180 related articles for article (PubMed ID: 23073290)
1. 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]
2. Perforin gene analaysis in an Iranian family with familial hemophagocytic lymphohistiocytosis.
Galehdari H; Mohammadi E; Andashti B; Naderi A; Molavi MA
Iran J Immunol; 2007 Jun; 4(2):122-6. PubMed ID: 17652853
[TBL] [Abstract][Full Text] [Related]
3. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
Rudd E; Bryceson YT; Zheng C; Edner J; Wood SM; Ramme K; Gavhed S; Gürgey A; Hellebostad M; Bechensteen AG; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI
J Med Genet; 2008 Mar; 45(3):134-41. PubMed ID: 17993578
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
Zhang K; Johnson JA; Biroschak J; Villanueva J; Lee SM; Bleesing JJ; Risma KA; Wenstrup RJ; Filipovich AH
Int J Immunogenet; 2007 Aug; 34(4):231-3. PubMed ID: 17627755
[No Abstract] [Full Text] [Related]
7. 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]
8. Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).
Ueda I; Ishii E; Morimoto A; Ohga S; Sako M; Imashuku S
Pediatr Blood Cancer; 2006 Apr; 46(4):482-8. PubMed ID: 16365863
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
Lu G; Xie ZD; Shen KL; Ye LJ; Wu RH; Liu CY; Jin YK; Yang S
Chin Med J (Engl); 2009 Dec; 122(23):2851-5. PubMed ID: 20092789
[TBL] [Abstract][Full Text] [Related]
10. Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations.
Wada T; Sakakibara Y; Nishimura R; Toma T; Ueno Y; Horita S; Tanaka T; Nishi M; Kato K; Yasumi T; Ohara O; Yachie A
Hum Immunol; 2013 Dec; 74(12):1579-85. PubMed ID: 24051121
[TBL] [Abstract][Full Text] [Related]
11. Analyses of the PRF1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in Colombian unrelated families associated with late onset disease.
Sánchez IP; Leal-Esteban LC; Álvarez-Álvarez JA; Pérez-Romero CA; Orrego JC; Serna ML; Coll Y; Caicedo Y; Pardo-Díaz E; Zimmer J; Bleesing JJ; Franco JL; Trujillo-Vargas CM
J Clin Immunol; 2012 Aug; 32(4):670-80. PubMed ID: 22437823
[TBL] [Abstract][Full Text] [Related]
12. Unusual clinical presentations of familial hemophagocytic lymphohistiocytosis type-2.
Mhatre S; Madkaikar M; Jijina F; Ghosh K
J Pediatr Hematol Oncol; 2014 Nov; 36(8):e524-7. PubMed ID: 24390453
[TBL] [Abstract][Full Text] [Related]
13. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.
Ueda I; Kurokawa Y; Koike K; Ito S; Sakata A; Matsumora T; Fukushima T; Morimoto A; Ishii E; Imashuku S
Am J Hematol; 2007 Jun; 82(6):427-32. PubMed ID: 17266056
[TBL] [Abstract][Full Text] [Related]
14. [An analysis of etiological and genetic factors of a patient with familial hemophagocytic lymphohistiocytosis].
Liu HX; Tong CR; Wang H; Zhu J; Wang F; Cai P; Teng W; Yang JF; Zhang YL; Lu DP
Zhonghua Nei Ke Za Zhi; 2011 Feb; 50(2):132-5. PubMed ID: 21418834
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A; zur Stadt U; Ueda I; Risma K; Janka G; Ishii E; Beutel K; Sumegi J; Cannella S; Pende D; Mian A; Henter JI; Griffiths G; Santoro A; Filipovich A; Aricò M;
J Med Genet; 2008 Jan; 45(1):15-21. PubMed ID: 17873118
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Zur Stadt U; Beutel K; Kolberg S; Schneppenheim R; Kabisch H; Janka G; Hennies HC
Hum Mutat; 2006 Jan; 27(1):62-8. PubMed ID: 16278825
[TBL] [Abstract][Full Text] [Related]
18. A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis.
Romero CA; Sánchez IP; Gutierrez-Hincapié S; Álvarez-Álvarez JA; Pereañez JA; Ochoa R; Muskus-López CE; Eraso RG; Echeverry C; Arango C; Restrepo JL; Trujillo-Vargas CM
J Clin Immunol; 2015 Jul; 35(5):501-11. PubMed ID: 25975970
[TBL] [Abstract][Full Text] [Related]
19. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.
Ishii E; Ueda I; Shirakawa R; Yamamoto K; Horiuchi H; Ohga S; Furuno K; Morimoto A; Imayoshi M; Ogata Y; Zaitsu M; Sako M; Koike K; Sakata A; Takada H; Hara T; Imashuku S; Sasazuki T; Yasukawa M
Blood; 2005 May; 105(9):3442-8. PubMed ID: 15632205
[TBL] [Abstract][Full Text] [Related]
20. Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.
Nagafuji K; Nonami A; Kumano T; Kikushige Y; Yoshimoto G; Takenaka K; Shimoda K; Ohga S; Yasukawa M; Horiuchi H; Ishii E; Harada M
Haematologica; 2007 Jul; 92(7):978-81. PubMed ID: 17606450
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
