281 related articles for article (PubMed ID: 11179007)
21. Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.
Yamamoto K; Ishii E; Sako M; Ohga S; Furuno K; Suzuki N; Ueda I; Imayoshi M; Yamamoto S; Morimoto A; Takada H; Hara T; Imashuku S; Sasazuki T; Yasukawa M
J Med Genet; 2004 Oct; 41(10):763-7. PubMed ID: 15466010
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
Nagai K; Yamamoto K; Fujiwara H; An J; Ochi T; Suemori K; Yasumi T; Tauchi H; Koh K; Sato M; Morimoto A; Heike T; Ishii E; Yasukawa M
PLoS One; 2010 Nov; 5(11):e14173. PubMed ID: 21152410
[TBL] [Abstract][Full Text] [Related]
24. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.
Clementi R; zur Stadt U; Savoldi G; Varoitto S; Conter V; De Fusco C; Notarangelo LD; Schneider M; Klersy C; Janka G; Danesino C; Aricò M
J Med Genet; 2001 Sep; 38(9):643-6. PubMed ID: 11565555
[No Abstract] [Full Text] [Related]
25. Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.
McCormick J; Flower DR; Strobel S; Wallace DL; Beverley PC; Tchilian EZ
Am J Med Genet A; 2003 Mar; 117A(3):255-60. PubMed ID: 12599189
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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; 99(1):61-6. PubMed ID: 11756153
[TBL] [Abstract][Full Text] [Related]
28. Clinical and genetic studies of familial hemophagocytic lymphohistiocytosis in Oman: need for early treatment.
Al-Lamki Z; Wali YA; Pathare A; Ericson KG; Henter JI
Pediatr Hematol Oncol; 2003 Dec; 20(8):603-9. PubMed ID: 14578030
[TBL] [Abstract][Full Text] [Related]
29. Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis.
Del Giudice E; Savoldi G; Notarangelo LD; Di Benedetto L; Manganelli F; Bruzzese E; Romano A; Santoro L
Acta Paediatr; 2003; 92(3):398-401. PubMed ID: 12725560
[TBL] [Abstract][Full Text] [Related]
30. [Familial haemophagocytic lymphohistiocytosis caused by perforin deficit can be successfully treated by haematopoietic stem cell transplantation--the first diagnosed case in the Czech Republic].
Spísek R; Mejstríková E; Formánková R; Zizková H; Vávra V; Hrusák O; Sedivá A; Sedlácek P; Starý J
Cas Lek Cesk; 2006; 145(1):50-4. PubMed ID: 16468242
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis.
Karandikar NJ; Kroft SH; Yegappan S; Rogers BB; Aquino VM; Lee KM; Kumar V; Guenaga FJ; Jaffe ES; Douek DC; McKenna RW
Blood; 2004 Oct; 104(7):2007-9. PubMed ID: 15205266
[TBL] [Abstract][Full Text] [Related]
33. Prenatal diagnosis of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHLH).
zur Stadt U; Pruggmayer M; Jung H; Henter JI; Schneider M; Kabisch H; Janka G
Prenat Diagn; 2002 Jan; 22(1):80-1. PubMed ID: 11810660
[No Abstract] [Full Text] [Related]
34. Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.
Ueda I; Morimoto A; Inaba T; Yagi T; Hibi S; Sugimoto T; Sako M; Yanai F; Fukushima T; Nakayama M; Ishii E; Imashuku S
Br J Haematol; 2003 May; 121(3):503-10. PubMed ID: 12716377
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8.
Grossman WJ; Radhi M; Schauer D; Gerday E; Grose C; Goldman FD
Blood; 2005 Aug; 106(4):1203-6. PubMed ID: 15840696
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
Okur H; Balta G; Akarsu N; Oner A; Patiroglu T; Bay A; Sayli T; Unal S; Gurgey A
Leuk Res; 2008 Jun; 32(6):972-5. PubMed ID: 18190960
[TBL] [Abstract][Full Text] [Related]
39. No mutations of SAP/SH2D1A/DSHP and perforin genes in patients with Epstein-Barr virus-associated hemophagocytic syndrome in Japan.
Ma X; Okamura A; Yosioka M; Ishiguro N; Kikuta H; Kobayashi K
J Med Virol; 2001 Oct; 65(2):358-61. PubMed ID: 11536244
[TBL] [Abstract][Full Text] [Related]
40. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.
Bryceson YT; Rudd E; Zheng C; Edner J; Ma D; Wood SM; Bechensteen AG; Boelens JJ; Celkan T; Farah RA; Hultenby K; Winiarski J; Roche PA; Nordenskjöld M; Henter JI; Long EO; Ljunggren HG
Blood; 2007 Sep; 110(6):1906-15. PubMed ID: 17525286
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]