Callebaut I - Search Results

1

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C. Hauck F, et al. Among authors: callebaut i. J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11. doi: 10.1016/j.jaci.2012.07.029. Epub 2012 Sep 15. J Allergy Clin Immunol. 2012. PMID: 22985903

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

Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family.

Callebaut I, Moshous D, Mornon JP, de Villartay JP. Callebaut I, et al. Nucleic Acids Res. 2002 Aug 15;30(16):3592-601. doi: 10.1093/nar/gkf470. Nucleic Acids Res. 2002. PMID: 12177301 Free PMC article.

5

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.

6

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.

7

The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination.

Poinsignon C, Moshous D, Callebaut I, de Chasseval R, Villey I, de Villartay JP. Poinsignon C, et al. Among authors: callebaut i. J Exp Med. 2004 Feb 2;199(3):315-21. doi: 10.1084/jem.20031142. Epub 2004 Jan 26. J Exp Med. 2004. PMID: 14744996 Free PMC article.

8

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.

9

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

10

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.

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