Feldmann J - Search Results

1

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.

Feldmann J, Le Deist F, Ouachée-Chardin M, Certain S, Alexander S, Quartier P, Haddad E, Wulffraat N, Casanova JL, Blanche S, Fischer A, de Saint Basile G. Feldmann J, et al. Br J Haematol. 2002 Jun;117(4):965-72. doi: 10.1046/j.1365-2141.2002.03534.x. Br J Haematol. 2002. PMID: 12060139 Free article.

2

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.

3

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. 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.

4

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.

5

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Ménasché G, et al. Among authors: feldmann j. Nat Genet. 2000 Jun;25(2):173-6. doi: 10.1038/76024. Nat Genet. 2000. PMID: 10835631

6

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G. Feldmann J, et al. Am J Hum Genet. 2002 Jul;71(1):198-203. doi: 10.1086/341357. Epub 2002 May 24. Am J Hum Genet. 2002. PMID: 12032915 Free PMC article.

7

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

Menasche G, Feldmann J, Houdusse A, Desaymard C, Fischer A, Goud B, de Saint Basile G. Menasche G, et al. Among authors: feldmann j. Blood. 2003 Apr 1;101(7):2736-42. doi: 10.1182/blood-2002-09-2789. Epub 2002 Nov 21. Blood. 2003. PMID: 12446441 Free article.

8

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.

Ménasché G, Feldmann J, Fischer A, de Saint Basile G. Ménasché G, et al. Among authors: feldmann j. Immunol Rev. 2005 Feb;203:165-79. doi: 10.1111/j.0105-2896.2005.00224.x. Immunol Rev. 2005. PMID: 15661029 Review.

9

Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4.

Ménager MM, Ménasché G, Romao M, Knapnougel P, Ho CH, Garfa M, Raposo G, Feldmann J, Fischer A, de Saint Basile G. Ménager MM, et al. Among authors: feldmann j. Nat Immunol. 2007 Mar;8(3):257-67. doi: 10.1038/ni1431. Epub 2007 Jan 21. Nat Immunol. 2007. PMID: 17237785

10

Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation.

Barrat FJ, Le Deist F, Benkerrou M, Bousso P, Feldmann J, Fischer A, de Saint Basile G. Barrat FJ, et al. Among authors: feldmann j. Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8645-50. doi: 10.1073/pnas.96.15.8645. Proc Natl Acad Sci U S A. 1999. PMID: 10411929 Free PMC article.

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