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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. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.
Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).
Dufourcq-Lagelouse R, Pastural E, Barrat FJ, Feldmann J, Le Deist F, Fischer A, De Saint Basile G. Dufourcq-Lagelouse R, et al. Among authors: feldmann j. Int J Mol Med. 1999 Aug;4(2):127-33. doi: 10.3892/ijmm.4.2.127. Int J Mol Med. 1999. PMID: 10402477 Review.
[Munc13-4 is essential for cytolytic granule fusion].
Feldmann J, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Med Sci (Paris). 2004 Feb;20(2):144-6. doi: 10.1051/medsci/2004202144. Med Sci (Paris). 2004. PMID: 14997430 Free article. French. No abstract available.
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: feldmann j. 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.
489 results