157 related articles for article (PubMed ID: 25776844)
1. Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals.
House IG; Thia K; Brennan AJ; Tothill R; Dobrovic A; Yeh WZ; Saffery R; Chatterton Z; Trapani JA; Voskoboinik I
Immunol Cell Biol; 2015 Jul; 93(6):575-80. PubMed ID: 25776844
[TBL] [Abstract][Full Text] [Related]
2. Functional impact of A91V mutation of the PRF1 perforin gene.
Martínez-Pomar N; Lanio N; Romo N; Lopez-Botet M; Matamoros N
Hum Immunol; 2013 Jan; 74(1):14-7. PubMed ID: 23073290
[TBL] [Abstract][Full Text] [Related]
3. Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function.
Voskoboinik I; Sutton VR; Ciccone A; House CM; Chia J; Darcy PK; Yagita H; Trapani JA
Blood; 2007 Aug; 110(4):1184-90. PubMed ID: 17475905
[TBL] [Abstract][Full Text] [Related]
4. 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; 106(3):932-7. PubMed ID: 15741215
[TBL] [Abstract][Full Text] [Related]
5. Human perforin mutations and susceptibility to multiple primary cancers.
Trapani JA; Thia KY; Andrews M; Davis ID; Gedye C; Parente P; Svobodova S; Chia J; Browne K; Campbell IG; Phillips WA; Voskoboinik I; Cebon JS
Oncoimmunology; 2013 Apr; 2(4):e24185. PubMed ID: 23734337
[TBL] [Abstract][Full Text] [Related]
6. MicroRNA-150 regulates the cytotoxicity of natural killers by targeting perforin-1.
Kim N; Kim M; Yun S; Doh J; Greenberg PD; Kim TD; Choi I
J Allergy Clin Immunol; 2014 Jul; 134(1):195-203. PubMed ID: 24698324
[TBL] [Abstract][Full Text] [Related]
7. Heat shock suppresses human NK cell cytotoxicity via regulation of perforin.
Harada H; Murakami T; Tea SS; Takeuchi A; Koga T; Okada S; Suico MA; Shuto T; Kai H
Int J Hyperthermia; 2007 Dec; 23(8):657-65. PubMed ID: 18097852
[TBL] [Abstract][Full Text] [Related]
8. A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
Voskoboinik I; Thia MC; Trapani JA
Blood; 2005 Jun; 105(12):4700-6. PubMed ID: 15755897
[TBL] [Abstract][Full Text] [Related]
9. Perforinopathy: a spectrum of human immune disease caused by defective perforin delivery or function.
Voskoboinik I; Trapani JA
Front Immunol; 2013 Dec; 4():441. PubMed ID: 24376445
[TBL] [Abstract][Full Text] [Related]
10. An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
Manso R; Rodríguez-Pinilla SM; Lombardia L; Ruiz de Garibay G; Del Mar López M; Requena L; Sánchez L; Sánchez-Beato M; Piris MÁ
PLoS One; 2014; 9(3):e91521. PubMed ID: 24632576
[TBL] [Abstract][Full Text] [Related]
11. Inhibition of natural killer cell cytotoxicity by interleukin-6: implications for the pathogenesis of macrophage activation syndrome.
Cifaldi L; Prencipe G; Caiello I; Bracaglia C; Locatelli F; De Benedetti F; Strippoli R
Arthritis Rheumatol; 2015 Nov; 67(11):3037-46. PubMed ID: 26251193
[TBL] [Abstract][Full Text] [Related]
12. Recovery of natural killer cell cytotoxicity in a p.A91V perforin homozygous patient following severe haemophagocytic lymphohistiocytosis.
Jang HS; Flinsenberg TWH; Lacaze P; Thia KYT; Noori T; Fernando SL; Kerridge I; Riaz M; McNeil JJ; Blombery PA; Trapani JA; Voskoboinik I
Br J Haematol; 2020 Aug; 190(3):458-461. PubMed ID: 32342501
[No Abstract] [Full Text] [Related]
13. The transcriptional control of the perforin locus.
Pipkin ME; Rao A; Lichtenheld MG
Immunol Rev; 2010 May; 235(1):55-72. PubMed ID: 20536555
[TBL] [Abstract][Full Text] [Related]
14. Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.
Mehta PA; Davies SM; Kumar A; Devidas M; Lee S; Zamzow T; Elliott J; Villanueva J; Pullen J; Zewge Y; Filipovich A;
Leukemia; 2006 Sep; 20(9):1539-41. PubMed ID: 16791263
[TBL] [Abstract][Full Text] [Related]
15. Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma.
Cannella S; Santoro A; Bruno G; Pillon M; Mussolin L; Mangili G; Rosolen A; Aricò M
Cancer; 2007 Jun; 109(12):2566-71. PubMed ID: 17477373
[TBL] [Abstract][Full Text] [Related]
16. Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
Clementi R; Chiocchetti A; Cappellano G; Cerutti E; Ferretti M; Orilieri E; Dianzani I; Ferrarini M; Bregni M; Danesino C; Bozzi V; Putti MC; Cerutti F; Cometa A; Locatelli F; Maccario R; Ramenghi U; Dianzani U
Blood; 2006 Nov; 108(9):3079-84. PubMed ID: 16720836
[TBL] [Abstract][Full Text] [Related]
17. A91V perforin variation in healthy subjects and FHLH patients.
Busiello R; Fimiani G; Miano MG; Aricò M; Santoro A; Ursini MV; Pignata C
Int J Immunogenet; 2006 Apr; 33(2):123-5. PubMed ID: 16611257
[TBL] [Abstract][Full Text] [Related]
18. Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry.
Voskoboinik I; Lacaze P; Jang HS; Flinsenberg T; Fernando SL; Kerridge I; Riaz M; Sebra R; Thia K; Noori T; Schadt EE; McNeil JJ; Trapani JA
Blood; 2020 Feb; 135(8):582-584. PubMed ID: 31932842
[No Abstract] [Full Text] [Related]
19. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
Mancebo E; Allende LM; Guzmán M; Paz-Artal E; Gil J; Urrea-Moreno R; Fernández-Cruz E; Gayà A; Calvo J; Arbós A; Durán MA; Canet R; Balanzat J; Udina MA; Vercher FJ
Haematologica; 2006 Sep; 91(9):1257-60. PubMed ID: 16956828
[TBL] [Abstract][Full Text] [Related]
20. Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.
Carvelli J; Piperoglou C; Farnarier C; Vely F; Mazodier K; Audonnet S; Nitschke P; Bole-Feysot C; Boucekine M; Cambon A; Hamidou M; Harle JR; de Saint Basile G; Kaplanski G
Blood; 2020 Jul; 136(5):542-552. PubMed ID: 32356861
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
