaut I, Minard-Colin V, Bader-Meunier B, Le Clainche L, Fischer A, Le Deist F, Tardieu M, de Saint Basile G. Feldmann J, et al. Among authors: callebaut i. Blood. 2005 Apr 1;105(7):2658-63. doi: 10.1182/blood-2004-09-3590. Epub 2004 Dec 14. Blood. 2005. PMID: 15598808 Free article.

7

Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.

Callebaut I, Malivert L, Fischer A, Mornon JP, Revy P, de Villartay JP. Callebaut I, et al. J Biol Chem. 2006 May 19;281(20):13857-60. doi: 10.1074/jbc.C500473200. Epub 2006 Mar 29. J Biol Chem. 2006. PMID: 16571728 Free article.

8

A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions.

de Villartay JP, Shimazaki N, Charbonnier JB, Fischer A, Mornon JP, Lieber MR, Callebaut I. de Villartay JP, et al. Among authors: callebaut i. DNA Repair (Amst). 2009 Feb 1;8(2):202-8. doi: 10.1016/j.dnarep.2008.10.010. Epub 2008 Dec 4. DNA Repair (Amst). 2009. PMID: 19022407

9

The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo.

Malivert L, Callebaut I, Rivera-Munoz P, Fischer A, Mornon JP, Revy P, de Villartay JP. Malivert L, et al. Among authors: callebaut i. Mol Cell Biol. 2009 Mar;29(5):1116-22. doi: 10.1128/MCB.01521-08. Epub 2008 Dec 22. Mol Cell Biol. 2009. PMID: 19103754 Free PMC article.

10

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.

Burgess A, Mornon JP, de Saint-Basile G, Callebaut I. Burgess A, et al. Among authors: callebaut i. Bioinformatics. 2009 May 15;25(10):1219-22. doi: 10.1093/bioinformatics/btp151. Epub 2009 Mar 16. Bioinformatics. 2009. PMID: 19289442

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