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Items: 1 to 20 of 24

1.

Perforin-mediated target-cell death and immune homeostasis.

Voskoboinik I, Smyth MJ, Trapani JA.

Nat Rev Immunol. 2006 Dec;6(12):940-52. Review.

PMID:
17124515
2.

Current concepts in the pathophysiology and treatment of aplastic anemia.

Young NS, Calado RT, Scheinberg P.

Blood. 2006 Oct 15;108(8):2509-19. Epub 2006 Jun 15. Review.

3.

T-bet, a Th1 transcription factor, is up-regulated in T cells from patients with aplastic anemia.

Solomou EE, Keyvanfar K, Young NS.

Blood. 2006 May 15;107(10):3983-91. Epub 2006 Jan 24.

4.

SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.

Packer BR, Yeager M, Burdett L, Welch R, Beerman M, Qi L, Sicotte H, Staats B, Acharya M, Crenshaw A, Eckert A, Puri V, Gerhard DS, Chanock SJ.

Nucleic Acids Res. 2006 Jan 1;34(Database issue):D617-21.

5.

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

Risma KA, Frayer RW, Filipovich AH, Sumegi J.

J Clin Invest. 2006 Jan;116(1):182-92. Epub 2005 Dec 22.

6.

Familial and acquired hemophagocytic lymphohistiocytosis.

Janka G, zur Stadt U.

Hematology Am Soc Hematol Educ Program. 2005:82-8.

PMID:
16304363
7.

The granule pathway of programmed cell death.

Ashton-Rickardt PG.

Crit Rev Immunol. 2005;25(3):161-82. Review.

PMID:
16048434
8.

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS.

N Engl J Med. 2005 Apr 7;352(14):1413-24.

10.

Perforin and lymphohistiocytic proliferative disorders.

Katano H, Cohen JI.

Br J Haematol. 2005 Mar;128(6):739-50. Review.

PMID:
15755277
11.

A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin.

Trambas C, Gallo F, Pende D, Marcenaro S, Moretta L, De Fusco C, Santoro A, Notarangelo L, Arico M, Griffiths GM.

Blood. 2005 Aug 1;106(3):932-7. Epub 2005 Mar 1.

12.

Recent developments in the transcriptional regulation of cytolytic effector cells.

Glimcher LH, Townsend MJ, Sullivan BM, Lord GM.

Nat Rev Immunol. 2004 Nov;4(11):900-11. Review.

PMID:
15516969
13.

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype.

Zur Stadt U, Beutel K, Weber B, Kabisch H, Schneppenheim R, Janka G.

Blood. 2004 Sep 15;104(6):1909; author reply 1910. No abstract available.

14.

Pathogenesis of hemophagocytic syndrome (HPS).

Larroche C, Mouthon L.

Autoimmun Rev. 2004 Feb;3(2):69-75. Review.

PMID:
15003190
15.

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.

Molleran Lee S, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, Filipovich AH.

J Med Genet. 2004 Feb;41(2):137-44. No abstract available.

16.

Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.

Clementi R, Emmi L, Maccario R, Liotta F, Moretta L, Danesino C, Aricó M.

Blood. 2002 Sep 15;100(6):2266-7. No abstract available.

17.

A human genome diversity cell line panel.

Cann HM, de Toma C, Cazes L, Legrand MF, Morel V, Piouffre L, Bodmer J, Bodmer WF, Bonne-Tamir B, Cambon-Thomsen A, Chen Z, Chu J, Carcassi C, Contu L, Du R, Excoffier L, Ferrara GB, Friedlaender JS, Groot H, Gurwitz D, Jenkins T, Herrera RJ, Huang X, Kidd J, Kidd KK, Langaney A, Lin AA, Mehdi SQ, Parham P, Piazza A, Pistillo MP, Qian Y, Shu Q, Xu J, Zhu S, Weber JL, Greely HT, Feldman MW, Thomas G, Dausset J, Cavalli-Sforza LL.

Science. 2002 Apr 12;296(5566):261-2. No abstract available.

PMID:
11954565
18.

Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members.

Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH.

Blood. 2002 Jan 1;99(1):61-6.

19.

Hemophagocytic syndromes and infection.

Fisman DN.

Emerg Infect Dis. 2000 Nov-Dec;6(6):601-8. Review.

20.

Perforin: more than just an effector molecule.

Stepp SE, Mathew PA, Bennett M, de Saint Basile G, Kumar V.

Immunol Today. 2000 Jun;21(6):254-6. Review. No abstract available.

PMID:
10825735
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